Upload
others
View
6
Download
0
Embed Size (px)
Citation preview
NħEƈIumlAEligƸƢicircotildeƧƌDljǮ
i )
a L
4 5
1 MRI
4SSPE 5
4PML 5
-
4PML 5
ii )
a b L
6
6 )
FMC
a )
FMC
a L 2222222222222222 i
a b L 22222222222222 ii
a ) 2222222222222222222222 ii
3 22222222222222222222222222222222222222 Yacute 1
4 a a R 222222222222222222222 Yacute 4
a 222222222222222222222222222222222222222222222 Yacute 8 0 22222222222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
8 12
a 22222222222222222222222222222222222222222222222 17
0 2222222222222222222222222222222222222222222222222222
1 2222222222222222222222222222222222222222222222222222
17 20
7 a 22222222222222222222222222222222222222222222222222 25
0 2222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
25 28
8 a middot 22222222222222222222222222222222222222222222 32
a 222222222222222222222222222222222222222222222222222 35 a L 2222222222222222222222 37
a 2222222222222222222222222222222222222222222222 41
2222222222222222222222222222222222222222222222222222222222 42
222222222222222222222222222222222222222222222222222222222222 44
)
3
NħEʼnłŐƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾȇȮȢNħEƈIumlAEligƸƢicircotildeƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓ
ȑȱƢicircłŐĤǾȠǺɛɪȺɯıȟįǺmicroiacuteɪɅȽǺżǺocircicircǺıĦɱıparaǺċijɱijǩğČŔȴƢ
icircłŐȏǺUgraveaumlƛOacuteȴWŴȞȑȱƛOacuteɡɲȻɲȭƛOacutepėǺıparaƝɡɲȻɲɱLJIJpėǺagraveƿ
ȝċijɱȿȵǺmicroiacuteǕčŔȟȹɘɍɯɅȴńőȏǺȔȲȯȴƭȨȆȕƛijȼȶɏɩȶɯȭmicroiacuteǕȼȶ
ɏɩȶɯŔȴmiddotȑȱȍțȞȮȖșǺɛɪȺɯıȟƛijǺǕǺatildeȤȌȕłŐȞƦĠȑȱȍțȴb
țȏșȄȱǻ ɛɪȺɯıȠƸƈdegȚſăĶȝŇŢudegİplusmnȚȃȱǻƱǺī+ocircicircȭŸŵǬēocircicircŔȞȮȱɛɪ
ȺɯıȟƛOacuteordmƉȠƅȏȋƸĀȏșȊȕǻɗɎȟɛɪȺɯıȟǂȠmicroiacuteg|ɛɪȺɯȉɗɎȃȱȄȠG
ĝȈȯEumlȑȱȍțȞȮȖșĴIJȑȱȟȚǺɛɪȺɯıȟyumlńȝUgraveaumlƛOacuteȠplusmnűȈȯȟ 2yacutemicroiacuteǕȟȕȫȞȬLJƍȚȃȱǻċijȞǓȏșȠĥUcircęȚȠacircFdegȉńőȏȕċijčȠȝȄȉǺpŅłŐȚȠ
ugraveǼȝampƌƆĝȉƎ9ȎȲǺyenȟżƞǪȞȌȕTȰšȩȉƸȏșȄȱǻ ȍȟǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȠɛɪȺɯıƛijȴǐțȏȝȄƁJȌȞmiddotȑȱȬ
ȟȚȃȱǻccedilIJȟƛOacuteȇȮȢċijȞǓȑȱȼȶɏɩȶɯȉUumlRȑȱȍțȞȮȰǺccedilIJȉUgraveaumlȞƛOacuteȎȲǺ
plusmnűȉȮȰUgraveȋagraveƿȝƛijȴUȌȱȍțȉȚȊȱucircȉsȆȱȍțȉaumlpoundȎȲȱǻ
ccedilȼȶɏɩȶɯȠǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾțǽɛɪȺɯıȟɂɲ
ɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾȟĤȟłŐƊűǺłŐiquestűǺłŐLBűȉ3Z
ȚmiddotȏȕɷĤd[řɳⅰɹⅱɞɲɄQěɴɸǻ4ĶȝmiddotȟŢũțȏșȠǺȨȒǺɛɪȺɯıǓĤȞȮȱɛɪȺɯıǓĤƷţƤɳmiddot 26 7 aacute 7 OslashǺJejuǺKoreaɴȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ2014ǾȴIacuteƕȏǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȴmiddotȑȱȍțȴĉȏȕǻyacuteȞǺmiddot 26łŐĤYZȟłŐq_ɳmiddot 27 1 aacute 19 OslashǺecircɴUcircȟłŐűƤȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȟoslashmiddotǺȼȶɏɩȶɯmiddotȟOtildečȭsup1ǢɳOntildeoœiquestiexclűǺŧǛȟOtildeNJŔɴȞȗȄșpccedilĶȝZsup3ȴumlȕǻƱȟƛijȼȶɏɩȶɯȞȠǺʼnĶethAacuteȞpȘȋLJIJǧȴ]ȪȍțȉćȫȯȲș
ȇȰǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȞȠǺOcircȕȞǽɛɪȺɯıȟLJIJǧǾȟǡĹȴCȆȱȍțțȏȕǻȔȟyenǺłŐĤYZȟŧǛdȚeǦęȴƗƤȏȝȉȯŧǛotildeȴƈȖȕǻ4Ķȝȼȶ
ɏɩȶɯȟmiddotOtildečɱsup1ǢȠȟƴȰȚȃȱǻ
3
4 a a R
a
0
1
a
0
1
)
7 a
0
1
8 a middot
a
a L
a a
13 OntildeoœiquestiexclűȠOntildețȝȱltŎȴmiddotȏȕǻǮ13 łŐĤHȠǺȑȥșȟOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺsup3ƎȴćȫȕǻǮ
13 łŐĤHȠǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ13 łŐĤHȠǺyumlȏȕOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺ8Ǻsup3ƎȴćȫȕǻǮ
(13 łŐĤHȠǺ8ǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ)13 łŐĤHȠǺȑȥșȟyumlOŎȴȨțȫɳYacuteĜɴǺYacuteĜȴɟɲɣɞɲɄȚ2ǑȏǺłŐĤǓűǺǓƷȚȃȱOslashccedilŇŢȇȮȢOslashccedilŇŢmicroiacuteIJǺplusmnűIgraveEcirchȚȃȱ
ɧɁɚıɂɠɲɎɓɊɎɮɲȽȈȯǺȎȯȞȋɖɚɪɊȽɁɤɯɎȴćȫȱǻȔȲȞpȘȊnotƍȝIacute
ƕȴCȆȕȬȟȴmiddotĜțȑȱǻǮ
13 middotȏȕȼȶɏɩȶɯȴ7|RȢɟɲɣɞɲɄŔȚ2ǑȑȱǻǮ
R [b
Medline ȴĩȄș 2015 3aacute 31OslashȨȚȟNtildeĠȉocircşȎȲȕǻ
L U b
ƛijȼȶɏɩȶɯȚȠǺċijȟǡȞȇȄșǺƘȞņȑǿMinds ƛijȼȶɏɩȶɯmiddotɡɑɨȵɫ Ver 11ǯ20140723ǰȀ1ȞȮȱȹɘɍɯɅɬɝɫǺAEligzȾɬɲɏȴĩȑȱǻ
Y6ĵHĨĵfrac34CcedilbYacute
Y6ĵHĨĜaumlĝŮHĥY6īŀYacute
Y6ĵHĨĜaringĝŮGĥY6īŀŦZqīŀŧYacute
ŦY6ĵHĨĜijĩĝŮdijY6ģİĤijğŧYacute
Yacute
Y6ĵĭĺĵĚŅŇŕŊŞacuteĵňřŔŢŏĵHĨYacute
iacuteŦHŧŮYacute mĵYĴHĥģĞŀYacute
icircŦŧŮYacute mĵYĴ FĵģĞŀYacute
iumlŦGŧŮYacute mĵYĴ=īŀĶOgraveİĞŀYacute
ethŦıįĻGğŧŮYacute mĵYģĸıńIJİĤijğYacute
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
i )
a L
4 5
1 MRI
4SSPE 5
4PML 5
-
4PML 5
ii )
a b L
6
6 )
FMC
a )
FMC
a L 2222222222222222 i
a b L 22222222222222 ii
a ) 2222222222222222222222 ii
3 22222222222222222222222222222222222222 Yacute 1
4 a a R 222222222222222222222 Yacute 4
a 222222222222222222222222222222222222222222222 Yacute 8 0 22222222222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
8 12
a 22222222222222222222222222222222222222222222222 17
0 2222222222222222222222222222222222222222222222222222
1 2222222222222222222222222222222222222222222222222222
17 20
7 a 22222222222222222222222222222222222222222222222222 25
0 2222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
25 28
8 a middot 22222222222222222222222222222222222222222222 32
a 222222222222222222222222222222222222222222222222222 35 a L 2222222222222222222222 37
a 2222222222222222222222222222222222222222222222 41
2222222222222222222222222222222222222222222222222222222222 42
222222222222222222222222222222222222222222222222222222222222 44
)
3
NħEʼnłŐƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾȇȮȢNħEƈIumlAEligƸƢicircotildeƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓ
ȑȱƢicircłŐĤǾȠǺɛɪȺɯıȟįǺmicroiacuteɪɅȽǺżǺocircicircǺıĦɱıparaǺċijɱijǩğČŔȴƢ
icircłŐȏǺUgraveaumlƛOacuteȴWŴȞȑȱƛOacuteɡɲȻɲȭƛOacutepėǺıparaƝɡɲȻɲɱLJIJpėǺagraveƿ
ȝċijɱȿȵǺmicroiacuteǕčŔȟȹɘɍɯɅȴńőȏǺȔȲȯȴƭȨȆȕƛijȼȶɏɩȶɯȭmicroiacuteǕȼȶ
ɏɩȶɯŔȴmiddotȑȱȍțȞȮȖșǺɛɪȺɯıȟƛijǺǕǺatildeȤȌȕłŐȞƦĠȑȱȍțȴb
țȏșȄȱǻ ɛɪȺɯıȠƸƈdegȚſăĶȝŇŢudegİplusmnȚȃȱǻƱǺī+ocircicircȭŸŵǬēocircicircŔȞȮȱɛɪ
ȺɯıȟƛOacuteordmƉȠƅȏȋƸĀȏșȊȕǻɗɎȟɛɪȺɯıȟǂȠmicroiacuteg|ɛɪȺɯȉɗɎȃȱȄȠG
ĝȈȯEumlȑȱȍțȞȮȖșĴIJȑȱȟȚǺɛɪȺɯıȟyumlńȝUgraveaumlƛOacuteȠplusmnűȈȯȟ 2yacutemicroiacuteǕȟȕȫȞȬLJƍȚȃȱǻċijȞǓȏșȠĥUcircęȚȠacircFdegȉńőȏȕċijčȠȝȄȉǺpŅłŐȚȠ
ugraveǼȝampƌƆĝȉƎ9ȎȲǺyenȟżƞǪȞȌȕTȰšȩȉƸȏșȄȱǻ ȍȟǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȠɛɪȺɯıƛijȴǐțȏȝȄƁJȌȞmiddotȑȱȬ
ȟȚȃȱǻccedilIJȟƛOacuteȇȮȢċijȞǓȑȱȼȶɏɩȶɯȉUumlRȑȱȍțȞȮȰǺccedilIJȉUgraveaumlȞƛOacuteȎȲǺ
plusmnűȉȮȰUgraveȋagraveƿȝƛijȴUȌȱȍțȉȚȊȱucircȉsȆȱȍțȉaumlpoundȎȲȱǻ
ccedilȼȶɏɩȶɯȠǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾțǽɛɪȺɯıȟɂɲ
ɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾȟĤȟłŐƊűǺłŐiquestűǺłŐLBűȉ3Z
ȚmiddotȏȕɷĤd[řɳⅰɹⅱɞɲɄQěɴɸǻ4ĶȝmiddotȟŢũțȏșȠǺȨȒǺɛɪȺɯıǓĤȞȮȱɛɪȺɯıǓĤƷţƤɳmiddot 26 7 aacute 7 OslashǺJejuǺKoreaɴȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ2014ǾȴIacuteƕȏǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȴmiddotȑȱȍțȴĉȏȕǻyacuteȞǺmiddot 26łŐĤYZȟłŐq_ɳmiddot 27 1 aacute 19 OslashǺecircɴUcircȟłŐűƤȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȟoslashmiddotǺȼȶɏɩȶɯmiddotȟOtildečȭsup1ǢɳOntildeoœiquestiexclűǺŧǛȟOtildeNJŔɴȞȗȄșpccedilĶȝZsup3ȴumlȕǻƱȟƛijȼȶɏɩȶɯȞȠǺʼnĶethAacuteȞpȘȋLJIJǧȴ]ȪȍțȉćȫȯȲș
ȇȰǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȞȠǺOcircȕȞǽɛɪȺɯıȟLJIJǧǾȟǡĹȴCȆȱȍțțȏȕǻȔȟyenǺłŐĤYZȟŧǛdȚeǦęȴƗƤȏȝȉȯŧǛotildeȴƈȖȕǻ4Ķȝȼȶ
ɏɩȶɯȟmiddotOtildečɱsup1ǢȠȟƴȰȚȃȱǻ
3
4 a a R
a
0
1
a
0
1
)
7 a
0
1
8 a middot
a
a L
a a
13 OntildeoœiquestiexclűȠOntildețȝȱltŎȴmiddotȏȕǻǮ13 łŐĤHȠǺȑȥșȟOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺsup3ƎȴćȫȕǻǮ
13 łŐĤHȠǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ13 łŐĤHȠǺyumlȏȕOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺ8Ǻsup3ƎȴćȫȕǻǮ
(13 łŐĤHȠǺ8ǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ)13 łŐĤHȠǺȑȥșȟyumlOŎȴȨțȫɳYacuteĜɴǺYacuteĜȴɟɲɣɞɲɄȚ2ǑȏǺłŐĤǓűǺǓƷȚȃȱOslashccedilŇŢȇȮȢOslashccedilŇŢmicroiacuteIJǺplusmnűIgraveEcirchȚȃȱ
ɧɁɚıɂɠɲɎɓɊɎɮɲȽȈȯǺȎȯȞȋɖɚɪɊȽɁɤɯɎȴćȫȱǻȔȲȞpȘȊnotƍȝIacute
ƕȴCȆȕȬȟȴmiddotĜțȑȱǻǮ
13 middotȏȕȼȶɏɩȶɯȴ7|RȢɟɲɣɞɲɄŔȚ2ǑȑȱǻǮ
R [b
Medline ȴĩȄș 2015 3aacute 31OslashȨȚȟNtildeĠȉocircşȎȲȕǻ
L U b
ƛijȼȶɏɩȶɯȚȠǺċijȟǡȞȇȄșǺƘȞņȑǿMinds ƛijȼȶɏɩȶɯmiddotɡɑɨȵɫ Ver 11ǯ20140723ǰȀ1ȞȮȱȹɘɍɯɅɬɝɫǺAEligzȾɬɲɏȴĩȑȱǻ
Y6ĵHĨĵfrac34CcedilbYacute
Y6ĵHĨĜaumlĝŮHĥY6īŀYacute
Y6ĵHĨĜaringĝŮGĥY6īŀŦZqīŀŧYacute
ŦY6ĵHĨĜijĩĝŮdijY6ģİĤijğŧYacute
Yacute
Y6ĵĭĺĵĚŅŇŕŊŞacuteĵňřŔŢŏĵHĨYacute
iacuteŦHŧŮYacute mĵYĴHĥģĞŀYacute
icircŦŧŮYacute mĵYĴ FĵģĞŀYacute
iumlŦGŧŮYacute mĵYĴ=īŀĶOgraveİĞŀYacute
ethŦıįĻGğŧŮYacute mĵYģĸıńIJİĤijğYacute
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
ii )
a b L
6
6 )
FMC
a )
FMC
a L 2222222222222222 i
a b L 22222222222222 ii
a ) 2222222222222222222222 ii
3 22222222222222222222222222222222222222 Yacute 1
4 a a R 222222222222222222222 Yacute 4
a 222222222222222222222222222222222222222222222 Yacute 8 0 22222222222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
8 12
a 22222222222222222222222222222222222222222222222 17
0 2222222222222222222222222222222222222222222222222222
1 2222222222222222222222222222222222222222222222222222
17 20
7 a 22222222222222222222222222222222222222222222222222 25
0 2222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
25 28
8 a middot 22222222222222222222222222222222222222222222 32
a 222222222222222222222222222222222222222222222222222 35 a L 2222222222222222222222 37
a 2222222222222222222222222222222222222222222222 41
2222222222222222222222222222222222222222222222222222222222 42
222222222222222222222222222222222222222222222222222222222222 44
)
3
NħEʼnłŐƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾȇȮȢNħEƈIumlAEligƸƢicircotildeƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓ
ȑȱƢicircłŐĤǾȠǺɛɪȺɯıȟįǺmicroiacuteɪɅȽǺżǺocircicircǺıĦɱıparaǺċijɱijǩğČŔȴƢ
icircłŐȏǺUgraveaumlƛOacuteȴWŴȞȑȱƛOacuteɡɲȻɲȭƛOacutepėǺıparaƝɡɲȻɲɱLJIJpėǺagraveƿ
ȝċijɱȿȵǺmicroiacuteǕčŔȟȹɘɍɯɅȴńőȏǺȔȲȯȴƭȨȆȕƛijȼȶɏɩȶɯȭmicroiacuteǕȼȶ
ɏɩȶɯŔȴmiddotȑȱȍțȞȮȖșǺɛɪȺɯıȟƛijǺǕǺatildeȤȌȕłŐȞƦĠȑȱȍțȴb
țȏșȄȱǻ ɛɪȺɯıȠƸƈdegȚſăĶȝŇŢudegİplusmnȚȃȱǻƱǺī+ocircicircȭŸŵǬēocircicircŔȞȮȱɛɪ
ȺɯıȟƛOacuteordmƉȠƅȏȋƸĀȏșȊȕǻɗɎȟɛɪȺɯıȟǂȠmicroiacuteg|ɛɪȺɯȉɗɎȃȱȄȠG
ĝȈȯEumlȑȱȍțȞȮȖșĴIJȑȱȟȚǺɛɪȺɯıȟyumlńȝUgraveaumlƛOacuteȠplusmnűȈȯȟ 2yacutemicroiacuteǕȟȕȫȞȬLJƍȚȃȱǻċijȞǓȏșȠĥUcircęȚȠacircFdegȉńőȏȕċijčȠȝȄȉǺpŅłŐȚȠ
ugraveǼȝampƌƆĝȉƎ9ȎȲǺyenȟżƞǪȞȌȕTȰšȩȉƸȏșȄȱǻ ȍȟǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȠɛɪȺɯıƛijȴǐțȏȝȄƁJȌȞmiddotȑȱȬ
ȟȚȃȱǻccedilIJȟƛOacuteȇȮȢċijȞǓȑȱȼȶɏɩȶɯȉUumlRȑȱȍțȞȮȰǺccedilIJȉUgraveaumlȞƛOacuteȎȲǺ
plusmnűȉȮȰUgraveȋagraveƿȝƛijȴUȌȱȍțȉȚȊȱucircȉsȆȱȍțȉaumlpoundȎȲȱǻ
ccedilȼȶɏɩȶɯȠǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾțǽɛɪȺɯıȟɂɲ
ɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾȟĤȟłŐƊűǺłŐiquestűǺłŐLBűȉ3Z
ȚmiddotȏȕɷĤd[řɳⅰɹⅱɞɲɄQěɴɸǻ4ĶȝmiddotȟŢũțȏșȠǺȨȒǺɛɪȺɯıǓĤȞȮȱɛɪȺɯıǓĤƷţƤɳmiddot 26 7 aacute 7 OslashǺJejuǺKoreaɴȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ2014ǾȴIacuteƕȏǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȴmiddotȑȱȍțȴĉȏȕǻyacuteȞǺmiddot 26łŐĤYZȟłŐq_ɳmiddot 27 1 aacute 19 OslashǺecircɴUcircȟłŐűƤȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȟoslashmiddotǺȼȶɏɩȶɯmiddotȟOtildečȭsup1ǢɳOntildeoœiquestiexclűǺŧǛȟOtildeNJŔɴȞȗȄșpccedilĶȝZsup3ȴumlȕǻƱȟƛijȼȶɏɩȶɯȞȠǺʼnĶethAacuteȞpȘȋLJIJǧȴ]ȪȍțȉćȫȯȲș
ȇȰǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȞȠǺOcircȕȞǽɛɪȺɯıȟLJIJǧǾȟǡĹȴCȆȱȍțțȏȕǻȔȟyenǺłŐĤYZȟŧǛdȚeǦęȴƗƤȏȝȉȯŧǛotildeȴƈȖȕǻ4Ķȝȼȶ
ɏɩȶɯȟmiddotOtildečɱsup1ǢȠȟƴȰȚȃȱǻ
3
4 a a R
a
0
1
a
0
1
)
7 a
0
1
8 a middot
a
a L
a a
13 OntildeoœiquestiexclűȠOntildețȝȱltŎȴmiddotȏȕǻǮ13 łŐĤHȠǺȑȥșȟOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺsup3ƎȴćȫȕǻǮ
13 łŐĤHȠǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ13 łŐĤHȠǺyumlȏȕOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺ8Ǻsup3ƎȴćȫȕǻǮ
(13 łŐĤHȠǺ8ǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ)13 łŐĤHȠǺȑȥșȟyumlOŎȴȨțȫɳYacuteĜɴǺYacuteĜȴɟɲɣɞɲɄȚ2ǑȏǺłŐĤǓűǺǓƷȚȃȱOslashccedilŇŢȇȮȢOslashccedilŇŢmicroiacuteIJǺplusmnűIgraveEcirchȚȃȱ
ɧɁɚıɂɠɲɎɓɊɎɮɲȽȈȯǺȎȯȞȋɖɚɪɊȽɁɤɯɎȴćȫȱǻȔȲȞpȘȊnotƍȝIacute
ƕȴCȆȕȬȟȴmiddotĜțȑȱǻǮ
13 middotȏȕȼȶɏɩȶɯȴ7|RȢɟɲɣɞɲɄŔȚ2ǑȑȱǻǮ
R [b
Medline ȴĩȄș 2015 3aacute 31OslashȨȚȟNtildeĠȉocircşȎȲȕǻ
L U b
ƛijȼȶɏɩȶɯȚȠǺċijȟǡȞȇȄșǺƘȞņȑǿMinds ƛijȼȶɏɩȶɯmiddotɡɑɨȵɫ Ver 11ǯ20140723ǰȀ1ȞȮȱȹɘɍɯɅɬɝɫǺAEligzȾɬɲɏȴĩȑȱǻ
Y6ĵHĨĵfrac34CcedilbYacute
Y6ĵHĨĜaumlĝŮHĥY6īŀYacute
Y6ĵHĨĜaringĝŮGĥY6īŀŦZqīŀŧYacute
ŦY6ĵHĨĜijĩĝŮdijY6ģİĤijğŧYacute
Yacute
Y6ĵĭĺĵĚŅŇŕŊŞacuteĵňřŔŢŏĵHĨYacute
iacuteŦHŧŮYacute mĵYĴHĥģĞŀYacute
icircŦŧŮYacute mĵYĴ FĵģĞŀYacute
iumlŦGŧŮYacute mĵYĴ=īŀĶOgraveİĞŀYacute
ethŦıįĻGğŧŮYacute mĵYģĸıńIJİĤijğYacute
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
a L 2222222222222222 i
a b L 22222222222222 ii
a ) 2222222222222222222222 ii
3 22222222222222222222222222222222222222 Yacute 1
4 a a R 222222222222222222222 Yacute 4
a 222222222222222222222222222222222222222222222 Yacute 8 0 22222222222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
8 12
a 22222222222222222222222222222222222222222222222 17
0 2222222222222222222222222222222222222222222222222222
1 2222222222222222222222222222222222222222222222222222
17 20
7 a 22222222222222222222222222222222222222222222222222 25
0 2222222222222222222222222222222222222222222222222222
1 22222222222222222222222222222222222222222222222222222
25 28
8 a middot 22222222222222222222222222222222222222222222 32
a 222222222222222222222222222222222222222222222222222 35 a L 2222222222222222222222 37
a 2222222222222222222222222222222222222222222222 41
2222222222222222222222222222222222222222222222222222222222 42
222222222222222222222222222222222222222222222222222222222222 44
)
3
NħEʼnłŐƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾȇȮȢNħEƈIumlAEligƸƢicircotildeƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓ
ȑȱƢicircłŐĤǾȠǺɛɪȺɯıȟįǺmicroiacuteɪɅȽǺżǺocircicircǺıĦɱıparaǺċijɱijǩğČŔȴƢ
icircłŐȏǺUgraveaumlƛOacuteȴWŴȞȑȱƛOacuteɡɲȻɲȭƛOacutepėǺıparaƝɡɲȻɲɱLJIJpėǺagraveƿ
ȝċijɱȿȵǺmicroiacuteǕčŔȟȹɘɍɯɅȴńőȏǺȔȲȯȴƭȨȆȕƛijȼȶɏɩȶɯȭmicroiacuteǕȼȶ
ɏɩȶɯŔȴmiddotȑȱȍțȞȮȖșǺɛɪȺɯıȟƛijǺǕǺatildeȤȌȕłŐȞƦĠȑȱȍțȴb
țȏșȄȱǻ ɛɪȺɯıȠƸƈdegȚſăĶȝŇŢudegİplusmnȚȃȱǻƱǺī+ocircicircȭŸŵǬēocircicircŔȞȮȱɛɪ
ȺɯıȟƛOacuteordmƉȠƅȏȋƸĀȏșȊȕǻɗɎȟɛɪȺɯıȟǂȠmicroiacuteg|ɛɪȺɯȉɗɎȃȱȄȠG
ĝȈȯEumlȑȱȍțȞȮȖșĴIJȑȱȟȚǺɛɪȺɯıȟyumlńȝUgraveaumlƛOacuteȠplusmnűȈȯȟ 2yacutemicroiacuteǕȟȕȫȞȬLJƍȚȃȱǻċijȞǓȏșȠĥUcircęȚȠacircFdegȉńőȏȕċijčȠȝȄȉǺpŅłŐȚȠ
ugraveǼȝampƌƆĝȉƎ9ȎȲǺyenȟżƞǪȞȌȕTȰšȩȉƸȏșȄȱǻ ȍȟǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȠɛɪȺɯıƛijȴǐțȏȝȄƁJȌȞmiddotȑȱȬ
ȟȚȃȱǻccedilIJȟƛOacuteȇȮȢċijȞǓȑȱȼȶɏɩȶɯȉUumlRȑȱȍțȞȮȰǺccedilIJȉUgraveaumlȞƛOacuteȎȲǺ
plusmnűȉȮȰUgraveȋagraveƿȝƛijȴUȌȱȍțȉȚȊȱucircȉsȆȱȍțȉaumlpoundȎȲȱǻ
ccedilȼȶɏɩȶɯȠǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾțǽɛɪȺɯıȟɂɲ
ɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾȟĤȟłŐƊűǺłŐiquestűǺłŐLBűȉ3Z
ȚmiddotȏȕɷĤd[řɳⅰɹⅱɞɲɄQěɴɸǻ4ĶȝmiddotȟŢũțȏșȠǺȨȒǺɛɪȺɯıǓĤȞȮȱɛɪȺɯıǓĤƷţƤɳmiddot 26 7 aacute 7 OslashǺJejuǺKoreaɴȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ2014ǾȴIacuteƕȏǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȴmiddotȑȱȍțȴĉȏȕǻyacuteȞǺmiddot 26łŐĤYZȟłŐq_ɳmiddot 27 1 aacute 19 OslashǺecircɴUcircȟłŐűƤȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȟoslashmiddotǺȼȶɏɩȶɯmiddotȟOtildečȭsup1ǢɳOntildeoœiquestiexclűǺŧǛȟOtildeNJŔɴȞȗȄșpccedilĶȝZsup3ȴumlȕǻƱȟƛijȼȶɏɩȶɯȞȠǺʼnĶethAacuteȞpȘȋLJIJǧȴ]ȪȍțȉćȫȯȲș
ȇȰǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȞȠǺOcircȕȞǽɛɪȺɯıȟLJIJǧǾȟǡĹȴCȆȱȍțțȏȕǻȔȟyenǺłŐĤYZȟŧǛdȚeǦęȴƗƤȏȝȉȯŧǛotildeȴƈȖȕǻ4Ķȝȼȶ
ɏɩȶɯȟmiddotOtildečɱsup1ǢȠȟƴȰȚȃȱǻ
3
4 a a R
a
0
1
a
0
1
)
7 a
0
1
8 a middot
a
a L
a a
13 OntildeoœiquestiexclűȠOntildețȝȱltŎȴmiddotȏȕǻǮ13 łŐĤHȠǺȑȥșȟOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺsup3ƎȴćȫȕǻǮ
13 łŐĤHȠǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ13 łŐĤHȠǺyumlȏȕOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺ8Ǻsup3ƎȴćȫȕǻǮ
(13 łŐĤHȠǺ8ǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ)13 łŐĤHȠǺȑȥșȟyumlOŎȴȨțȫɳYacuteĜɴǺYacuteĜȴɟɲɣɞɲɄȚ2ǑȏǺłŐĤǓűǺǓƷȚȃȱOslashccedilŇŢȇȮȢOslashccedilŇŢmicroiacuteIJǺplusmnűIgraveEcirchȚȃȱ
ɧɁɚıɂɠɲɎɓɊɎɮɲȽȈȯǺȎȯȞȋɖɚɪɊȽɁɤɯɎȴćȫȱǻȔȲȞpȘȊnotƍȝIacute
ƕȴCȆȕȬȟȴmiddotĜțȑȱǻǮ
13 middotȏȕȼȶɏɩȶɯȴ7|RȢɟɲɣɞɲɄŔȚ2ǑȑȱǻǮ
R [b
Medline ȴĩȄș 2015 3aacute 31OslashȨȚȟNtildeĠȉocircşȎȲȕǻ
L U b
ƛijȼȶɏɩȶɯȚȠǺċijȟǡȞȇȄșǺƘȞņȑǿMinds ƛijȼȶɏɩȶɯmiddotɡɑɨȵɫ Ver 11ǯ20140723ǰȀ1ȞȮȱȹɘɍɯɅɬɝɫǺAEligzȾɬɲɏȴĩȑȱǻ
Y6ĵHĨĵfrac34CcedilbYacute
Y6ĵHĨĜaumlĝŮHĥY6īŀYacute
Y6ĵHĨĜaringĝŮGĥY6īŀŦZqīŀŧYacute
ŦY6ĵHĨĜijĩĝŮdijY6ģİĤijğŧYacute
Yacute
Y6ĵĭĺĵĚŅŇŕŊŞacuteĵňřŔŢŏĵHĨYacute
iacuteŦHŧŮYacute mĵYĴHĥģĞŀYacute
icircŦŧŮYacute mĵYĴ FĵģĞŀYacute
iumlŦGŧŮYacute mĵYĴ=īŀĶOgraveİĞŀYacute
ethŦıįĻGğŧŮYacute mĵYģĸıńIJİĤijğYacute
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
3
NħEʼnłŐƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾȇȮȢNħEƈIumlAEligƸƢicircotildeƧƌDlj ǜċdegİplusmnŔIumlŖłŐotildeɳǜċdegİplusmnIumlŖłŐotildeɴɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓ
ȑȱƢicircłŐĤǾȠǺɛɪȺɯıȟįǺmicroiacuteɪɅȽǺżǺocircicircǺıĦɱıparaǺċijɱijǩğČŔȴƢ
icircłŐȏǺUgraveaumlƛOacuteȴWŴȞȑȱƛOacuteɡɲȻɲȭƛOacutepėǺıparaƝɡɲȻɲɱLJIJpėǺagraveƿ
ȝċijɱȿȵǺmicroiacuteǕčŔȟȹɘɍɯɅȴńőȏǺȔȲȯȴƭȨȆȕƛijȼȶɏɩȶɯȭmicroiacuteǕȼȶ
ɏɩȶɯŔȴmiddotȑȱȍțȞȮȖșǺɛɪȺɯıȟƛijǺǕǺatildeȤȌȕłŐȞƦĠȑȱȍțȴb
țȏșȄȱǻ ɛɪȺɯıȠƸƈdegȚſăĶȝŇŢudegİplusmnȚȃȱǻƱǺī+ocircicircȭŸŵǬēocircicircŔȞȮȱɛɪ
ȺɯıȟƛOacuteordmƉȠƅȏȋƸĀȏșȊȕǻɗɎȟɛɪȺɯıȟǂȠmicroiacuteg|ɛɪȺɯȉɗɎȃȱȄȠG
ĝȈȯEumlȑȱȍțȞȮȖșĴIJȑȱȟȚǺɛɪȺɯıȟyumlńȝUgraveaumlƛOacuteȠplusmnűȈȯȟ 2yacutemicroiacuteǕȟȕȫȞȬLJƍȚȃȱǻċijȞǓȏșȠĥUcircęȚȠacircFdegȉńőȏȕċijčȠȝȄȉǺpŅłŐȚȠ
ugraveǼȝampƌƆĝȉƎ9ȎȲǺyenȟżƞǪȞȌȕTȰšȩȉƸȏșȄȱǻ ȍȟǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȠɛɪȺɯıƛijȴǐțȏȝȄƁJȌȞmiddotȑȱȬ
ȟȚȃȱǻccedilIJȟƛOacuteȇȮȢċijȞǓȑȱȼȶɏɩȶɯȉUumlRȑȱȍțȞȮȰǺccedilIJȉUgraveaumlȞƛOacuteȎȲǺ
plusmnűȉȮȰUgraveȋagraveƿȝƛijȴUȌȱȍțȉȚȊȱucircȉsȆȱȍțȉaumlpoundȎȲȱǻ
ccedilȼȶɏɩȶɯȠǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircłŐĤǾțǽɛɪȺɯıȟɂɲ
ɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾȟĤȟłŐƊűǺłŐiquestűǺłŐLBűȉ3Z
ȚmiddotȏȕɷĤd[řɳⅰɹⅱɞɲɄQěɴɸǻ4ĶȝmiddotȟŢũțȏșȠǺȨȒǺɛɪȺɯıǓĤȞȮȱɛɪȺɯıǓĤƷţƤɳmiddot 26 7 aacute 7 OslashǺJejuǺKoreaɴȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ2014ǾȴIacuteƕȏǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȴmiddotȑȱȍțȴĉȏȕǻyacuteȞǺmiddot 26łŐĤYZȟłŐq_ɳmiddot 27 1 aacute 19 OslashǺecircɴUcircȟłŐűƤȞșǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȟoslashmiddotǺȼȶɏɩȶɯmiddotȟOtildečȭsup1ǢɳOntildeoœiquestiexclűǺŧǛȟOtildeNJŔɴȞȗȄșpccedilĶȝZsup3ȴumlȕǻƱȟƛijȼȶɏɩȶɯȞȠǺʼnĶethAacuteȞpȘȋLJIJǧȴ]ȪȍțȉćȫȯȲș
ȇȰǺǽɛɪȺɯıƛijȼȶɏɩȶɯ 2017ǾȞȠǺOcircȕȞǽɛɪȺɯıȟLJIJǧǾȟǡĹȴCȆȱȍțțȏȕǻȔȟyenǺłŐĤYZȟŧǛdȚeǦęȴƗƤȏȝȉȯŧǛotildeȴƈȖȕǻ4Ķȝȼȶ
ɏɩȶɯȟmiddotOtildečɱsup1ǢȠȟƴȰȚȃȱǻ
3
4 a a R
a
0
1
a
0
1
)
7 a
0
1
8 a middot
a
a L
a a
13 OntildeoœiquestiexclűȠOntildețȝȱltŎȴmiddotȏȕǻǮ13 łŐĤHȠǺȑȥșȟOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺsup3ƎȴćȫȕǻǮ
13 łŐĤHȠǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ13 łŐĤHȠǺyumlȏȕOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺ8Ǻsup3ƎȴćȫȕǻǮ
(13 łŐĤHȠǺ8ǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ)13 łŐĤHȠǺȑȥșȟyumlOŎȴȨțȫɳYacuteĜɴǺYacuteĜȴɟɲɣɞɲɄȚ2ǑȏǺłŐĤǓűǺǓƷȚȃȱOslashccedilŇŢȇȮȢOslashccedilŇŢmicroiacuteIJǺplusmnűIgraveEcirchȚȃȱ
ɧɁɚıɂɠɲɎɓɊɎɮɲȽȈȯǺȎȯȞȋɖɚɪɊȽɁɤɯɎȴćȫȱǻȔȲȞpȘȊnotƍȝIacute
ƕȴCȆȕȬȟȴmiddotĜțȑȱǻǮ
13 middotȏȕȼȶɏɩȶɯȴ7|RȢɟɲɣɞɲɄŔȚ2ǑȑȱǻǮ
R [b
Medline ȴĩȄș 2015 3aacute 31OslashȨȚȟNtildeĠȉocircşȎȲȕǻ
L U b
ƛijȼȶɏɩȶɯȚȠǺċijȟǡȞȇȄșǺƘȞņȑǿMinds ƛijȼȶɏɩȶɯmiddotɡɑɨȵɫ Ver 11ǯ20140723ǰȀ1ȞȮȱȹɘɍɯɅɬɝɫǺAEligzȾɬɲɏȴĩȑȱǻ
Y6ĵHĨĵfrac34CcedilbYacute
Y6ĵHĨĜaumlĝŮHĥY6īŀYacute
Y6ĵHĨĜaringĝŮGĥY6īŀŦZqīŀŧYacute
ŦY6ĵHĨĜijĩĝŮdijY6ģİĤijğŧYacute
Yacute
Y6ĵĭĺĵĚŅŇŕŊŞacuteĵňřŔŢŏĵHĨYacute
iacuteŦHŧŮYacute mĵYĴHĥģĞŀYacute
icircŦŧŮYacute mĵYĴ FĵģĞŀYacute
iumlŦGŧŮYacute mĵYĴ=īŀĶOgraveİĞŀYacute
ethŦıįĻGğŧŮYacute mĵYģĸıńIJİĤijğYacute
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
7 a
0
1
8 a middot
a
a L
a a
13 OntildeoœiquestiexclűȠOntildețȝȱltŎȴmiddotȏȕǻǮ13 łŐĤHȠǺȑȥșȟOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺsup3ƎȴćȫȕǻǮ
13 łŐĤHȠǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ13 łŐĤHȠǺyumlȏȕOŎȴȨțȫșǺȔȲȴłŐĤǓű1dȞOŎȴǔƑȏǺ8Ǻsup3ƎȴćȫȕǻǮ
(13 łŐĤHȠǺ8ǺȓȯȲȕsup3ƎȴOntildeoœűȞƲȏǺOŎȟocircƗɱIacuteƕȴǥȏȕǻǮ)13 łŐĤHȠǺȑȥșȟyumlOŎȴȨțȫɳYacuteĜɴǺYacuteĜȴɟɲɣɞɲɄȚ2ǑȏǺłŐĤǓűǺǓƷȚȃȱOslashccedilŇŢȇȮȢOslashccedilŇŢmicroiacuteIJǺplusmnűIgraveEcirchȚȃȱ
ɧɁɚıɂɠɲɎɓɊɎɮɲȽȈȯǺȎȯȞȋɖɚɪɊȽɁɤɯɎȴćȫȱǻȔȲȞpȘȊnotƍȝIacute
ƕȴCȆȕȬȟȴmiddotĜțȑȱǻǮ
13 middotȏȕȼȶɏɩȶɯȴ7|RȢɟɲɣɞɲɄŔȚ2ǑȑȱǻǮ
R [b
Medline ȴĩȄș 2015 3aacute 31OslashȨȚȟNtildeĠȉocircşȎȲȕǻ
L U b
ƛijȼȶɏɩȶɯȚȠǺċijȟǡȞȇȄșǺƘȞņȑǿMinds ƛijȼȶɏɩȶɯmiddotɡɑɨȵɫ Ver 11ǯ20140723ǰȀ1ȞȮȱȹɘɍɯɅɬɝɫǺAEligzȾɬɲɏȴĩȑȱǻ
Y6ĵHĨĵfrac34CcedilbYacute
Y6ĵHĨĜaumlĝŮHĥY6īŀYacute
Y6ĵHĨĜaringĝŮGĥY6īŀŦZqīŀŧYacute
ŦY6ĵHĨĜijĩĝŮdijY6ģİĤijğŧYacute
Yacute
Y6ĵĭĺĵĚŅŇŕŊŞacuteĵňřŔŢŏĵHĨYacute
iacuteŦHŧŮYacute mĵYĴHĥģĞŀYacute
icircŦŧŮYacute mĵYĴ FĵģĞŀYacute
iumlŦGŧŮYacute mĵYĴ=īŀĶOgraveİĞŀYacute
ethŦıįĻGğŧŮYacute mĵYģĸıńIJİĤijğYacute
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
Y6`ĵfrac34CcedilbYacute
ŪŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃY6īŀŦaumliacuteŧYacute
Yacute igraveYacute ŦHğY6ĚHğpVĴĮĥŧYacute
ūŧOnot ouml Ĵ=ĩį| oacute ŃparaĠħıŃkĤİY6īŀŦaringiumlŧYacute
Yacute igraveYacute ŦGğY6ĚGğpVĴĮĥŧYacute
ŬŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃY6īŀŦaringethŧYacute
Yacute igraveYacute ŦGğY6ĚıįĻGğpVĴĮĥŧYacute
ŭŧOnot ouml Ĵ=ĩį| oacute ŃparałijğħıŃHĥY6īŀŦaumlicircŧYacute
Yacute igraveYacute ŦHğY6Ě FĵpVĴĮĥŧYacute
(
L
$ǙƛijvȟocircicircɱċijȞȗȄșȬȼȶɏɩȶɯȞ]ȫǺ$ǙƛijȚƠȫȯȲșȄȝȄrYȠǺď
džțȏșȔȲȴUacuteņȑȱțȄȅOtildeNJȴțȖȕǻǮ
Ǯ
L
ccedilȼȶɏɩȶɯmiddotȟƨljĖȠccedilłŐĤȞȎȲȕNħEʼnłŐƧƌDljȞȮȱǻccedilȼȶɏ
ɩȶɯmiddotȞsectȏȕłŐƊűǺłŐiquestűȠgtĸĻSȞǓȑȱicircȴUȌȕǻq_ȑȥȊgtĸ
ĻSǡȠȝȈȖȕǻǮ Ǯ
-
13 Minds Ver11 2014072313
EBM 2014-
httpminds4jcqhcorjpmindsguidelinepdfmanual_all_11pdf13
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
4 a a R
3 bull śŠʼnŢĶQn)8śŠʼnŢĴĽŀEgraveQnİĚEumlparaNİsup3yijbrvbar2NOĵordfİĞŀě
bull śŠʼnŢĵjRĶwA-ĵśŠʼnŢmicroŦāăĉĉĒĉyumlďYacute čďćČċYacute čďČđăćċeumlYacuteoumlďoumliumlŧĵuEcircģ2ĩįĪŀQn-ĵAśŠʼnŢmicroTHORNugraveāďyumlčćăYacuteoumlďoumleumlYacuteoumlďoumlugraveāszligıĨŁįğŀěYacute
bull ŘŕĵśŠʼnŢĶpound auml ũaumlatildeatilde ŤCĵİĚTHORNaumlszlig9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ
Ŧ iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocirceth ŧ Ŧ ) d ŧ Ě THORNaringszlig Icirc 13 N yacute Icirc 13 N iumlocirceth Ě
ograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ŦograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăďeumlYacute ograveugraveugraveŧĚsup3yNltcN
Yacute THORNĄyumlđyumlĉYacuteĄyumlĊćĉćyumlĉYacutećċĐČĊċćyumleumlYacutentildentildeoacuteszligYacutethornŦoumlďouml Icirc1382ĴĽŀŧĚTHORNaeligszligYacute KNyacuteN iumlocircethŦŦdegr
I iumlocircethYacuteTHORNĂĒďyumlYacuteĊyumlđăďYacuteąďyumlĄđYacuteyumlĐĐČāćyumlđăĂYacuteiumlocircetheumlYacuteĂiumlocircethszligYacute ijIJŧĚ2- iumlocircethYacuteTHORNēyumlďćyumlċđYacuteiumlocircetheumlYacuteēiumlocircethszligYacute ŧŦś
ŠʼnŢķĵeOumlĴĽŀŧĴUacuteĨŁŀěYacute
bull iumlocirceth -ĶMEacuteEumlparaNĵbrvbarŤcentŦAacuteĚŝʼnŋšťŗŏĚNfrac12ijIJŧŃīģĚzAEligcopyJEumlparaNĵtimes-ĻĞŀħıĴPīŀěYacute
bullpj|ĶijĥĚ=ŤX|ĚŌŅŃparaĠě Ģľiquest[ŃĦŀħıģİĤŀě
2 3 a
a
ɛɪȺɯıȠmicroiacuteg|ɛɪȺɯɳprionɴȞȮȱmicroiacutedegȚſăĶȝŇŢudegİplusmnȟŭȚȃȱǻĞordfĶȝıĦ+ȈȯƽdegđŤğŸIJɳtransmissible spongiform encephalopathies TSEɴțȬaȡȲȱǻɛɪȺɯıȠōȟtȴƫȆșEumlȑȱġ3ƴmicroiacuteIJȚȃȱɳƊǵDZDzɴǻɛɪȺɯȠȟyumlƇĵƩȚ
ȃȱ PrP ȟoslashƶȉuIȏȕĭɛɪȺɯƇĵȔȟȬȟȚȃȰǺȔȲȞȮȱɛɪȺɯıĴıucircɳɛɪȺɯơɴȠwETHȟłŐȞȮȖșƋȌȯȲșȊȕ 1ǻ
PrPCȠǺŒ 20iacuteƂȞȃȱǀ|ȈȯȗȋȯȲǺȞigraveŇŢŝȚǺLjȠɪɯɖŝšūȚĴĥȏșȇȰǺɛɭɌȵɲɇmicroUdegȚmicroiacutedegȟȝȄƇĵȚȃȱǻPrPCȠ 253 ȵɢɔDžȟɠɪɞɛɉɏțȏșĨħȎȲǺagraveltȟ 22 ȵɢɔDžɳɃȾɐɫɞɛɉɏɴȉůƚUcircȞǗPȎȲǺȎȯȞůƚyenȞ 230 ĄpȟŬȞ GPIȵɯȻɲȉCȎȲȱǻ181RȢ 197ĄpȠŜǍCǂȚȃȱǻŒ 51ɹ91ĄpȟǒȞ 8ȵɢɔDžȟScopyDŽǂȉlȑȱǻOtildeǺɛɪȺɯıȚȠǺPrPC ȉɛɭɌȵɲɇfrac34frac12degȟmicroiacutenȟĭɛ
ɪȺɯƇĵ PrPScȞuIȏǺŸ6ȚŇŢŠųȴǚȏĴIJȑȱǻPrPCȈȯ PrPScȤȟuEgraveȠ PrP ȟőoslashƶȟuIțŰȆȯȲșȇȰɳβ ɃɲɎoslashƶȞȪȮȅȞȝȱɴǺɛɪȺɯmicroiacuteŠųĪeacuteȟ PrPScțAringƓ
ȏȕŠųȟ PrPCȠǺPrPScȴNjnȞȏș PrPScȞoslashƶuEgraveȑȱȬȟțŰȆȯȲșȄȱǻ PrPScȟoslashƶȟƾȄȠɛɪȺɯıȟı+ȟƾȄȞǓȑȱǻPrPǀ|ȟwnɳɁɏɯ 129Ǻ219ɴȠɛ
ɪȺɯıȟİplusmnmicroUdegȭı+ȞǺuĭȠǀdegɛɪȺɯıȞǓƷȏșȄȱǻ
ȁŶďȂ ɛɭɌȵɲɇȞȏșugraveǼȝmicroUdegȴņȑǟ5nĶȝ~ĴdegɛɪȺɯıȟŭȉ variably protease-sensitive prionopathy ǯVPSPrǰǮ țȏșƱq_ȎȲșȄȱɳZou WQ et al Ann Neurol 2010 68162-172ȦȈɴ
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
( )
4 a
A ǯscrapieǰ
ǯbovine spongiform encephalopathy BSEǰ ǯchronic wasting disease CWDǰ
9
B Creutzfeldt-Jakob ǯCJDǰ
Variably protease-sensitive prionopathy ǯVPSPrǰ CJD
Gerstmann-Straumlussler-Scheinker ǯGSSǰ ǯfatal familial insomnia FFIǰǮ PrP
kuru CJD ǯ 9 CJD ǰ CJD ǯvariant CJD vCJDǰ
] a
ɗɎȟɛɪȺɯıȠǷĞĴdegɷ~Ĵdeg CJDɸɳOgUacuteɴǺǸǀdegɳPrP ǀ|uĭȞǓƷɴǺǹĢumldegɳɛɪȺɯȤȟTHORNǞțȔȟĢumlȞȮȱɴȞx=ȎȲȱɳƊǵ-1ɴǻ ɛɪȺɯıȟĴIJģȠǺV 100ȃȕȰǒȦȧɵȚȃȱ 2ǻȳȉkȟɂɲɝȶɩɯɅȞȇȌȱ
ınąȟǤȚȠǺ~Ĵdeg CJD 766ǺǀdegɛɪȺɯı 197ǺĢumldegɛɪȺɯı 35ȟǢȚȃȖȕǯjǵ-1ǰǻȳȉkȟĢumldegɛɪȺɯıȠ vCJD 1 3ȴǗȊǺȑȥș dCJD ȚȃȰǺdCJD ȠƻPȟƢicircȞȮȱplusmnűETHȴťƖȑȱț 149 Țȃȱɳ2015 2aacuteĥlɴǻXınȟż+ȟdivideƍȴƊǵ-2 Ȟņȑǻ
+ĘagraveaumlŨiumlocirceth ŎťŜņşŢŏ7(Ŧaumlecircecircecirc C ccedil garingatildeaumlegrave C aring gŧİĨŁĭYacute
śŠʼnŢ aringccedilecircecirc ĵ-UacuteYacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
Yacute
YacuteYacute
ȁŶďȂ ƱǺPrP ǀ| Y163X uĭȴȄǺaumlȞŽcurrenŇŢɱaeligograveŇŢǚȴordfțȏșĴIJȏǺyenȞƠŀIJȴ^ȏǺ1ƮŻfȞ PrP ȵɢɭȶɏĊĿȴƠȫȱ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟŝȉq_ȎȲȕɳMead S et al N Engl J Med 2013 3691904-1914 Matsuzono K et al Eur J Neurol 2013 20e67-69ȦȈɴ
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
) )
middotĘagravearingŨŘŕĵśŠʼnŢĵ-ĵtcedilŦAgravecurrenĶ-ĵfrac14AcircĵOslashŃ ŧ
13 ~Ĵdeg CJDɳsporadic CJDɴɶ OgUacuteȟĞĴdegȟɛɪȺɯıǻ~Ĵdeg CJD ȟ5n ȠǺƠŀucircŴǚǺƺGyƢǺƏƐĭŔȚĴIJǺȎȯȞnjƬɱnjvƬIJampǺɢȺȽɭɲɒɅȝȜȟŇŢśŇIJampȉmacrƵȞƸƈȏǺm 3ɹ4 ȈaacuteȚĚGdegĚƔȞǘȱǻOtildeȚǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n Ȭlȑȱǻı+ȟƾȄȠǺPrP ǀ|Ɂɏɯ 129wnțɛɭɌȵɲɇfrac34frac12degĭ PrPȟƾȄȞǓƷȏșȄȱǻƱǺɛɭɌȵɲɇȞugraveǼȝmicroUdegȴņȑĭ PrP ȴĞordfțȑȱǟ5n ȟŭɳVPSPrɴȬq_ȎȲșȄȱɳŶďQěɴǻ
13 ǀdegɛɪȺɯıɳgenetic prion diseasesɴ ǀdegɛɪȺɯıȠ PrP ǀ|ȟuĭȞƪgȏǺwETHȟuĭȉŀȯȲșȄȱǻǀcentȠiacuteƂdegǀȚȃȱȉǺǀĶĒƳģȉȋuĭȴacircȏșȄșȬĴIJȓȒǺżĶȞȠŝ6ȞĴIJűȉȄȝȄ
~Ĵ țȏșƠƣȎȲȱuĭȬȃȱǻuĭȟōǧȞȮȰǺĆƯĶƸƈȉŨbrvbarȚŸȞ PrP ȵɢɭȶɏOgraveȴacircȑȱȬȟɷGSSınɸǺCJDugraveȟżȭıĦȴņȑȬȟɷCJDnɳǀdegCJDɴɸǺſădegtimesdegľIJǯFFIǰǺȔȲvȞx=ȎȲȱǻƱǺ1Ʈdeg PrP ȵɢɭȶɏɲɃɅȟınȉq_ȎȲȕɳŶďQěɴǻ
13 ĢumldegɛɪȺɯıɳenvironmentally acquired prion diseasesɴɶ ĢumldegɛɪȺɯıȠǺɛɪȺɯȞTHORNǞȎȲȔȲȴĢumlȑȱȍțȞȮȖșĴIJȑȱǻȳȉkȚwĴȏșȄȱŃ
źŊoacuteyen CJDɳdCJDɴȠǺɛɪȺɯȞĈiacuteȎȲȕɗɎĪeacuteŃźȟŊoacuteȞȮȱǻuĭn CJD ǯvCJDǰǮ ȠǺȷɃȟɛɪȺɯıȚȃȱȷɃđŤğŸIJɳBSEɴȟɛɪȺɯȞĈiacuteȎȲȕǨcȈȯȟEumlȉŰȆȯȲșȄȱǻȳȉkȟ vCJD ȠƃkŁaumlĘlȞ BSE ɛɪȺɯȞĈiacuteȏșȄȱɪɅȽȟȃȱǨcȤȟTHORNǞĂȴacircȏșȄȕ 3ǻ
yacutearingthornYacute śŠʼnŢŃIJĠiquestīŀĢůYacute
jǵ-2 ȞƛOacuteȤȟƼŕȴņȑǻĥıĂțƛcedilƎȈȯɛɪȺɯıȟWŴdegȴĮȅȍțȉƛOacuteȟŒĀȚȃȱǻmacrƵƸƈdegȟƠŀIJȝȜȟŇŢɱśŇIJampȴņȑ CJD 5n vȞǺĆƯĶŨbrvbarȝƸƈȴņȑǟ5n ȉȃȰǺOgUacuteȟŇŢudegİplusmnȟƛOacuteȚȠɛɪȺɯıȴǎ=ƛOacuteȞ0ȲȱǻȎȯȞǺ
yumlńȝıĂɳtimesĂǺŊoacuteĂǺĔƀĂŔɴȟraquoEacuteǺocircicircɳŸĎǺMRIǺŸŵǬēɡɲȻɲǺPrP ǀ|ɴcedilƎȞȮȖșǺİplusmnȴǗvȏǺɛɪȺɯıȟınȴƛOacuteȑȱǻ ĥUcircęȚacircĩdegȉƜUacuteȎȲȕethccedilĶċijčȠȝȋǺIJĶɱIgraveAtildeĶȝċijȭȿȵǠȉLJƍȚȃȱǻ
ĥlǺPrPȟ|ıparaȴuacuteĶțȏȕċijčȉǑĴȚȃȱǻ ƟŠȠXınȟƛOacutețċijȟǡȴQěȎȲȕȄǻ
+ĘagravearingŨśŠʼnŢiquestaķĵIacuteiexclě
iumlocircetheumlYacuteiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĚograveugraveugraveeumlYacuteograveăďĐđĊyumlċċagraveugraveđďėĒĐĐĉăďagraveugraveāĆăćċĈăď ĚntildentildeoacuteeumlYacute ltcNsup3yNĚYacute Yacute
oslashuacuteagravedivideucircoacuteiuml eumlYacuteďăyumlĉagraveđćĊăYacuteĎĒyumlĈćċąagravećċĂĒāăĂYacuteāČċēăďĐćČċ ŦAśŠʼnŢmicroĵ1BĴĽŀUumlQFsŧ
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
yacuteaeligthornYacute śŠʼnŢĵOnotŤltc[Ěiquest[Yacute
ɛɪȺɯıȠĞİplusmnċijłŐotildeƥİplusmnȞAumlȎȲșȇȰǺJijƧDmiddotȴUȌȱȍțȉȚȊȱǻ
ǜısup2qɟɲɣɞɲɄɆɯɈɲȟ HP ȞȠǺJijƧDmiddotȴ]ȫǺƁȌRȢJijsectűȌsup2qȉCcedilưȎȲșȄȱ 4ǻ ɧɁɚıɂɠɲɎɓɊɎɮɲȽȟ HPȞplusmnűtimesIgraveEcircsup2qȉCcedilưȎȲșȄȱ 5ǻ łŐĤȠɛɪȺɯıȟɂɲɝȶɩɯɅŔȴƴȐșɛɪȺɯıȟƛijIgraveEcircȴƈȖșȄȱǻCJD ɂɲɝȶ
ɩɯɅdȴƴȐș CJDɂɲɝȶɩɯɅdȭNħEļȉȫȱXǃƼĽȟ CJDiquestiexclǐJŔȞȮȱIgraveEcircɳXōocircicircȴ]ȪɴȴUȌȱȍțȉȚȊȱ 6ǻȎȯȞplusmnűȭtimesȞȑȱlaquoĦǠȟIgraveEcircȬƈ
ȖșȄȱ 6ǻ ɛɪȺɯıȠŒ 5ǧmicroiacuteIJȞAumlȎȲșȇȰǺJȠƛOacuteyen 7Oslash6Ȟ$(cedilȞȌ9ȱȍțȉŮ
HȘȌȯȲșȄȱɳ9ňɶ
httpwwwmhlwgojpbunyakenkoukekkaku-kansenshou11pdf01-05-05pdfɴǻȝȇǺɛɪȺɯıȟyumlńȝƛOacuteǺĴħğČȟraquoEacuteǺmicroiacuteǕŖȞȠǺocircȞȮȱıĦocircicircȉLJƍȚȃȱǻɛɪȺɯıIJ
ȟocircƧĩȞȗȄșȠNħEļȭłŐĤȟIgraveEcircȉUȌȯȲǺȨȕǺplusmnű0ǖOumlƙȚɛɪȺɯıIJ
ȟocircȉȚȊȝȄrYȬǺɛɪȺɯıIJ ocircUȌ0ȲWŴȝOumlƙȞȗȄșłŐĤȞeȄYȳȓ
ȉWŴȚȃȱɳeȄYȳȓ-ɶɛɪȺɯıɂɲɝȶɩɯɅRȢmicroiacuteǕȞǓȑȱƢicircłŐĤHǮ
HPɶhttpprionuminjpindexhtmlɴǻ
- 1 Colby DW Prusiner SB Prions Cold Spring Harb Perspect Biol 2011 3 a006833 Review
2 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
3 Yamada M Variant CJD Working Group Creutzfeldt-Jakob Disease Surveillance Committee Japan The first
Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram Lancet 2006 367 874
4 ǜısup2qɆɯɈɲǮ ɟɲɣɞɲɄǯhttpwwwnanbyouorjpǰɶ
ɛɪȺɯı ǯDzǰǮ ȽɭȶɋəȸɫɎɱɧɁɚıɳCJDɴǯhttpwwwnanbyouorjpentry80ǰǺǯdzǰǮ ɀɫɅɎɡɯɱɅɎɭȶɅɩ
ɲ ɱ Ƀ ɦ ȶ ɯ Ȼ ɲ ı ǯGSSǰǮ ǯhttpwwwnanbyouorjpentry88ǰ Ǻ ǯǴǰǮ ſ ă deg times deg ľ IJ ɳ FFI ɴ
ǯhttpwwwnanbyouorjpentry51ǰ
5 ɧɁɚıɂɠɲɎɓɊɎɮɲȽǯhttpwwwcjdnetjpǰǮ
6 NħEʼnłŐƧƌDljǮ ǜċdegİplusmnatildełŐotildeǽɛɪȺɯıRȢƹĴdegȷȶɫɅmicroiacuteIJȞǓȑȱƢicircł
ŐĤǾɱǽɛɪȺɯıȟɂɲɝȶɩɯɅțmicroiacuteǕȞǓȑȱƢicircłŐĤǾǯhttpprionuminjpindexhtmlǰ
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
a
0
2 3 bull9NśŠʼnŢĶhij|ĵijğsup3yNOİĞĿĚCNtilde aumlatildeatilde Ĵ auml Fģīŀě Yacutebull eacuteatilde xĴ4ĥĚĴdľĢijĶijğěYacutebull iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ŦiumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀYacute ĂćĐăyumlĐăeumlYacute iumlocircethŧ-İĶMEacuteĴEumlparaīŀAacutevshyOacuteĴġĚordmraquoAĚgtmacrĚETHAringacircETH3AringĚŝʼnŋšťŗŏŃampĩĚ_ţgĴ
Nfrac12Ĵsup2ŀěYacute
bullmacr~ĵiNiN]OtildeŦčăďćČĂćāYacute ĐĕċāĆďČċČĒĐYacute ĂćĐāĆyumlďąăeumlYacute oumlugraveethŧĚUgraveIuml otildeoslashoacute W^HAtilde
THORNĂ楥ĒĐćČċYacute ĔăćąĆđăĂYacute ćĊyumląăeumlYacute ethuumloacuteszligYacute İĵ5macrAumlŤEoĵUumlĚmacrregUcircĵumlőŇmicroļ
aumlccedilagraveaeligagraveaelig microĵUumlģiquestaĵ laquoıijŀģĚtimes-ijplusmnDŃampīŀİĶplusmnDiquestaģ
Ocircij0$ĻĞŀěYacute
bull śŠʼnŢmicroŦčďćČċYacutečďČđăćċeumlYacuteoumlďoumlŧōŖŢ aumlaringecirc 4-ıśšœŅťŐUTN oumlďouml ĵŇňŏőŢŚšŒŕfrac14lsectmŃyenĹ$łĬĭUacuteģplusmnDbrvbarIgraveļSsup1ıĽĥ=LĩĚotildeotildeauml -ģfĻ-ijplusmnD
Ssup1ŃampīŀěYacute
Yacute
2 3 ɗɎȟ~ĴdegɛɪȺɯıȠ~Ĵdeg CJD8 VPSPr variably protease-sensitive prionopathy13 ȚȃȰǺ
acircFȝċijčȟȝȄſădegİplusmnȚȃȱǻ~Ĵdeg CJD ȠɗɎȟɛɪȺɯıȟŞ 8 AȴMȫǺPrP ǀ|ȞuĭȠȝȄǻǒ 100Ȟ 1ŌȉĴIJȏǺĴIJģȠ1ĬĶȞȦȧȏșȄȱǻwȋȠ 50āȚĴIJȏ 60āȚȟĴIJȉwȄȉǺ80āȚȟĴIJȬȩȯȲȱǻxǂȟIJ ȠĆƯĶmacrdegĴIJȏǺETHɰaacute6ȞĚGdegĚƔȞžȱǻ ǯWorld Health Organization WHOǰȟƛOacutepėȉĬĶȞĩȄȯȲɳƊǶ-1ɴ1 2ǺccedilǁȟƛOacutepėȬȍȲȞėAacuteȏșȄȱ 3ǻǟ5nĶȝżIJğ
ȴ^ȑȱIJ ȚȠżƛOacuteȉiǜȝrYȬȃȰ 4ǺńƛOacuteȞȠıĦĶocircşȉnotǣȚȃȱ 1-3ǻıĦ
ĶȞȠxŸķƩȭŦegraveȞŘȝđŤğuIțŇŢŠųŷƄǺȾɪȺɲɃɅǺPrPĊĿȉȩȯȲȱ 5ǻ ɛɭɌȵɲɇfrac34frac12deg PrP ȠȷȹɅɈɯɚɭɊɎƒeumlȞȮȰ 1 nț 2 nȞȌȯȲȱǻPrP ǀ|Ɂɏɯ
129wnɳɤɉȺɑɯȴɟɥȚAtildeȗ MMnǺɕɪɯȴɜɌɭȚAtildeȗ MVnǺɕɪɯȴɟɥȚAtildeȗ VVnɴțȟšȩYȳȓȞȮȰ~Ĵdeg CJD Ƞ MM1ǺMM2ǺMV1ǺMV2ǺVV1ǺVV2 ȟ 6 nȞǧȎȲǺMM2nȠżıĦcedilƎȞȮȰ MM2-ķƩnț MM2-ƏnȞȌȯȲȱɳƊǶ-2ɴ6ǻMM1 nȉagraveȬǤȉǭȋǺMV1nț3Ȟ5nĶȝ CJD ȟżŢƻțıĦcedilƎȴ^ȑȱ 5 6ǻMM2-ķƩnȠƠŀIJȴțȑȱŨbrvbarƸƈdegȟŢƻȴ^ȏǺMM2-ƏnȠƏudegIJȭ~ĴdegſădegľIJțaȡȲȱŋȝ13nȞshyȑȱǻMV2nȠyƢIJğȚĴIJȏŨbrvbarȝŢƻȴ^ȑȱǻccedilǁȚȠVV2nȠoumlȫșŋȚȃȰǺVV1nȟq_ȠȝȄ 5 7ǻVPSPr 7 70 ~Ĵdeg CJD ȟżŢƻȠ 3aumlȞȌȯȲǺŒ 1aumlȞȠregmicroǺȣȯȗȊǺȫȨȄǺĐGdegȟǺ
ƏƐĭǺfrac14ȅȗ)ŔȟǟĞĭĶIJğȉȩȯȲǺŒ 2 aumlȞȠƠŀucircŴǚȉmacrƵȞƸƈȏǺnjƬnjvƬIJğǺɢȺȽɭɲɒɅȉ9ĥȑȱǻŇŢĶcedilƎȚȠŹSȟƸǺıĶSȟ9ĥǺŸyƢǺŕ ǺɄɅɎɑȵǺfrac34frac12IJǺǫacuteSshyŔȉƠȫȯȲȱǻŒ 3 aumlȞȠĚGdegĚƔțȝȰǺǗķƩŃĺȭszligAgraveŪŲȴ^ȑȱǻccedilǁȚȠŞKETHȉ 1 ħȑȱȉǺĚGdegĚƔȞžȱȨȚȟŢƻȞthornŚ țȟȠȝȋǺŢŗiumlǩȭĆƯĶŏoumlĶȞƈȳȲȱIJijčȞȮȰĚGdegĚƔȚǏauml
bȑȱțŰȆȯȲșȄȱ 8 9ǻ
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
)
middotęagraveaumlaacuteYacute 9N iumlďăĒđĖĄăĉĂđagraveocircyumlĈČĀ ĵiquesta
I secteacuteȈȯĩȄȯȲșȄȱƛOacutepėɳMasters ȯ 1ɴ
A ń ɳdefiniteɴ ĞordfĶȝıĦcedilƎǺȨȕȠȷȹɅɈɯɚɭɊɎȭįiacuteƂčȚŸȞĭɛɪȺɯƇĵȴocirc9ǻ
B Ȧȧń ɳprobableɴ ıĦcedilƎȠȝȄȉǺȟ 1-3 ȴĕȕȑǻ 1 macrƵƸƈdegƠŀIJ 2 yacuteȟ 4ǡĹ 2ǡĹȴĕȕȑǻ
a ɢȺȽɭɲɒɅ b ƏƐȨȕȠŸIJğ c njƬȨȕȠnjvƬIJğ d ĚGdegĚƔ
3 ŸĎȚ`aumldegZaumldegIcircǝɳPSDɴȴƠȫȱǻ
C ĮȄ ɳpossibleɴ Ƙȟ Bȟ 1RȢ 2 ȴĕȕȑȉǺŸĎ PSD ȴuumlȋrYǻ
II AcircxƛOacutepėɳWHO 2ɴ
ƘȟƛOacutepėȟ CȟĮȄ ɳpossibleɴȞ0ȱ ȚǺŸĎ PSDȉȝȋșȬǺŸŵǬēȞ 14-3-3Ƈĵȉocirc9ȎȲżŢƻȉ 2aringĕȟrYǺȦȧń ɳprobableɴțȑȱǻ
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
13
sCcedilntildeV7 centiquestacuteAcircAacuteAEligmicroacuteordmsup3Aacuteyendegsup1frac12plusmn SOtilde M5
sectsect sectshy sectsectY sectsectu sectshy shyshy shyshy
ordfiquestordf amp
sup2frac12sup3frac12frac14 sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm sectacuteAacutesectacuteAacute sectacuteAacutesectacuteAacute sectacuteAacuteshydegordm shydegordmshydegordm shydegordmshydegordm
ordfiquestordf notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute notAringfrac34acute
Otilde Egraveeacuteaacuteacircigraveicircaeligauml Egrave
currenacutecedilsup3acutefrac14middotdegcedilfrac14 umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
u7T
iumlV7nE7[TethbrvbarAcirciquestAcirc lt umlfrac12AacuteacuteAgraveAacutedegplusmnordmcedilAgravemiddotacutesup3
y Egrave
iexcliquestfrac12Aumlfrac14Aumlacuteordmordmcopyfrac34frac34acutefrac14middotacutecedilraquoacuteiquest
1
Ddiumleth
iumleth iumlsectsect Otilde szligUgraveeth iumlsectsectYu Otilde szligUgraveeth
m9t
VT- iumleth iumleth iumleth iumleth iumleth iumleth iumleth
giuml=eth iumleth iumleth iumleth iumleth iumleth iumleth iumleth
mT XOacute centyenpound OtildegEgrave6~r7Otildex]TEgrave
uvTN~r7x]T
[Egravee_XIEgrave
yEgravex]T
~r7Otildex]TNtildeyEgrave
gtg
F|Xo-VTEgrave
~r7x]TyTNETHVTEgravex]TOuml4OcircQ
eacuteaacuteacircigraveicircaeligaumlOtilde
QOiumleth
ordflaquopound OtildeQOiumleth
lkKOtilde
qW7 7 7 7 ETH7 7 7
SR(X9t
_gSR9t XOacuteJhNEgrave
SOumlEumltimesEumltimes4pOcirc3Eacute13
$ ETHUIgraveYacutebjEgrave
lOumlIacuteTHORNYacute
uNtildeaacuteeumlicircccedilBOtilde1)Egrave
$lYEgrave0BEgrave
lSOumlOslashNtildeagraveOgraveOacuteEacute
shyshy NtildeEgrave
lOcirc brvbarAcirciquestAcirc P
$lYNtildeiOtilde)Ecirc3EacuteEgrave
lEgravelOumlIacuteTHORNYacute
lOacuteOgraveYzBOtilde)Ecirc3EacuteEgrave
JhNOumlYLOcirc+
ordfiquestordf G atildearingegraveauml bjOtildeGOslashNtildeagraveOgraveOacuteEacute
iuml2Eacuteatildearingegraveauml eth
shyshy NtildeIgraveYacuteEcircegraveecircicircacirc Egrave
+9XGEcircZcIcircCUacuteIuml2Eacuteatildearingegraveauml
egraveecircicircacirc Egrave+9XGEgrave
_gfj
ordfdegiquestsup2middotcedilacuteAacutedegordmregmacrUcircUuml
sectacuteAacute raquoacuteAacutemiddotcedilfrac12frac14cedilfrac14acuteEgraveshydegordm Atildedegordmcedilfrac14acuteEgraveordflaquopound lHOtildegt7gt7iumlfrac34acuteiquestcedilfrac12sup3cedilsup2AgraveAringfrac14sup2middotiquestfrac12frac14frac12AcircAgravesup3cedilAgravesup2middotdegiquestparaacuteethEgraveordfiquestordf egraveeumlaacuteiacuteqWiumlfrac34iquestcedilfrac12frac14frac34iquestfrac12Aacuteacutecedilfrac14eth
8]`$(`(^a9OtildeV7 centyenpound OtildewAiumlregmacrUcircUumleth
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
1 Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
2 WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
3 ǠnHȁǗOtildeǯĤszligȧȊȟƐοˆǶĢͱͰαĬƄDZʟƅȊȟǝοͺγͰΌΜͲαΏηΫΝǰʒǵΥΒά
ακŖʌǔλο2002
4 Iwasaki Y Mimuro M Yoshida M Sobue G Hashizume Y Clinical diagnosis of Creutzfeldt-Jakob disease
Accuracy based on analysis of autopsy-confirmed cases J Neurol Sci 2009 277119-123
5 Iwasaki Y Yoshida M Hashizume Y Kitamoto T Sobue G Clinicopathologic characteristics of sporadic Japanese
Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type Acta
Neuropathol 2006 112 561-571
6 Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
7 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
8 Iwasaki Y Mimuro M Yoshida M Kitamoto T Hashizume Y Survival to akinetic mutism state in Japanese cases of
MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians Eur J Neurol 2011 18 999-1002
9 Iwasaki Y Akagi A Mimuro M Kitamoto T Yoshida M Factors influencing the survival period in Japanese
patients with sporadic Creutzfeldt-Jakob disease J Neurol Sci 2015 357 63-68
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
8
bullqĔɈɔȨəċȎŠfrac14ȉȏʼnČucircɚĶŴȍ7DzǪUgraveOgraveeumlȊǽȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveǵEacuteăȉǯȞǫƛ
bullqĔɈɔȨəċȎŠfrac14aocircȏ džƷƾ ȎŠfrac14aocirc ƦơƛƧǵŌĖȍ3ăǻȟȈǰȞǫƛ
bullą$UgraveOgraveȉȏƏŸ ƼǁƸ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞƛ ǵEacuteăȉǯȞǫƛbullņŅƗethUgraveOgraveȉȏņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊĹȷȥŒĕǵEacuteăȉǯȝǪƦƩƢƨƢƨ ŒĕȎUgraveǵɈɔȨəċŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullņigraveUgraveOgraveȉȏUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛƿǂƳɝǵuacuteĖ řȉǯȝǪɈɔȨəċȎŠfrac14aocircȎȇȊȌȆȈǰȞǫƛ
bullqĔɈɔȨəċȎLċ_ɚĻċEumlƀȍțȆȈą$UgraveOgraveɚņŅƗethUgraveOgraveɚņigraveUgraveOgraveȎȏĈȌȞǹȊȍiacuteǿȞǫȖȃǪqĔɈɔȨəċȍƓǽȃħĶĊǵǯȝǪż2ǵŻŘȉǯȞǫƛ
ETHǶĢΞΰ͵εǰUmiddotUmiddot7MM1MV1˻Umiddot7κMM2-ǺʬmiddotMM2-ʅ
ĀmiddotMV2VV1VV2λ Creutzfeldt-Jakob ǰκCreutzfeldt-Jakob disease CJDλ[ɻ
-23ŤŹeƏ7ETHǶĢΞΰ͵εǰΝΈͰΞƧǛȐκreg-1λUmiddot7˻Umiddot7ɢĀDZǘηɢĀȷˈηƏƅκǧIηɛɚƽηɛƲλĬăǪʒŠ˱ǩī
ǥƢƦɟAacuteIacuteȎ4UgraveȍdzǸȞqĔɈɔȨəċȎȰɇȷȤɈaringyumlƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
ƛ
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ɜƦɝƛ ʼnČucircƛ
ŤŹETHǶĢΞΰ͵εǰɢĀIȐ 4-6ɢĀIɈǰŶˣΞΰ͵εǰΈͰΞ
Ǫ 4 13 Umiddot7κMM1MV1λ
Umiddot7˅ɹĢʙȉƗə˲UgravekΦ͵ͺγθΓƒ˽˲UgraveatildeɛAEligʟƟɹ˲Ugrave5
ȯ 3-7 ζŲțăǑpǑʋɤ 3 4ɛƲ PSD
13 ˻Umiddot7κMM2-ǺʬmiddotMM2-ʅĀmiddotVV1VV2λ MM2-ǺʬmiddotυMM2-ǺʬmiddotAEligɹAEligʚƚƗə˲UgraveĺDZǘȬȓDZǘ
Atildeɂē˅ɹĢȷˈȐ 3 7 8ȯ 1-2yacutețăƟɹ˲UgraveǑpǑʋɤɈǰŶˣ 247 ζŲƑ˟
MM2-ʅĀmiddotυMM2-ʅĀmiddot 3 9 10ȅɣđȓȷ˲UgraveʙȉƗə˲UgraveȬȓDZǘȐ
AtildeɈǰŶˣ 185 ζŲ˟ǑpǑʋɤDZ7 κVV1VV2λυVV1frac12Țɂē˅ɹĢdFmiddotʙȉDZDZǘ
˚1ʱĘBΦ͵ͺγθΓVV2AEligʟĢƟɹġˁ˅ɹĢʙȉDZΦ͵ͺγθΓ 13ƙɛƲ PSD
ɜƧɝƛ UgraveOgraveeumlɜą$UgraveOgraveǪņŅƗethUgraveOgraveǪņigraveUgraveOgraveɝƛ
ETHǶĢΞΰ͵εǰƏƅƱǧIƏƅɛɚƽƏƅɛƲƏƅńETHǶĢ CJD
ΈͰΞƏƅĬăǪƳī 13 ǧIƏƅˏ MRI DWIʒŠųǡreg-211-14ɻȐŻƔdžt DWIʒ
Šə FLAIRǧI 15ǧIĴʃȐǯĤǯĤ˞_
˔ʂ 16
DWIAumlɛǺʬκˀuacuteʀśĴλordmāƇκǗɀŻ1dyˏλǪuacute
Atilde 14
ǥƢƧɟ)- 1 2 )3 ƛ
)- 1 V UV b S 1 V RT b S RV
PJacM Q a )- W 1 V b S W b SME PJac W 1
V b S W b S UV b S W )- PJac
2 )3 M WI
ƛ
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
13 ɛɚƽƏƅ 14-3-3 ɷǸɾlǹʒŠordmdž˾ǽk 2CJD ĤɎ
ɛɚƽ 14-3-3ɷǸȿΈͱɷǸʒŠųo 17-23ɈǰŶˣ 18 CJDΝΈͰΞ 1914-3-3 ɷǸȿΈͱɷǸĬăǪCJD AcircǯĤ 14-3-3 ɷǸȿΈͱɷǸˮĢȐ 22 23ǪuacutemiddotΞΰ͵εɷǸĬăiquestucircƱCJDĤɎɛɚƽ
ǪuacutemiddotΞΰ͵εɷǸƏZIJj 24 25ʒŠųoĢȐκɻ-3λ
ŗǥƢƨɟqĔɈɔȨəċȍdzǸȞņŅƗethȎ ƦƩƢƨƢƨ ŒĕȊ ǁǃƢǀDŽƸƲ eumlȍțȞƛĈ_ɈɔȨəŒĕȎƃyumlȎUgraveş
ƛ ƛnotĴĖUgraveşƛ ĤšĖUgraveşƛ ĹŞƛ
ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ ǁǃƢǀǞƸƲƛ ƛ ƦƩƢƨƢƨ Œĕƛ
qĔɈɔȨəċĽsup1ƛ
Ugraveşsup1ƛƛ ƪƦƤƪƫƛ ƛ ƪƧƤƪƫƛ ƛ ƪƭƤƫƬƛ ƛ ƫƩƤƫƬƛ ƦƥƮƤƦƧƨƛ ƦƦƫƤƦƧƨƛ
ȯəȻɗɛɕƛ ƛ ƦƤƪƧƛ ƛ ƧƨƤƪƧƛ ƛ ƥƤƪƦƛ ƛ ƦƨƤƪƦƛ ƛ ƦƤƦƥƨƛ ƛ ƨƫƤƦƥƨƛ
ƛ
MŞƛ ƮƦƜƛ ƮƨƜƛ ƭƬƜƛ ƮƫƜƛ ƭƮƜƛ ƮƩƜƛ
ƼƼƛ ƮƥƜƛ ƮƬƜƛ ƮƥƜƛ ƮƨƜƛ ƮƥƜƛ ƮƪƜƛ
ƼDžƛ ƭƭƜƛ ƭƧƜƛ ƭƭƜƛ ƦƥƥƜƛ ƭƭƜƛ ƮƪƜƛ
DžDžƛ ƦƥƥƜƛ ƦƥƥƜƛ ƮƧƜƛ ƦƥƥƜƛ ƮƪƜƛ ƦƥƥƜƛ
uacuteĈƛ ƮƭƜƛ ƪƫƜƛ ƦƥƥƜƛ ƬƪƜƛ ƮƮƜƛ ƫƪƜƛ
13 ɛƲƏƅ Steinhoff 26ɛƲ PSDʔordmdžȐǶDZťŶ 45 ˮĢȐȷˈ 90 ˮĢȐfrac12PSD ZǞǛ CJD ΝΈͰΞɈǰˣŶˣ
Ǫ
ɜƨɝƛ Šfrac14aocircƛ
WHOʒŠordmdž 2κɻ-1λήθγΘʒŠordmdžκɻ-4λȐ 11ǞplusmnŤŹ CJDθΠͰίε WHO ʒŠordmdžņǡκɻ-1λκǧIƏƅɛɚƽƏƅƏƅƔ
džtɹ 27-29λ
ŗǥƢƩɟɒɛɗȹɂɜƴǞǛǘƲƹƳɝȍdzǸȞqĔ ƲƹƳ ȎŠfrac14aocircƛ ƝLjǏǛǛƛǏǝƛNjǕƛƦƦƞƛ
1 ġˁ˅ɹĢʙȉƗə˲Ugrave 2 ɢĀDZǘ
A Φ͵ͺγθΓ B ʅʆǪuacuteatildeɛAEligʟ C ˚1ʱ˲Ugrave˚1Acircʱ˲Ugrave D ǑpǑʋ
3 ɛƲŶĢŶĢŗ˷κPSDλȐ 4 MRIŀřĉʟǧIκDWIλ FLAIRǧIaeligǘƇηɼƦʙ
definite CJD ɛȶɅ CJDǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZETHǶĢ CJD ɥǰǟIł probable CJD ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ0 2˾ǽˮĢȐauml 1˾ǽȐ possible CJD 2˾ǽˮĢȐQɢĀȷˈ 2yacuteŸDŽ μ ήθγΘκEuroCJDλETHǶĢ CJDʒŠordmdžMRIƏƅŀřĉʟǧIκDWIλ FLAIRǧIɢĀƏƅ˾ǽʒŠordmdžǧIƔdžtŔIŢƱʄOtilde
ήθγΘκEuroCJDλordmdžɛɚƽ 14-3-3ɷǸ˩ μμ ήθγΘκEuroCJDλǧIʒŠŮOtildeordmdž MRI ŀřĉʟǧIκDWIλ FLAIR ǧIaeligǘƇηɼƦAumlɛǺʬsup1 2 ζĴʙ
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ) -
ɜƩɝƛ Ccedilȍƛ
űʻǧIƏƅηɛɚƽƏƅΞΰ͵εǰ˞_ǯĤIumlplusmnŧ˞
_ǯĤƖŹɛDZ˓ȱɛDZLewy atilde1middotʙȉDZʥǪuacuteDZɣotildeNǭĢɛǎńɢĀĘBȷˈƏƅĴʃȥǩī 16 30-36κreg-3λ
Masters CL Harris JO Gajdusek DC Gibbs CJ Jr Bernoulli C Asher DM Creutzfeldt-Jakob disease patterns of
worldwide occurrence and the significance of familial and sporadic clustering Ann Neurol 1979 5 177-188
WHO WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease World Health
Organization Geneva 1998
Parchi P Giese A Capellari S Brown P Schulz-Schaeffer W Windl O et al Classification of sporadic
Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects Ann Neurol 1999 46
224-233
Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
Krasnianski A Kaune J Jung K Kretzschmar HA Zerr I First symptom and initial diagnosis in sporadic CJD
patients in Germany J Neurol 2014 261 1811-1817
Krasnianski A Bohling GT Harden M Zerr I Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob
disease in Germany J Clin Psychiatry 2015 76 1209-1215
Hamaguchi T Kitamoto T Sato T Mizusawa H Nakamura Y Noguchi M et al Clinical diagnosis of MM2-type
sporadic Creutzfeldt-Jakob disease Neurology 2005 64 643-648
Krasnianski A Meissner B Schulz-Schaeffer W Kallenberg K Bartl M Heinemann U et al Clinical features and
diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease Arch Neurol 2006 63 876-880
Parchi P Capellari S Chin S Schwarz HB Schecter NP Butts JD et al A subtype of sporadic prion disease
mimicking fatal familial insomnia Neurology 1999 52 1757-1763
Moda F Suardi S Di Fede G Indaco A Limido L Vimercati C et al MM2-thalamic Creutzfeldt-Jakob Disease
neuropathological biochemical and transmission studies identify a distinctive prion strain Brain Pathol 2012 22
662-669
Zerr I Kallenberg K Summers DM Romero C et al Updated clinical diagnostic criteria for sporadic
Creutzfeldt-Jakob disease Brain 132 2659-68 2009
Shiga Y Miyazawa K Sato S Fukushima R Shibuya S Sato Y et al Diffusion-weighted MRI abnormalities as an
early diagnostic marker for Creutzfeldt-Jakob disease Neurology 2004 63 443-449
Meissner B Kallenberg K Sanchez-Juan P Collie D Summers DM Almonti S et al MRI lesion profiles in
sporadic Creutzfeldt-Jakob disease Neurology 2009 72 1994-2001
Caobelli F Cobelli M Pizzocaro C Pavia M Magnaldi S Guerra UP The role of neuroimaging in evaluating
patients affected by Creutzfeldt-Jakob disease a systematic review of the literature J Neuroimaging 2015 25 2-13
Fujita K Harada M Sasaki M Yuasa T Sakai K Hamaguchi T Sanjo N Shiga Y Satoh K Atarashi R Shirabe S
Nagata K Maeda T Murayama S Izumi Y Kaji R Yamada M Mizusawa H Multicentre multiobserver study of
diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob
disease a reliability and agreement study BMJ Open 2012 2 e000649
źžCIcirc Ǎ˕Ĝc ǸɶƱIcirc žƪūIcirc ntildeƞˉ ȫǢ ʛ Periodic synchronous discharge
Creutzfeldt-Jakobǰ˞_ʂƖŹɛDZ 17 ɢĀȓȷNtilde 2013 53 716-720
Satoh K Shirabe S Eguchi H Tsujino A Eguchi K Satoh A et al 14-3-3 protein total tau and phosphorylated tau
in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan Cell Mol
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
Neurobiol 2006 26 45-52
Zerr I Bodemer M Gefeller O Otto M Poser S Wiltfang J et al Detection of 14-3-3 protein in the cerebrospinal
fluid supports the diagnosis of Creutzfeldt-Jakob disease Ann Neurol 1998 43 32-40
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Sanchez-Juan P Green A Ladogana A Cuadrado-Corrales N Saacuteanchez-Valle R Mitrovaacutea E et al CSF tests in the
differential diagnosis of Creutzfeldt-Jakob disease Neurology 2006 67 637-643
Satoh K Shirabe S Tsujino A Eguchi H Motomura M Honda H et al Total tau protein in cerebrospinal fluid and
diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease Dement Geriatr Cogn Disord
2007 24207-212
Stoeck K Sanchez-Juan P Gawinecka J Green A Ladogana A Pocchiari M et al Cerebrospinal fluid biomarker
supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias a longitudinal multicentre study over 10
years Brain 2012 135 3051-3061
Coulthart MB Jansen GH Olsen E Godal DL Connolly T Choi BC et al Diagnostic accuracy of cerebrospinal
fluid protein markers for sporadic Creutzfeldt-Jakob disease in Canada a 6-year prospective study BMC Neurol
2011 10 133
Atarashi R Satoh K Sano K Fuse T Yamaguchi N Ishibashi D et al Ultrasensitive human prion detection in
cerebrospinal fluid by real-time quaking-induced conversion Nat Med 2011 17 175-178
Peden AH McGuire LI Appleford NE Mallinson G Wilham JM Orruacute CD et al Sensitive and specific detection of
sporadic Creutzfeldt-Jakob disease brain prion protein using real-time quaking-induced conversion J Gen Virol
2011 93 438-449
Steinhoff BJ Racker S Herrendorf G Poser S Grosche S Zerr I Kretzschmar H et al Accuracy and reliability of
periodic sharp wave complexes in Creutzfeldt-Jakob disease Arch Neurol 1996 53 162-166
Fujita K Yuasa T Takahashi Y Tanaka K Iwasaki Y Matsui N et al Differentiation between anti-NMDAR
antibody-positive Creutzfeldt-Jakob disease and immune-mediated encephalitis Clin Exp Neuroimmunol 2014 5
246
Cramm M Schmitz M Karch A Mitrova E Kuhn F Schroeder B et al Stability and reproducibility underscore
utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease Mol Neurobiol 2016 53 1896-18904
Schmitz M Ebert E Stoeck K Karch A Collins S Calero M et al Validation of 14-3-3 protein as a marker in
sporadic Creutzfeldt-Jakob disease diagnostic Mol Neurobiol 2016 53 2189-2199
0˕Ą Ʃ˕ʣO ˟ethiexclş raquoVˮ 13eacuteK Ȗecirc et al CJD ˞_ʂɸȭɛDZ7
ɢĀȓȷNtilde 2015 55 285
Ƙigraveˎ ǢJ źĎOcirc Ɓ Ȓ ŷźŭAring gt j et al Creutzfeldt-JakobǰɢĀȷˈ
Ȑ Basedowǰ+ƖŹɛDZ 17 BRAIN NERVE 2008 60559-565
Aumliuml ǟ EcircntildeȰIcirc ȳntildeģIcirc ɶAumlƕ ƍ ˅ɶMˎ ͺγͰΌΜͲαΏΫΝǰCJD˞_Ħ
ĢΰεΘɝordfġĢɛǎ7 ɢĀȓȷNtilde 2015 55 210
ƲAtilde˕ŚIcirc ɶƞŧ Nj`Ĉ ȷˈ Creutzfeldt-JakobǰDZBγͰΐųo
ɣotildeNǭĢʹɃȮɛǎ 70ơǥĢ7 ȓȷVȗ 2014 81 216-220
ɶǢƸ ǃƶČ Ɩthorn` ǢĩIcirc eumlicirc ˺ žaringIcirc et al ļ NMDA Ucirc1ļ1ˮĢ
Creutzfeldt-JakobǰNǭˤ˃ɛǎ˞_ ȓȷNǭNtilde 2013 18 109
KUumlɉ ȢVŬIcirc sup2 ˊ ɪcedilǀȔ $sup2 ɏ 0rİ et al ^ŶƖŹɛDZ˞_not˶
CJD 17 ɢĀȓȷNtilde 2007 47 196
ȫǢ ʛ ƖŹɛDZ [IcircȬȓwNtilde 2013 13178-184
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ƛ
bullŶɈɔȨəċȊȏǪɈɔȨəŒĕɜǙǛǓǘǗƛ ǙǛǘǝǏǓǗƯƛ ƿǛƿɝȡȯɛȼǿȞɈɔȨəŒĕŶnȎfĈȍțȝĂǾȞɈɔȨəċȉǪȌʼnČȍțȝqĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ
ǎǓǜǏNjǜǏƯƛ ƲƹƳɝȍƓȎČȡSǿȞŶ ƲƹƳǪŅƗ|ņfČȚčzƙďȌȋȍƓǽ
ĶŴǵsup1ȊŽǰ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċ ɜ ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ
ƶǂǂɝǪŚ_qĔ ƲƹƳ ȍȈĝȌȋŊħĶČucircǵĘįȇŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛ
ǐNjǖǓǕǓNjǕƛ ǓǗǜǘǖǗǓNjƯƛ ƵƵƸƞǪȂȎȍi2ǻȟȞǫIgravetimesħĶƄwȡĥǿfĈșǯȝʼnȲɊȬȻɓɍȏ
ƊȍccedilȉǯȞǫƛ
bullhsup1ȎŶnfĈǵĠȜȟȈǰȞǵǪAacuteIacuteȉȏ DžƦƭƥƸǪƼƧƨƧǁǪƴƧƥƥƺǪƿƦƥƧƻ ȉigtȡȘȞǫƛbullȒȇDZȏǪNtildeōŶȉǯȞǵǪDžƦƭƥƸǪƼƧƨƧǁ ȏȔȊȢȋxAgraveĔČǵȌǷqĔ ƲƹƳ
ȊǽȈĔČǿȞȃȘŶnUgraveOgraveȡǽȌǸȟȐŠfrac14ȏȇǴȌǰǫƛ
bullŶɈɔȨəċșNtildeȏǯȞȃȘǪqĔ ƲƹƳ ȊNUumlȌiacuteǵŘȉǯȞǫ
ˌĢΞΰ͵εǰƞuacutemiddot PrPκcellular prion protein PrPCλθΐ PrPˌIcircAacuteǪ
ǠΞΰ͵εǰɢĀDZBETHǶĢ CJD DZBˌĢ CJDɚatildeɛAacuteĢDZDzĢszligǴȷˈśyacute˟ GSSʅĀmiddotETHǶĢ CJD ȅɣđ
ȓȷDZǘǽȠ FFIAuml_κɻ-1λɢĀǰmiddotordfˌIcircAacuteǪǞplusmn 30ȜǏAacuteǪΐε 51 91 8ΦΕ˓ɆʼκΰΛθΏλˏ- 15ȜƙAEligηŅPfrac12 1-3κreg-1λăƓȜǪ 4ŹˍˌĢ
CJDV180Iκΐε 180ΗΰεͰγͰεɇŋλM232RκΨΊ͵ΒεαΒελE200KκͻαΈΦε˓ΰελ GSS P102LκΞγΰεͰγͰελAumlˏ[~κreg
-2λΐε 129 AtildemiddotΨΊ͵ΒεMAtildeβαAacuteǪAtildeΗΰεVβαAacuteǪǠɢĀIAumlAacuteƳīĚʂ7
D178N-129M FFIǰIȐD178N-129V CJD
ˌċĆuacuteƄɩ1JĢˌċĆƻʿǛAacuteǪȜǪŤŹ
ă V180I M232R UacuteţVǶDZɎldquoETHǶĢrdquoǶDZ
ˌIcircAacuteǪǪɢĀηǰǟIETHǶ7Q7ˌIcircƏƅɹ
ŵ
ŗǦƢƦɟŶɈɔȨəċȎʼnċ_ȊȂȎCYȊȌȞȌŶnfĈƛ
ƝƦƞƛ Ŷ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċƛ ƝǑǏǗǏǝǓǍƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǑƲƹƳƞƛ
ǁƦƩƭƷơƛǀƦƫƥǜǝǘǙơƛƳƦƬƭƽƢƦƧƮDžơƛDžƦƭƥƸơƛǃƦƭƨươƛǃƦƭƭươƛǃƦƮƨƸơƛƴƦƮƫƺơƛƴƧƥƥƺƢƦƧƮƼơƛƴƧƥƥƺƢƦƧƮDžơƛDžƧƥƨƸơƛ
ǁƧƥƭƷơƛDžƧƦƥƸơƛƴƧƦƦǀơƛƼƧƨƧǁơƛƲǘǎǘǗƪƦƢƮƦƛǓǗǜƛ
ƝƧƞƛƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċƛ ƝƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƛǎǓǜǏNjǜǏƯƛƶǂǂƞƛ
ƿƦƥƧƻơƛƿƦƥƪƻơƛƶƦƦƩDžơƛưƦƦƬDžơƛƶƦƨƦDžơƛƼƦƭƬǁơƛƷƦƭƬǁơƛƵƦƮƭǂơƛƳƧƥƧƽơƛǀƧƦƧƿơƛǀƧƦƬǁơƛƲǘǎǘǗƪƦƢƮƦǓǗǜƛ
Ɲƨƞƛ ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ƛ
ƳƦƬƭƽƢƦƧƮƼƛ
ƝƩƞƛ ȂȎƛ ƛ
LJƦƩƪǜǝǘǙƛƝţĠČƞơƛƧnjǙƢǎǏǕƛNjǝƛƦƬƭljƦƮƪǜǝǘǙNJƛƝśŊħĶȾɐɛɗɂȸɛƞƛƪ
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ɟȠǵ]Ȋagrave~ȉȎŶɈɔȨəċȎŶnfĈȎƐƛ
ƛ
ǦƢƧɟɈɔȨəŒĕȎȱȦɛɋȊŶnh_ȌȜȑȍȌċĖfĈƛ
frac34ǵaacuteh_Ǫfrac34ǵȌċĖfĈȡĥǽjoǵȠǵ]ȍhǰfĈǫƛ
ɜƦɝƛ DžƦƭƥƸ fĈ ƲƹƳƛ
uumlacuteǶDZyacuteȯ 77ơʐ˙i˲UgraveAEligʚAEligɹƚɛƗə˲UgraveǶDZAtildeɂē˅ɹĢ^ŶΦ͵ͺγθΓatildeɛAEligʟʅʆ˲Ugrave
AlzheimerǰʜʒƳīĚʂ 6
ƛ ƛ
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 - -
ɜƧɝƛ ƿƦƥƧƻ fĈ ƶǂǂƛ
ǶDZyacuteuumlacute 55 ơȯ 90Ɵɹ˲UgraveatildeɛDZǘǶDZ 2-3 yacuteˣ˅ɹĒʙȉDZΦ͵ͺγθΓkAtildeű^ɚatildeɛAacuteĢDZʜʒ 7ɔǪuacuteĬʆ
ɞaacuteǰǹaacuteƧʶǹťŶʙŪ CJDƓDZBȐ7
ƻʿǛatildeɛAEligʟDZʙȉDZUacuteţƢɑǬłˌIcircƏƅ
ʒŠĚʂuumlacuteɈǰŶˣ 4-5 yacute˟^ŶʙȉDZʒŠĒęǟǹ
ΜʹγθΞAumlΞΰ͵εǰθΠͰίεĬƄ˥ˤʟƅȊȟǝˌ
Ͷͱε΅ΰεͻě
ƩNjɮƴκɁ˵λυΞΰ͵εǰˆǶĢͱͰαĬƄDZ ǠnHȁ˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰ
ˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ˗ZǔŽ2010
Mead S Prion disease genetics Eur J Hum Genet 2006 14 273-281
Mastrianni JA The genetics of prion diseases Genet Med 2010 12 187-195
Kovacs GG Puopolo M Ladogana A Pocchiari M Budka H van Duijn C et al Genetic prion disease the
EUROCJD experience Hum Genet 2005 118 166-174
Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et la A novel familial prion disease causing
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20 e67-e69
Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4 e004968
Higuma m Sanjyo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological
features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8
e60003
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
8
bullŶɈɔȨəċȏŶ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċ ɜ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ ƲƹƳ ɝ Ǫ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛ ƶǂǂɝǪŋatildexAgrave
ĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ ȍƓǻȟȞǫƛ
bullIacuteŷȎŶɈɔȨəċȉȏxAgraveacircǵȌǰȷȤɈǵhǰȎȉŠfrac14ȍȏŶnUgraveĴǵƍȉǯȝǪLfĈȎƐȏ DžƦƭƥƸǪƿƦƥƧƻǪƴƧƥƥƺǪƼƧƨƧǁǪƳƦƬƭƽ Ȏƌȍhǰǫƛ
bull DžƦƭƥƸ Ț ƴƧƥƥƺ ȉȏƏŸ ƼǁƸƛ umlcedilŦą$ƝǎǓǐǐǞǜǓǘǗƛǠǏǓǑǒǝǏǎƛǓǖNjǑǏƯƛƳdžƸƞȉǪiņėŪȚaOcircȍƘKfȡţȘȞǹȊǵhǷǪƿƦƥƧƻ Ț ƴƧƥƥƺ ȉȏxAgraveacircȡQȘȃiacutentildeǰċacircȎľG
ȚǪņŅƗethUgraveOgraveȍdzǸȞ ƦƩƢƨƢƨ ŒĕǪņŅƗethȎĈ_ɈɔȨəŒĕƘdeuml
ɜǛǏNjǕƢǝǓǖǏƛǚǞNjǔǓǗǑƢǓǗǎǞǍǏǎƛǍǘǗǟǏǛǜǓǘǗƯƛǁǃƢǀDŽƸƲɝUgraveOgraveȌȋǵEacuteăȉǯȞǫƛ
bull ƿƦƥƪƻȚ ƳƦƬƭƽȎ ƵƵƸ ȉȏuacuteĖȌʼnČucircȍiacuteǽǪƿƦƥƪƻ ȉȏɂɛȪəȶȾȳɍȡȊǿȞČșǰȞǹȊȡćǿȞǫDžƦƭƥƸ ȏuacuteĖȌɤɥɣą$ǴȜż2ǽDZȞcMǵǯȞǵǪƼƧƨƧǁ ȏ
ŶnUgraveĴȡǽȌǰȊqĔ ƲƹƳ ȊȎż2ȏȉǶȌǰǫƛ
bullůǪŊħĶƄwǪIgravetimesħĶƄwȡČucircȊǿȞŶɈɔȨəċǵbTǻȟȈǰȞǫƛ
ɢĀǰmiddotˌĢ CJDGSSFFI [ɻ-2P102L AacuteǪ CJD ƓDZǘ
frac34GSS 2 3V180IM232RˌĢΞΰ͵εǰUacuteţƢʒŠˌIcircƏȲĚ 4ʾΞΰ͵εɷǸκprion protein PrPλˌ
IcircǪuacuteȓȷDZBΞΰ͵εǰʒŠ˱ƳīĚʂ
ŹˍAtildeǰmiddotʊʝˌĢ CJD ʒŠordmdž CJD UacuteţƢų
CJD PRNPˌIcircAacuteǪųDZ7ɢĀDZǘETHǶĢ CJD dž
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ŗǦƢƧƣƛ Lʼnċ_ȊbTǻȟȈǰȞŶnfĈƛ
ʼnċā$ƛ ȯȼəƛ ȣɌɀźĺmacrƛ ȯȼə ƦƧƮƛ raquouumlƛ
ƶǂǂƛ
ƦƥƧƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƷǜǓNjǘơƛƦƮƭƮƛƪƛ
Ʀƥƪƛ ǙǛǘǕǓǗǏƛ ǩƛ ǕǏǞǍǓǗǏƛ ǟNjǕǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƫƛ
ƦƦƬƛ NjǕNjǗǓǗǏƛ ǩƛ ǟNjǕǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ǃǛNjǗǍǒNjǗǝơƛƦƮƭƮƛƬƛ
ƲƹƳƛ
ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǟNjǕǓǗǏƛ ƶNjǖnjǏǝǝǓơƛƦƮƮƪƛƭƛ ƛ
Ʀƭƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƦƭƥƛƠƛ
ƧƨƧƛ
ƦƭƥƯƛDžNjǕƛ ǩƛ ƸǕǏƛ
ƧƨƧƯƛƼǏǝƛ ǩƛ ưǛǑƛǖǏǝǒǓǘǗǓǗǏƛ ƷǓǝǘǜǒǓơƛƦƮƮƨƛƦƥƛ
Ƨƥƥƛ ǑǕǞǝNjǖNjǝǏƛ ǩƛ ǕǢǜǓǗǏƛǟNjǕǓǗǏƛǘǛƛǖǏǝǒǓǘǗǓǗǏƛ
ƶǘǕǎǑNjnjǏǛơƛƦƮƭƮƛƦƦƛ
ƧƦƥƛ ǟNjǕǓǗǏƛ ǩƛ ǓǜǘǕǏǞǍǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƿǘǍǍǒǓNjǛǓơƛƦƮƮƨƛƦƧƛ
ƧƨƧƛ ǖǏǝǒǓǘǗǓǗǏƛ ǩƛ NjǛǑǓǗǓǗǏƛ ǗǘǝƛǜǝNjǝǏǎƛ ƺǓǝNjǖǘǝǘơƛƦƮƮƨƛƮƛ
ƶǂǂǪƲƹƳȌȋ
hƛ ƛ
ȯȼə ƪƦƢƮƦ Ǝ`ȎɊɈȸȼFŹ0Ÿȓ
Ȏ ƭƛƢƛƬƧ ȣɌɀźordfǪƦƫ ȣɌɀźszligkƛ
ƻNjǙǕNjǗǍǒǏơƛƦƮƮƪƛƦƨƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƨƛƦƩƛ
ƾǠǏǗơƛƦƮƭƮƛƦƪƛ
ƶǘǕǎǐNjǛnjơƛƦƮƮƦƛƦƫƛ
ǟNjǗƛƶǘǘǕơƛƦƮƮƪƛƦƬƛ
ƱǏǍǔƛƧƥƥƦƛƦƭƛ
ƵƵƸƛ ƦƬƭƛ NjǜǙNjǛǝNjǝǏƛ ǩƛ NjǜǙNjǛNjǑǓǗǏƛ ǖǏǝǒǓǘǗǓǗǏƛ ƼǏǎǘǛǓơƛƦƮƮƧƛƦƮƛ
ŊħĶƄwǪƛ
IgravetimesħĶƄwƛ
Ʀƫƨƛ ǝǢǛǘǍǓǗǏƛǩƛǘǝǒǏǛǜƛ ǟNjǕǓǗǏƛ ƼǏNjǎơƛƧƥƦƨƛƧƥƛ
ƦƬƭƛ ƧƢnjǙƛǎǏǕǏǝǓǘǗƛƝƲǃƞƛ ƛ ƼNjǝǜǞǣǘǗǘơƛƧƥƦƨƛƧƦƛ
ƝƦƞƛDžƦƭƥƸ fĈ ƲƹƳƛ
ˏ MRIųǡDWIQ7ĒɱęLJdĒ˩Qsup1AumlɛǺʬΰΣεǘordmāƇoacuteocircAumlɛǺʬQ1ƹɝǘɝɜIreg1-3uumlacuteǶDZyacute 765 ơǶDZ^ǶDZǘʐ˙i˲Ugraveɂē˅ɹ
UacuteţƢųMRI ŔďDZ7Alzheimer ǰʒŠɛƲŶĢŶĢŗ˷κperiodic synchronous discharge PSDλȯ 9ɛɚƽ 14-3-3ɷ
Ǹȯ 80ˮĢǛRT-QUICƱˮĢǛȯ 62 22
( )- 1
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ƝƧƞƛƿƦƥƧƻ fĈ ƶǂǂƛ
ˏ MRI ^ŶAacutetʙaumlųǡuumlacuteǶDZyacute 537 ơɬǗOtildesup2sup1DǶDZGƻʿǛpoundʒ˔ʂ 4ɚatildeɛ
AacuteĢDZʒŠDZ7Atildeȯ 90atildeɛDZǘǶDZΦ͵ͺγθΓȯ 30ʙ
ɔǪuacuteĬʆDZ7 23CJDǰmiddotfrac34ǜUacuteȮVGSSǰmiddotCJDǰmiddotƿplusmnɛƲ PSDȯ 23ιɛɚƽ 14-3-3ɷǸȯ 25ˮĢ
RT-QUICƱˮĢǛȯ 88ųǡGSSʒŠordmdžɻ1-3Ȑ
ƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛ ċɜƶǏǛǜǝǖNjǗǗƢǂǝǛǤǞǜǜǕǏǛƢǂǍǒǏǓǗǔǏǛƯƛƶǂǂɝ
1 ȍOuml7κdefiniteλυ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴΞΰ͵εɷǸˌIcircAacuteǪʙɛȶɅ GSS ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
2 ȍOuml7κprobableλυɢĀDZǘΞΰ͵εɷǸˌIcircAacuteǪȍOuml7ǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
3 Ǭ7κpossibleλυUacuteţƢ˅ɹĢʙȉDZatildeɛDZǘDzĢszligǴ+Ξΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
ƝƨƞƛƴƧƥƥƺ fĈ ƲƹƳƛ
DZǘETHǶĢ CJDUmiddot7ġˁ˅ɹĢuumlacuteǶDZyacute 586ơɬŹˍUacuteţƢȍʙ7ȯ 54ǗOtildesup2sup1DAtilde 1 4ɛƲ
PSD ȯ 92ˏ MRI ȯ 94ɛɚƽ 14-3-3 ɷǸȯ 87ˮĢRT-QUICƱˮĢǛȯ 85ųǡ 4
ƝƩƞƛƼƧƨƧǁ fĈ ƲƹƳƛ
ETHǶĢ CJD Umiddot7ġˁ˅ɹ7 MM2 ǺʬmiddotƓɂē˅ɹ7κETHǶĢ
CJD ˾Ǔλ4 24UacuteţƢˌIcircƏȲĚ 1 4
Ɲƪƞƛ ȂȎƛ
P105L AacuteǪ GSS Źˍfrac12AacuteǪuumlacuteǶDZyacute 44 ơɬyacute˻uacuteɂē˅ɹ7Atilde 4 25 26AEligʟDZǘDzĢszligǴʙ7AtildeűʻΘθεΒ΄Χ
7AtildeəĢŃőˏ MRIɛƲ PSDˮĢǛ 0ω15țăʒŠųǡ
D178N-129MM FFID178N-129MV ETHǶĢ CJD Umiddot7Ěv_7ƳīĚʂ 27 28ǶDZyacuteuumlacute 523 ơFFI ʒŠordmdžɻ1-4Ȑ
D ŋatildexAgraveĝČƛ ƝǐNjǝNjǕƛǐNjǖǓǕǓNjǕƛǓǗǜǘǖǗǓNjƯƛƵƵƸƞƛ
7 ȍOuml7κdefiniteλυɢĀǹ˅ɹĢȅʙȉDZĬȓȷɦEgraveǘĭΦ͵ͺγθΓatildeɛAEligʟ˚1ʱĘBǑpĢǑʋ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε129 MetMet ɛȶɅ FFI ǗĘǹǰǟĴʃʓŧͱͲΈεΝγΏƱNǭȶɅNtildeǹƏƅǪuacuteΞΰ͵εɷǸƏZ
8 ȍOuml7κprobableλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircΐε 178 AacuteǪųΐε 129 MetMetǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
9 Ǭ7κpossibleλυɢĀǹ FFI ȈȀDZǘΞΰ͵εɷǸˌIcircAacuteǪǰǟĴʃηǪuacuteΞΰ͵εɷǸʓŧĕ
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
1 Nozaki I Hamaguchi T Sanjo N Noguchi-Shinohara M Sakai K Nakamura Y et al Prospective 10-year
surveillance of human prion diseases in Japan Brain 2010 133 3043-3057
2 Webb TE Poulter M Beck J Uphill J Adamson G Campbell T et al Phenotypic heterogeneity and genetic
modification of P102L inherited prion disease in an international series Brain 2008 131 2632-2646
3 Wadsworth JDF Joiner S Linehan JM Cooper S Powell C Mallinson G et al Phenotypic heterogeneity in
inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and
mutant prion protein Brain 2006 129 1557-1569
4 Higuma M Sanjo N Satoh K Shiga Y Sakai K Nozaki I et al Relationships between clinicopathological features
and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases PLoS One 2013 8 e60003
5 Hsiao K Baker HF Crow TJ Poulter M Owen F Terwilliger JD et al Linkage of a prion protein missense variant
to Gerstmann-Straumlussler syndrome Nature 1989 338 342-345
6 Kitamoto T Amano N Terao Y Nakazato Y Isshiki T Mizutani T et al A new inherited prion disease (PrP-P105L
mutation) showing spastic paraparesis Ann Neurol 1993 34 808-813
7 Tranchant C Doh-Ura K Steinmetz G Chevalier Y Kitamoto T Tateishi J et al Mutation of codon 117 of the
prion gene in Gerstmann-Straussler-Scheinker disease Rev Neurol 1991 147 274-278
8 Gambetti P Parchi P Petersen RB Chen SG Lugaresi E Fatal familial insomnia and familial Creutzfeldt-Jakob
disease clinical pathological and molecular features Brain Pathol 1995 5 43-51
9 Kitamoto T Ohta M Doh-ura K Hitoshi S Terao Y Tateishi J Novel missense variants of prion protein in
Creutzfeldt-Jakob disease or Gerstmann-Straumlussler syndrome Biochem Biophys Res Commun 1993 191 709-714
10 Hitoshi S Nagura H Yamanouchi H Kitamoto T Double mutations at codon 180 and codon 232 of the PRNP gene
in an apparently sporadic case of Creutzfeldt-Jakob disease J Neurol Sci 1993 120 208-212
11 Goldgaber D Goldfarb LG Brown P Asher DM Brown WT Lin S et al Mutations in familial Creutzfeldt-Jakob
disease and Gerstmann- Straumlussler -Scheinkers syndrome Exp Neurol 1989 106 204-206
12 Pocchiari M Salvatore M Cutruzzola F Genuardi M Allocatelli CT Masullo C et al A new point mutation of the
prion protein gene in Creutzfeldt-Jakob disease Ann Neurol 1993 34 802-807
13 Laplanche JL Delasnerie-Laupretre N Brandel JP Dussaucy M Chatelain J Launay JM Two novel insertions in
the prion protein gene in patients with late-onset dementia Hum Mol Genet 1995 4 1109-1111
14 Goldfarb LG Brown P Little BW Cervenakova L Kenney K Gibbs CJ Jr et al A new (two-repeat) octapeptide
coding insert mutation in Creutzfeldt-Jakob disease Neurology 1993 43 2392-2394
15 Owen F Poulter M Lofthouse R Collinge J Crow TJ Risby D et al Insertion in prion protein gene in familial
Creutzfeldt-Jakob disease Lancet 1989 1 51-52
16 Goldfarb LG Brown P McCombie WR Goldgaber D Swergold GD Wills PR et al Transmissible familial
Creutzfeldt-Jakob disease associated with five seven and eight extra octapeptide coding repeats in the PRNP gene
Proc Natl Acad Sci USA 1991 88 10926-10930
17 van Gool WA Hensels GW Hoogerwaard EM Wiezer JH Wesseling P Bolhuis PA Hypokinesia and presenile
dementia in a Dutch family with a novel insertion in the prion protein gene Brain 1995 118 1565-1571
18 Beck JA Mead S Campbell TA Dickinson A Wientjens DPMW Croes EA et al Two-octapeptide repeat deletion
of prion protein associated with rapidly progressive dementia Neurology 2001 57 354-356
19 Medori R Tritschler HJ LeBlanc A Villare F Manetto V Chen HY et al Fatal familial insomnia a prion disease
with a mutation at codon 178 of the prion protein gene N Engl J Med 1992 326 444-449
20 Mead S Gandhi S Beck J Caine D Gajulapalli D Carswell C et al A novel prion disease associated with diarrhea
and autonomic neuropathy N Engl J Med 2013 369 1904-1914
21 Matsuzono K Ikeda Y Liu W Kurata T Deguchi S Deguchi K et al A novel familial prion disease causing
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
pan-autonomic-sensory neuropathy and cognitive impairment Eur J Neurol 2013 20e67-69
22 Qina T Sanjo N Hizume M Higuma M Tomita M Atarashi R et al Clinical features of genetic Creutzfeldt-Jakob
disease with V180I mutation in the prion protein gene BMJ Open 2014 4e004968
23 Yamada M Tomimitsu H Yokota T Tomi H Sunohara N Mukoyama M et al Involvement of the spinal posterior
horn in Gerstmann-Straumlussler-Scheinker disease (PrP P102L) Neurology 1999 52 260
24 Shiga Y Satoh K Kitamoto T Kanno S Nakashima I Sato S et al Two different clinical phenotypes of
Creutzfeldt-Jakob disease with a M232R substitution J Neurol 2007 254 1509-1517
25 Iwasaki Y Kizawa M Hori N Kitamoto T Sobue G A case of Gerstmann-Straumlussler-Scheinker syndrome with the
P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis Clin
Neurol Neurosurg 2009 111 606-609
26 Yamada M Itoh Y Inaba A Wada Y Takashima M Satoh S et al An inherited prion disease with a PrP P105L
mutation clinicopathologic and PrP heterogeneity Neurology 1999 53 181-188
27 Zarranz JJ Digon A Atares B Rodriguez-Martinez AB Arce A Carrera N et al Phenotypic variability in familial
prion diseases due to the D178N mutation J Neurol Neurosurg Psychiatry 2005 76 1491-1496
28 Taniwaki Y Hara H Doh-Ura K Murakami I Tashiro H Yamasaki T et al Familial Creutzfeldt-Jakob disease with
D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia J Neurol Neurosurg Psychiatry
2000 68 388
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ) -
ƛ
bullthornɈɔȨəċȏǪɃȻǴȜɃȻȓȎNtildeȍțȆȈĔċǽȃȝǪ13yacuteŰNtildeČȊǽȈugraveǴȜɃȻȓȎNtildeȍțȆȈūǹȞɈɔȨəċȉǯȞǫƛ
bull+ĖȍȏǪģňĪOslashȌȋȍțȞltCɈɔȨəċȚǪȥȱicircĸucircņČƛ ƝnjǘǟǓǗǏƛ ǜǙǘǗǑǓǐǘǛǖƛǏǗǍǏǙǒNjǕǘǙNjǝǒǢƯƛ ƱǂƴƞĄIcircȎfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛ ǎǓǜǏNjǜǏƯƛ
ǟƲƹƳɝǪɂɈȣɚȾɐɛȫȾȣȎȬɛɕɛȌȋǵǹȎthornɈɔȨəċȍƓǻȟȈǰȞǫƛ
bullthornɈɔȨəċȏɈɔȨəċȎȉȏaringŮĖīȌșȎȉǯȞǫƛbullǵ]ȉȏltCɈɔȨəċȎȉuacuteȍģňĪOslashȎ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛ ƲƹƳɝǵMŞ ƦƩƮ p^ǽɜƦƮƮƮ Ʃ EgraveǴȜȎ ƲƹƳ ȰɛɉȤɓəȲȉ ƭƫ ɝǪthornɈ
ɔȨəċȏĦĖȍș)ŔŖĂșŻŘȌťƑȉǯȞǫ
ǚĕĢΞΰ͵εǰwĢǙSˀĬƄDZ vCJDͺθαθ[
ʊʝĒpoundǏń
ƝƦƞƛ ltCɈɔȨəċƛ
wĢΞΰ͵εǰųfrac12ʉɠșƎȍʙ 1 2dɛAcircȗ
ĶɺćʮDZ7frac12 3ɛƲʐ˛ǡƾˏ˷ƑĬƄ7frac12
4frac12thornśwĢΞΰ͵εǰ
100 ʯͱΏΝβͰͺpara1αΩεɿf 5-7ȌɠșƎ 8dɎΜίεͰΰ
ȫmacręIJ˟αΩεɿfΙΏpara1ľZƥ˯ɿfǶǰ
thornijmacrfrac127ĒɎdegAǹijmacrfrac12Atildećȼʘʽ
ǭģňĪOslash ƲƹƳǮƛ
ɛAcircȗĶɺĒƙŏȌɠɾǽǹƣ1ņȌɠ6ǡ
1987 yacuted4ɿșƎǡȌɠκcentυLyoduraregλήθγΘʤmacrǰǟʊeƱwʊe
ĕȌɠ6ǡȌɠ6ǡΐΑθʙȉDZǯĤ˩AcircΞ
ΰ͵εljɯoƂƩ˓tΑΏΰͱΧYǟȌɠșƎĤɎκβ
ΛͳεΏλijmacr 149 CJDĤɎǶǰȌɠșƎĒ CJD dura mater graft
associated CJD dCJD13 ĤɎĶɺŪʒŠǰɻ-1DZ7śAtilde˿ǰʐʷǨǹƧʶǹĒɨǯĤAtildeŃőijmacrȓ
ȷɸȨǂdegɺκJannetta ĶɺλĤɎƧʶǹAtildeǗĘ 9ǶǰĤɎƑaumlś
7Acirc˩ˌIcircmiddotQ7ΐε 129MetMet ǰǟNtildeǹΦγͰΐŞˮĢ7 30ιdĒͱͳΈεΝγΏΈͰΞ 1 ΈͰΞ 2 ˣmiddot[Icirc˖Ȑ MV2 VV2 Ξΰ
͵εĬƄɍςρƤ 70ιΑΞmiddotǪuacuteΞΰ͵εɷǸƭȇψψςv_DZ7ςςšǶǰɎǞplusmnʙĤɎ 20 yacuteNJ(ŶˣȷǶǰ
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
)- b PT ģňĪOslashȡHǸȃċaeligƛ Čsup1ƛ
ƗňŇƛ ƧƮƛ
oslashƒƋčacuteƛ ƦƮƛ
ľħĶŇĐƛ ƦƬƛ
ȬɎňœƛ ƦƦƛ
iņɚ|ņœƛ ƭƛ
Ɖńlƛ Ƭƛ
EħĶĎƛ Ƭƛ
ņńđƛ ƫƛ
ģňgɚģňœƛ ƫƛ
gƛ ƫƛ
ȂȎƛ ƧƧƛ
ƝƧƞƛ fĈ_ ƲƹƳƦƧƛ
1985yacuteɮmacr BSE epidemic1993yacute BSEǶǰś 3ǘĭɤƤĞ 1995yacuteΙΏ vCJDĔżš CJDZǞĊ^ɮmacr
ǶǰɮmacrήθγΘmacr BSEƫƄǕɒʸZˆΜίεaumlśήθγΘmacrǶǰʙǞŪǏ180ĤɎśvCJDĔż CJD ƧƃȓȷȮAcircɧɡumlΞΰ͵εŧȍIumlplusmn
ɧɡumlĬƄĢȉĒpoundǏƚĬƄ˥Ɲ˔ʂȗNtilde
ǹΐε 129MetMet AcircˌIcircmiddotǶǰacircżZZfrac34ʒŠordmdž
AacuteůĚʂəĢĒθΠͰίεȊȟ˔ʂΐε 129MetMet vCJDDZ7Atildeΐε 219GluLysAtildemiddotĢ 2010yacutefrac12 13Atildemiddot
ɢĀDZBΐε 219GluGluκΐε 129MetMetλʒŠordmdžAacuteůɢĀʒŠ
ə
Ɲƨƞƛ ȬɛɕɛƦƩƛ
Gajdusek Agrave˸˟œIJjĬƄŧǯĤ15ɌĮĬƄIJȠĒȕƝʼnɇĤɎśnjǂ
ʓŧͺθαθǞplusmnijŘʏȕƝʼnɇ 50 yacuteȷˈͺθαθǶǰʙǏ 16ͺθαθĬƄdCJDΦγͰΐŞˮĢ7
ƓĬƄĢΐε 129AtildemiddotǰǟIMV2 VV2Ξΰ͵εĬƄŧ 17 18ijǚĕĢΞΰ͵εǰNJ(Ŷˣɍ50 yacute˟Ŷ
ʙʦĚʂȐ
ƝƩƞƛ ȎWƑotildeƛ
wĢΞΰ͵εǰʽǞplusmnĬƄDžŧDZ7poundăǶǰ
wĢΞΰ͵εǰAtildeETHǶĢ CJD ɢĀDZǘηȷˈv_Ǟ
plusmnijmacrΞΰ͵εǰǶǰǾdɛAcircȗEumlĶɺʈɸǹƏƅfrac34
IumlplusmnΞΰ͵εǰƚĬƄıĞacircżǹƚĬƄ˥mić
ȼɹdCJDͺθαθŧ MV2 VV2 Ξΰ͵εszligljɯƱˢǶyenȾʞ
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
1 Duffy P Wolf J Collins G DeVoe AG Streeten B Cowen D Possible person-to-person transmission of
Creutzfeldt-Jakob disease N Engl J Med 1974 290 692-693
2 Heckmann JG Lang CJ Petruch F Druschky A Erb C Brown P et al Transmission of Creutzfeldt-Jakob disease
via a corneal transplant J Neurol Neurosurg Psychiatry 1997 63 388-390
3 Nevin S McMenemey WH Behrman S Jones DP Subacute spongiform encephalopathya subacute form of
encephalopathy attributable to vascular dysfunction (spongiform cerebral atrophy) Brain 1960 83 519-564
4 Bernoulli C Siegfried J Baumgartner G Regli F Rabinowicz T Gajdusek DC et al Danger of accidental
person-to-person transmission of Creutzfeldt-Jakob disease by surgery Lancet 1977 1 478-479
5 Koch TK Berg BO De Armond SJ Gravina RF Creutzfeldt-Jakob disease in a young adult with idiopathic
hypopituitarism Possible relation to the administration of cadaveric human growth hormone N Engl J Med 1985
13 731-733
6 Gibbs CJ Jr Joy A Heffner R Franko M Miyazaki M Asher DM et al Clinical and pathological features and
laboratory confirmation of Creutzfeldt-Jakob disease in a recipient of pituitary-derived human growth hormone N
Engl J Med 1985 313 734-738
7 Powell-Jackson J Weller RO Kennedy P Preece MA Whitcombe EM Newsom-Davis J Creutzfeldt-Jakob
disease after administration of human growth hormone Lancet 1985 2 244-246
8 Hoshi K Yoshino H Urata J Nakamura Y Yanagawa H Sato T Creutzfeldt-Jakob disease associated with
cadaveric dura mater grafts in Japan Neurology 2000 55 718-721
9 Hamaguchi T Sakai K Noguchi-Shinohara M Nozaki I Takumi I Sanjo N et al Insight into the frequent
occurrence of dura mater graft-associated Creutzfeldt-Jakob disease in Japan J Neurol Neurosurg Psychiatry 2013
84 1171-1175
10 Kobayashi A Asano M Mohri S Kitamoto T Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease
creates a new prion strain J Biol Chem 2007 282 30022-30028
11 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
12 Heath CA Cooper SA Murray K Lowman A Henry C MacLeod MA et al Validation of diagnostic criteria for
variant Creutzfeldt-Jakob disease Ann Neurol 2010 67 761-770
13 Lukic A Beck J Joiner S Fearnley J Sturman S Brandner S et al Heterozygosity at polymorphic codon 219 in
variant Creutzfeldt-Jakob disease Arch Neurol 2010 67 1021-1023
14 Gajdusek DC Zigas V Degenerative disease of the central nervous system in New Guinea the endemic occurrence
of kuru in the native population N Engl J Med 1957 257 974-978
15 Gajdusek DC Gibbs CJ Alpers M Experimental transmission of a Kuru-like syndrome to chimpanzees Nature
1966 209 794-796
16 Collinge J Whitfield J McKintosh E Frosh A Mead S Hill AF et al A clinical study of kuru patients with long
incubation periods at the end of the epidemic in Papua New Guinea Philos Trans R Soc Lond B Biol Sci 2008 363
3725-3739
17 Parchi P Cescatti M Notari S Schulz-Schaeffer WJ Capellari S Giese A Zou WQ Kretzschmar H Ghetti B
Brown Pƛ Agent strain variation in human prion disease insights from a molecular and pathological review of the
National Institutes of Health series of experimentally transmitted disease Brain 2010 1333030-3042
18 Cervenaacutekovaacute L Goldfarb LG Garruto R Lee HS Gajdusek DC Brown P Phenotype-genotype studies in kuru
implications for new variant Creutzfeldt-Jakob disease Proc Natl Acad Sci USA 1998 95 13239-13241
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
8
ƛ
bull ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛƲƹƳɝ
AEligƈacircȍ7DzȈǪqĔ ƲƹƳ ȎŠfrac14aocircɜŗǥƢƦɝȡŵăǽȈŠfrac14ǿȞǫƛ
bull Ƞǵ]ȉbTǻȟȈǰȞltC ƲƹƳ ȏ(ȈģňĪOslash ƲƹƳƛƝǎǞǛNjƛǖNjǝǏǛƛǑǛNjǐǝƛNjǜǜǘǍǓNjǝǏǎƛƲƹƳƯƛǎƲƹƳƞȉǯȞǫƛ
bull ǎƲƹƳ Ȏij ƧƤƨ ȏ ƲƹƳ_ȉǯȞǵǪaumlȝȎij ƦƤƨ ȏǪɈɓɛȬ_ȊVȐȟȞƊ_ȉǪŲŕǵaringŮĖųǷǪĔČAcircEumlȍȏņigraveȍUEumlNEumlmiddotƇɜǙǏǛǓǘǎǓǍƛǜǢǗǍǒǛǘǗǘǞǜƛǎǓǜǍǒNjǛǑǏƯƛ
ƿǂƳɝǵĀǽȌǰǹȊȍiacuteǿȞɜŗǧƢƧɝǫƛ
bull fĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċɜǟNjǛǓNjǗǝƛƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnjƛǎǓǜǏNjǜǏƯƛǟƲƹƳɝȎŠfrac14ɠIJħČucircȉĔČǿȞǹȊǵhǷǪċ1EumlȍȏţĠTHORNŃƄwǵĘįȃȌǰȌȋqĔ ƲƹƳ ȊȏĈȌȞʼnČ
ȡSǽǪƏŸ ƼǁƸ ȉJzĩȎŚIumlƘKǵȗȜȟȞȌȋȎuacuteĖUgraveOgrave řȡĥǽǪ
Ć THORNUcircƝdžǘǛǕǎƛƷǏNjǕǝǒƛƾǛǑNjǗǓǣNjǝǓǘǗƯƛdžƷƾƞŠfrac14aocircɜƧƥƥƦɝɜŗǧƢƨɝǪȂȟȡparaŝǽȃ
ƴǞǛǘƲƹƳƛƝƴDŽƞȎŠfrac14aocircɜƧƥƥƭɝɜŗǧƢƩɝȡăǰȈŠfrac14ǿȞǫƛ
Ǟplusmnfrac12ΙΏǚĕĢΞΰ͵εǰwĢ CJDvCJD ͺθαθ 3 Ȝ
IumlplusmnmacrǶDZȍʙwĢ CJD dCJD vCJD
ƝƦƞƛ ģňĪOslash ƲƹƳƛ ƛ
dCJDʒŠETHǶĢ CJDʒŠordmdžκɻ-1λƯ CJDʒŠɹĒˈwǵɹǐȍʙȌɠșƎƢ dCJD ʒŠŪΞΰ͵εɷǸˌIcircƏƅˌĢΞΰ͵εǰ˩Acirc
dCJD ȯ 23 Uǹ CJD ɢĀǰǟIUmiddot7κ˻ΞίθͺmiddotλŢdCJDȯ 13ɛǰǟΞίθͺǘΞΰ͵εɷǸƭȇʙΞίθͺmiddotƧʶǹɂē˅ɹĢˇ
pAEligʟDZǘUmiddot7ɛƲ PSDǶDZ 1yacuteVZǞɢĀDZBUmiddot7Ǫ 1Ξίθͺmiddot dCJD ɢĀʒŠordmdžκƊλŊƊκɻ-2λ1 2
ŗǧƢƧɟɈɓɛȬ_ ǎƲƹƳ ȎŠfrac14aocircɜOumlɝƦơƛƧƛ
qĔ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircȍocircȀȞǵǪɃȻdivideģňĪOslashacircǵǯȝǪŲŕȎkŦČucircȡSǽȃČ
ȏǪņigraveȍȈUEumlNEumlmiddotƇɜƿǂƳɝȡţȘȌǷȈșǪȔȕĤuɜǙǛǘnjNjnjǕǏɝȊǿȞǫƛ
ƝƧƞƛ fĈ_ ƲƹƳƛ
vCJD ȬȓDZǘǶDZdzǪuacuteĬʆĬʆ˲UgraveǶDZ^ŶAtilde 3 ʒ
ŠWHOʒŠordmdžκ2001λκɻ-3λ4Ĕɹˏ MRI T2ĉʟǧI FLAIRǧIoacuteszligȘĢʅĀƀκpulvinar signλǗĘǹκreg-1λmacr^ vCJD DZ7ǶDZĒŶɛƲ PSD ʙ 5WHO ʒŠordmdžȍOuml7κprobableλ˾ɛƲĒŶ
ŶĢQɧĢʀƲȚʃkȤ 6ʸɸˤ˃ vCJDɈĤ7κwĢDZ7λfrac12 7ʲŖʌʒŠordmdžκ2008λ EUZκɻ-4λ8ȍOtildeʒŠɛǗĘǹǪuacute PrP ƭȇκǰǟπͱͲΈεΝγΏλʓŧĚʂĵƉǠƏɹĶĸ˭+ɢĀȷˈɥ pulvinar
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 - -
sign7ˋě˧
ŗǧƢƨƣƛ fĈ_ ƲƹƳ Šfrac14aocircɜdžƷƾƛƧƥƥƦɝƩƛ
I A B 6 C 9 D E Creutzfeldt-Jakob
II A 9 9 9 9 B C D 9 9 E
III A PSD B MRI
IV A
definite probable
possible
I A 9 I II 45 III A III B I II 45 III A
ƟŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵfĈ_ƲƹƳȍMŋǽǪƏŸƼǁƸȉŚIumlƘKȡţȘȌǰȉƛ
EacuteăȉǯȞǫƛ
ƟƟiņdzțȑ|ņȍǪicircĸucircfȊ ǐǕǘǛǓǎƛǙǕNjǚǞǏ ȡDZĈɈɔȨəŒĕȎegraveĞȡţȘȞǫƛ
ǧƢƦɟǟƲƹƳ Ȏ ƼǁƸƛǃƧ Ŧą$ƛ
ȎŚIumlɜğAɝȍƘKɜǙǞǕǟǓǗNjǛƛǜǓǑǗɝǵřȜȟȞǫ
ɜŏ] ƲƹƳ ȰɛɉȤɓəȲɑȾȹȻ ƳƣưƣƛƲǘǕǕǓǏ eȎǺB
ȍțȞɝ
ƛ
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ŗǧƢƩɟfĈ_ ƲǛǏǞǝǣǐǏǕǎǝƢƹNjǔǘnj ċȎŠfrac14aocircɜƴDŽƛƧƥƥƭɝƭƛ
A ĚŻ ȷˈ 6 ζŲ˅ɹĢȬȓηȓȷDZB ɧƏƅǯĤOtilde
ΙΏǣżpara1αΩεȌɠșƎƮǵƢ
ˌĢˊĢƺȽǘɛDZOtilde
B ɢĀDZB 5DZBauml 4ʙ
ǶDZ^ŶȬȓDZǘκĺOacuteǑˤęɣˡEacuteĪλ
łȼdzǪuacuteĬʆκɎλ
AEligʟ
Φ͵ͺγθΓβΏΒ
ʙȉDZ
C ƏƅĴʃ ȍOtildeʒŠ
AumlɛatildeɛƺȽǘAacutet florid plaque +ǪuacuteΞΰ͵εɷǸƭȇʙ ƏƅĴʃ
ɛƲŶĢŶĢŗ˷κPSDλ˫Ģ ˏ MRIFʅĀƀ ĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢ
D ǭNtildeǹĴʃ ǭNtildeǹˤ˃ȐΙΏΙΏœκʸɸλ
E ʒŠ ȍOuml7 Ɲdifiniteƞ
A ĚŻ C ƏƅĴʃȍOtildeʒŠDŽ ȍOuml7ƛ Ɲprobableƞ
A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫ĢˏMRIFʅĀƀDŽ
A ĚŻDŽC ƏƅĴʃĵƉǠƏǪuacuteΞΰ͵εɷǸˮĢȍʙ
Ǭ7ƛ Ɲpossibleƞ A ĚŻ B ɢĀDZBDŽC ƏƅĴʃɛƲ PSD˫Ģ
ƟƛǟƲƹƳ ȎĔČEumlȍȏǪīȍ ƿǂƳ ȡţȘȞǹȊǵǯȞǫƛ
ƟƟƛ ŰǪiexclOtildeĂUgraveȏshymǽȌǰǫȃȄǪʼnČǵ ǟƲƹƳ ȍMŋǽɞƏŸ ƼǁƸ ȉŚIumlƘKȡţȘȌǰȉ
EacuteăȉǯȞǫƛ
1 Noguchi-Shinohara M Hamaguchi T Kitamoto T Sato T Nakamura Y Mizusawa H et al Clinical features and
diagnosis of dura mater graft associated Creutzfeldt-Jakob disease Neurology 2007 69 360-367
2 Yamada M Noguchi-Shinohara M Hamaguchi T Nozaki I Kitamoto T Sato T et al Dura mater graft-associated
Creutzfeldt-Jakob disease in Japan clinicopathological and molecular characterization of the two distinct subtypes
Neuropathology 2009 29 609-618
3 Will RG Ward HJ Clinical features of variant Creutzfeldt-Jakob disease Curr Top Microbiol Immunol 2004 284
121-132
4 World Health Organization The revision of the surveillance case definition for variant CJD 1 ed Geneva
Switzerland WHO 2001
5 Yamada M The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram
Lancet 2006 367 874
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
6 World Health Organization Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD)
httpwwwwhointzoonosesdiseasesCreutzfeldt pdf
7 Llewelyn CA Hewitt PE Knight RS Amar K Cousens S Mackenzie J et al Possible transmission of variant
Creutzfeldt-Jakob disease by blood transfusion Lancet 2004 363 417-421
8 2008426EC Commission Decision of 28 April 2008 amending Decision 2002253EC laying down case
definitions for reporting communicable diseases to the Community network under Decision No 211998EC of the
European Parliament and of the Council (notified under document number C(2008) 1589) [cited 2012 May 14]
Available from httpeur-lexeuropaeuLexUriServLexUriServdouri=OJL2008159004601ENHTML
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
bullĊȎŊoumlacircȎŦOgraveȚeacuteĒȎſĔȍȏŻČŢǵƍȉǯȞǫƛbullȠǵ]ȎƆċzİUacuteȉȏŻČŢȊǽȈ ƱNjǛǝǒǏǕƛƸǗǎǏǡ ǵlaquoăǻȟȈǰȞǫƛbullůɈɔȨəċȍzǿȞŻČŢȲȮɛɕǵſĔǻȟǪ3ăǻȟȏǾȘȈǰȞǫ
ƝƦƞƛ łAringɚĘĖƛ
Ξΰ͵εǰˋ˔DZă[Ξΰ͵εǰǰmiddotǪAtildeč
ȓȷDZB˅ɹǟǣɍszlig˔DZă
ʔͼθαIumlplusmnǯĤɣǒƢʟƅƮǵˢǶ˔DZăʔĚ
macrǠnHȁ˶ǰszligȧƐκ˶ǰƱordm˶ǰwǵʫlIJaăλΞΰ͵εǰ
˔DZă[ Barthel Index1ǡκɻ-1λŹˍΞΰ͵εǰɣǒƢʟƅȊȟκJapanese Consortium of Prion Disease JACOPλ Medical Research Council Prion Disease Rating Scale MRC Scale26ǡκɻ-2λŹȝǞplusmnfrac12˔DZăʔͼθαʽ
ŗǨƢƦɟƱNjǛǝǒǏǕƛƸǗǎǏǡƛ
9 99
9 9
(
9 9 9
9
9 9 9
() 9 9() 9
9 ( )(
9
9 9 99 9
9 99 9
99
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
1) 2
9
9 9
9
9
(
9
9
9
9
9
9
ƝƧƞƛ ŜŤɚȧɄȺəȲƛ
Ξΰ͵εǰ˅ɹAtildeͼθDZǘġnjiquestĦǑpǑʋǘĭ
˪˔DZă[IJȠ˔DZă[˅ɹˁ
ăġˁ˅ɹĢɂē˅ɹĢ[ə˔DZă[
ǗOtildeŪǏ˔DZăʔͼθα6ǡǞOumlǹ
ɧǹǯĤ˔DZăʔͼθα˲UgraveăηDZBʔŤ
uacuteǠƵp4κactivities of daily living ADLλʔǠƵʬκquality of life QOLλʔ
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
ǞplusmnmacrǠnHȁ˶ǰszligȧƐņǡΞΰ͵εǰ˔DZăʔ Barthel Index1 ʐŤuacuteǠƵp4ʔͼθαʗĊͼθαɲ
ɲɎȪltɣȠăŃƔΰΖΚΰθέεoƂʔųǡ
1ǞplusmnͼθαɛzΰΖΚΰθέεʔŃƔɄǡ 2
Barthel Index ʔǏ 0 Ǐ 100 Ǐ[divide100 ǏEuacuteǘĭɧǹ 80
ǏĤɎɣȠ40 Ǐɲ9IumlǹΞΰ͵εǰDZǘ˅ɹ˄|-ʔǏśǂaumlĪŹǯĤ Barthel
Indexˤ˃Əʎfrac12 Ξΰ͵εǰǗt˔DZăʔͼθαCreutzfeldt-Jacob disease Neurological
Symptoms CJD-NSscale 4ű^ʐ˲UgraveăηDZBʔͼθα
ʗĊΞΰ͵εǰZǞȓȷĘB 8ͶͿΰθ[ʍ 26˾ǽ]ʐ˾ǽ 0 = 1 = ʵăκǬλ2 = ˔ăκŧλ 3ƥ˯ʔ
ʍʍǏ 0 Ǐ 52 Ǐ[divideCJD-NS ǶDZŪˣȷˈǏśŦʐʷță˔DZăʔƗəͼθαĠ
poundǏȣǏǑpǑʋǘĭ˾ǽǏǑpǑʋǘĭΞΰ͵εǰ˔DZă
ī˔ʂ˾ǽȣǏ˾ǽǏś˒[˔
ǏȣǏ]ʐ˾ǽDZǘ˅ɹǽȠʔ
DZǘ˅ɹǏśAacuteκfrac34ǂauml
λǠ
JACOP 6ǡ MRC Scale ʐŤuacuteǠƵp4ʔͼθαʗĊΞΰ͵εǰǗĘǹʋʚƗəʙȉƗəʔkǏǗĘǹǑpǑ
ʋǘĭʔŤuacuteǠƵp4ˤͶͿΰθ 7˾ǽʋʚηʙȉƗəηƚɛƗəͶ
Ϳΰθ 4 ˾ǽʍ 11 ˾ǽIJʑpoundVUcircě 25 ƥ˯ʔ0 1Ǐʔ˾ǽ0 1 2 3 4Ǐʔ˾ǽĕǏ 0Ǐκű˔DZλ 20Ǐ[
divideǞŪǏΞΰ͵εǰʔűˋ˔DZăͼθαɍ
1 Mahoney FI Barthel DW Functional evaluation the Barthel Index Md State Med J 1965 14 61-65
2 Thompson AG Lowe J Fox Z Lukic A Porter MC Ford L et al The Medical Research Council prion disease
rating scale a new outcome measure for prion disease therapeutic trials developed and validated using systematic
observational studies Brain 2013 136 1116-1127
3 Harrison JK McArthur KS Quinn TJ Assessment scales in stroke clinimetric and clinical considerations Clin
Interv Aging 2013 8 201-211
4 Cohen OS Prohovnik I Korczyn AD Ephraty L Nitsan Z Tsabari R et al The Creutzfeldt-Jakob disease (CJD)
neurological status scale a new tool for evaluation of disease severity and progression Acta Neurol Scand 2011
124 368-374
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ) -
bull ɈɔȨəċȎeacuteĒȏOacuteƕǪVRıāȚŌĖȮȣǵiquestǻȟȞȎȗȉǪĊȎeacuteēǯȞǰȏŲŕųȡȘǼǽȃĊƔeacuteĒȏ ƧƥƦƧ ƂȍǪfrac12ȃȌ9ETHĖő5ȎĔřȏȌǰǫǹȟȖȉȍŕ
ȠȟȃʼnġĮǴȜȎȧɄȺəȲȡĥǿǫƛ
bull ȪȽȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈĊƔ9ETHȏPtĖȉǯȞǫȖȃŀƄwȎĀǵhǷǪshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɆɕɅɕȸəȏAtildeȜǴȌĊƔ9ETHȏţȘȜȟȀǪIacuteŷȍdzǸȞăĶƖșȌǷshymȏǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ȼȪȱȰȤȬɔəĶIǯȞǰȏĶıbrvbarȍƁǽȈǪĀ^ȖȉĊƔ9ETHȏĤţǻȟȈdzȜȀǪIacuteŷȍdzǸȞăĶƖșȌǷs(ǵAtildeȉǯȞɜshymȭɖɛȼ ƧƳɝǫƛ
bull ɊəȻȰəĢźņv-copyķbrvbareumlȍțȞĊƔ9ETHȏšAtildeǻȟȈdzȜȀǪgĨĖcentpoundȡŘǿȞȃȘshymǻȟȌǰɜshymȭɖɛȼ ƧƳɝǫƛ
bull ĶIsup3Gǵ[ƆȊȌȆȃcMȏǪŌȍĶƚŁıȌȋȍțȆȈĶıOacuteƕǵŕȠȟȞǵǪȂȎ9ETHȍȇǰȈAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
bull ĶŴȍĀǿȞɌȨȬɗɛȿȲȍzǽȈȏǪŌȍȬɗȽȵɂɍȚɁɕɈɗźǵăǻȟȈǰȞǵǪAtildeĤȌȧɄȺəȲȏȌǰɜshymȭɖɛȼ ƧƲɝǫƛ
ƞuacutemiddotΞΰ͵εɷǸκcellular prion protein PrPCλLjĢǪuacutemiddotΞΰ͵εɷǸ
κscrapie prion protein PrPScλƒ˂Aacutet˦Ugrave4ǡPrPScX˵ĺaʥ=˅
4ǡȳɗAacuteĢĺa4ǡųɵǖͺΰθΒεͻɢĀȊȟɹ
ΑͺΰεKżļΥίΰɵPrPC PrPScʴŋ PrPScɳȞ˦UgraveoƂ
frac12Ξΰ͵εǰɢĀȊȟɹ 1ɮmacrɹ PRION-1 studyĊ^OtildeίεΉΧtʕŠƮǵɊ˻ƮǵɊ[Ƨʶʕɹ 2űȵǹ 107
7Ξΰ͵εǰĤɎszligʨǰmiddot 457ETHǶĢ27wĢ187AacuteǪmiddot427UacuteţĢΞΰ͵εǰΑͺΰεƮǵɊ 38 7˻ƮǵɊ 69 7ƮǵƱ 1 Ť 300mg 2 yacute
ˣʈYacuteŶˣ78 7κ73ιλʈYacuteŶˣƣǠIumlǛΑͺΰεVŴɊ˻VŴɊˢEumlŪ˔DZăɾƞɹɎocircɓƗə˲Ugrave 20 7
97ǺǮ77sectƨg4ǡǽȠ ΜαΛαΊε˻ɵĢ˜dzfNMDA Ucirc1˦Ugrave4ǡųɛɸƽˤˠUcircŨˀˈ
ɵf28Creutzfeldt-JakobǰκCreutzfeldt-Jakob disease CJDλĤɎszligʨ13Oumlɵ
15Ξί΅ΣĻ 3ʙȉƗəƏƅ 2ɊˣųīocircǠĒocirc
ΡεΏεΤΰαΜͲθΏ pentosan polysulfate PPS13 ΟΘΰεȋ˓tAtildeȭˣʬĢɟɘǎˤȩǎƮǵǡpǖĬƄOumlĬƄdĒɛtimesVĻǶDZˆąo
ƂPPSɛtimesVłȼĻƱɮmacrAacuteǪmiddot CJDκvariant CJD vCJDλszlig^ɹ 4
Źˍ2004yacute 11Ų 2007yacute 3ŲǰmiddotǪΞΰ͵εǰ 11DZ7szlig PPSɛtimesVĻɹś7˟ŶǠIumlƗəǹcopyĖȐDZ7 5ƛograve
15 DZ7ɹvCJD ĤɎǠIumlŶˣεΏγξα vCJD Ɋŧ˟˅ɹ˥ʓŧ
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
ΏίͰͺΰεȮtǖ PrPSc ȸΦγͰΐƒ˂OacuteOtildetΞγθΆ[ʊ=
˅ 6ĬƄpǖOumlΐͰͺΰεǶDZˆąoƂǠIumlŶˣą˟ΐͰ
ͺΰεǰǹ PrPSc ȸΞΰ͵εĬƄĺaoƂŶĐɢĀȊȟ
ɹΜίεͰΈΰȊȟ 121 7Ξΰ͵εǰĤɎίεΉΧĻɊΞί΅ΣɊ
[ƏʎȸƂΐͰͺΰε 100mg ĻOacuteQɹǠIumlŶˣą˟oƂʙ 7
DZǘ˅ɹȷŐnot˶frac34ȷɖȨȷȨƆɹAtilde
ǠĒŖcurrenŧȍͳΚΎε
CJD ȷˈʙΦ͵ͺγθΓszligǺʬĢǺʬĢΦ͵ͺγθΓƮǵͺγΑΆΘΧΗαΞγ˓6ǡ 8ŧȍͳΚΎε
1 eacuteǢˊAring frac14ƷMɉ microɋAring iacute˴AgraveοͺγͰΌΜͲαΏηΫΝǰszlig Qinacrine Ʈǵ ǠnHȗNtilde
Ȋȟʫɾl˗ ˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 15 yacute
ăȿŁη[ĿȊȟfrac12Ű 2004 pp113-124
2 Collinge J Gorham M Hudson F et al Safety and efficacy of quinacrine in human prion disease (PRION-1 study)
a patient-preference trial Lancet Neurol 2009 8 334ndash344
3 Otto M Cepek L Ratzka P Doehlinger S Boekhoff I Wiltfang J et al Efficacy of flupirtine on cognitive function
in patients with CJD A double-blind study Neurology 2004 62 714-718
4 Todd NV Morrow J Doh-ura K Dealler S OHare S Farling P et al Cerebroventricular infusion of pentosan
polysulphate in human variant Creutzfeldt-Jakob disease J Infect 2005 50 394-396
5 Tsuboi Y Doh-Ura K Yamada Tet al Continuous intraventricular infusion of pentosan polysulfate clinical trial
against prion diseases Neuropathology 2009 29 632-636
6 De Luigi A Colombo L Diomede L Tettamanti M Welaratne A Giaccone G et al The efficacy of tetracyclines in
peripheral and intracerebral prion infection PLoS One 2008 3 e1888
7 Haiumlk S Marcon G Mallet A et al Doxycycline in Creutzfeldt-Jakob disease a phase 2 randomized double-blind
placebo-controlled trial Lancet Neurol 2014 13 150-158
8 Kojovic M Cordivari C Bhatia K Myoclonus disorders a practical approach for diagnosis and treatment Ther Adv
Neurol Disord 2011 4 47-62
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
S
bull ɈɔȨəċȎțDZȍiǶȌ[ƆȍęƋǽȃ13ǬǵǪȝǪXǪŎǪsȌȋȡsectǷȎȏŊoumlȌǹȊȉǯȞȊāŜǿȞǹȊǵŻŘȉǯȞǫ
bullhǷȎ13ȏǪAumlƀȎĶŴȊȊșȍŊȜuȍOǶMǰaeligcopyȅȡordmāǽȈǰǷ6ȡșȆȈǰȞǫȆȈǪāmicroplusmnȎĘYacuteȏǪsȚĎȎŭograveȚŜiumlȉȏȌǷǪ13ǬȎāĖŵȎŴĬȡāŜǽ
13ǬȎaeligcopyȅȡPtȁȀȍľǶŐȅĞǰȈřrȞǹȊȉǯȞǫ bull13ȏȃȊDzDǽǰ-yȉșucircecircǵcurrendegȉǶȈǰȞȊǾȜȟȞȊaeligcopyȅǵŐȅĞǷșȎȌȎȉǪĊȍƁǽȈaacuteĤȉ=ȌbȡƅǻȀȍȠǴȝȚǿǷȉșDzȞǹȊȏiǶȌāmicroplusmnȊȌ
ȞǫLĭbũoacuteȚĽZȎĵșEacuteăȉǯȞǫƛ
bullāĦĖmicroplusmnȍȏǪltǪĜŨĿǪāžĿǪltĒȶɛȱɏɕɚɘɛȩɛǪŶȩȥəȴɔəȭžĿȌȋȎűsup2ǵEacuteļȉǯȞǫƛ
bullĽɚxAgraveȍdzǰȈyenDZȇucircǵĉȠȟȞȊǶȏǪIJħĨltȍĚŧǿȞǹȊǵEcircȖǽǰǫƛ
ɜƦɝƛ 13ǬǵAumlƀȡǴǸȈŊŬȎ6ȉāĖȍucircecircȍŵǽȈǰǷŴĬȡāŜǽřrȞ 1-4ƛ
Aumlnot˶Ǿ˼ęǟǹέͺğħbrvbarOacuteĬɣǒ
Ūˣȷˈɣ[iOumlƨłŜǟi
łɧǹęǟǹˋě 2-3yacuteĊ^AumlğƿȼƾbǯĤǽdĥɭĔ
ęǟŕōǽƔęǟǹpoundʵǂʊƼΞΰ͵εǰǾ˼ĤɎUacuteţƨł
ǟʊęǟǹˋěˈțʃOgrave˱ĤɎUacuteţʋɱȄŒɐG
ƨłǟʊqpoundʊƬʭğɭƿOtildeʙɑŵ
ġǰƨPĚʂƨłŜǟŪˣĚʂųǡ
wǵɎszligDŽʽęǟŕōĤɎUacuteţDŽOtilde
ʙǟʊIacutesȐŵɻ-1 Ξΰ͵εǰĤɎηUacuteţɧǹʃęǟǹǘư7ɻ-2Uacuteţʂŵ7Ȑ
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 -
D a 1 2 4
RV
ǒǶDZġˁǰǘ˅ɹȬȓDZǘʙȉDZszligȬȓǹέͺpŎ
ędz
ƈŹǹƮǵƱszligȻŵĬ
ǶDZʒŠŪˣAtildeǘưĹŌDZǘĦtʒŠĒƮǰʻacircżĤɎƣʺȉȬȓǹέͺʒŠ
szligĬį
UacuteţǘưszligęǟǹˋěŪˣťΛθΐĤɎDZǘ˅ɹǠęǟǹOacuteOtildeǘĭ
ǰǘ˅ɹUacuteţĤɎīĠǫˀszligęǟǹɭdz Ξΰ͵εǰˤȉʦǟʊx[ʋ˶wǵΈΜʋpszligɫȠįDŽĬ
ęǟǹ3ɽǘĭwǵɎshyszligƓDŽǠfrac34ʃĉğɫȠ
ǵmiddotwǵƗˤʴ˨ŊƊszligįDŽ oslashaumlǯĤĨfrac12ʰ˶ʊǯĤΨͶΒ΄ΧƿOacute
ŧȍordfɫȠχχƨł
ȑ)shyDʃʅɀszligğ
ĢΞΰ͵εǰUacuteţˌę˒
ĤɎġǘưUacuteţȷǁǹnot˶Ǿ˼frac34OacuteΏβ
ĤɎʧȠfrac34ΏβȬȓǹʩĿ
ĤɎĒUacuteţƾędzħbrvbar
RV
bullΞΰ͵εǰĬƄĢszligOacutebull țăĬƄĢOacuteƿbullʧĬƄˤOacutebullĬƄ˥ĤɎǪķĝĬbullwǵɎshyĬƄĢˤˈhěʜʊDʃćʮğɫȠĝĬ
bullʜʊDʃshyszligĤɎǘư͵θΞεʖΏβ
bullǘưȉʇţshyĽĬƄĢOacuteszligĤɎUacuteţƨ6ʝŧszligΏβ
bullȌɠșƎĬƄordfUacuteţΞΰ͵εǰǶDZğǑĞĬĨbullĶɺĬƄfrac34ΏβOacuteğbull ĢΞΰ͵εǰUacuteȮVŸǶDZɎˌǯĤɛAcircȗĶɺĬƄ˥wǵɎƳī+OacuteĝĬ
ǘưƓęǟǘưwǵɎɧǹʃǘưȉĤɎUacuteţ
szligǟʊƾĤɎUacuteţɣʳǘưǘưȉɣ[
ĠĬɣ[Ǫƨłȉʅ˕
yumlfrac34ΫΝǰΤθΏΔΏδθͺĊɎlaquo1ƵpkˈĤɎUacuteţīʦ
ʟƅfrac12ʃȠfrac34ƨłȉųīɋ
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 - -
D b RT aT 1 2 4
ɡŠĒĀcȎltĒĽȍzǽȈɢƛ
I ĤɎġnjǰǘĦtszligUacuteţʝŧΜʹγθ
II ǰ˨Q1ǰƨszligǟʊƾˈhĬƄ˥Uacuteţʳ1ǹηȬȓǹʩĿiquestȶ
IIIʒŠǰ˨űŶP˨ǑǟĒĨfrac12Sųi
ɡ]ȚBĂ8ěȍzǽȈɢƛ
IVPǰ˨iquestƜ
V Ȝaă`ǡ˱ǰǘAacutetġˁĶȼˁɹƜ
VIwugraveȂʧugraveszligěOtildeβΠαɤĨfrac12Ŋ8Řɕɹ
ɜƧɝƛ bregȎampuȏāmicroplusmnȊȌȞ 1-4
ǘưǘưĹŌĬƨłɰȇ
AtildeĔΞίͰΗθfrac34ĴŪˣǯĤˤƞȍx[Ĩfrac12˳
ʋɱAumlęǟŕōʒŠĊ^ȄǸʝŧ
Pfrac34ăʖ˰ŪȍʙĚʂě2
ăʝŧǬpoundszligTHORNȦŵĊɎlaquo1ΫΝǰΤθΏΔΏδ
θͺȴ˶ǰĨfrac12΅εΈθͰΏΞΰ͵εǰȊȟǝͰΏĨfrac12
ųǡκɻ-3λ
D S
3 Ξΰ͵εǰȊȟǝθΧΡθ httpprionuminjpindexhtml
4 ˶ǰĨfrac12΅εΈθǯĤĨfrac12θΧΡθ Ξΰ͵εǰκςλͺγͰΌΜͲαΏηΫΝǰκCJDλ httpwwwnanbyouorjpentry80
Ξΰ͵εǰκσλͽαΏΥεηΏγͰίθηΪͰεͶθǰκGSSλ httpwwwnanbyouorjpentry88
Ξΰ͵εǰκτλɥƣĢUacuteţĢȅDZκFFIλ httpwwwnanbyouorjpentry51
5 Ξΰ͵εǰĤɎUacuteţŢΞΰ͵εǰΰͺOacuteŢͶͱε΅ΰεͻ κΞΰ͵εǰȊȟǝθΧΡθVλ httpprionuminjpprioncounselinghtml
6 ΫΝǰΤθΏΔΏδθͺκŤŹĊɎlaquo1λ httpwwwcjdnetjp
7 CJD Support NetworkκɮmacrĊɎlaquo1λ httpwwwcjdsupportnet
8 Creutzfeldt-Jakob Disease FoundationκȫmacrĊɎlaquo1λ httpwwwcjdfoundationorg
1 ǢźŬɮIcircοĤɎηUacuteţszligęǟȑ)ǹŕōκȣςˏΞΰ͵εǰν0οΙΏηΞΰ͵εǰοȣ21ȡλοǠnH
ȗNtildeȊȟʫɾl˗˶ƮĢǯĤMŴȊȟƐΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκɁλο
Ξΰ͵εǰˆǶĢͱͰαĬƄDZο˗Zǔφ2010οpp213-219ο
2 ǢźŬɮIcircοCǟǹpoundęǟŕōκȣ 11ȡλ Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteǔλνǠnHȗNtildeȊ
ȟʫɾl˗η˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝκampȊȟ
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
Ɏ ƩNjɮƴɁ˵ʪampɎ eumlɋλο2008 pp123-140κΞΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅ
ȊȟǝθΧΡθΉͱεγθΐəλhttpprionuminjpguidelineindexhtml
3 ǢźŬɮIcirc Ξΰ͵εǰĤɎUacuteţŢͶͱε΅ΰεͻŤŹɢĀ 2007 65 1447-1453
4 ǢźŬɮIcirc Ξΰ͵εǰĤɎηUacuteţęǟȑ)ǹΤθΏΧszligɍYacute ǠnHȗNtildeȊȟʫɾl˗
˶ƮĢǯĤMŴȊȟƐ Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟ uumlIJ 17 yacuteăȿŁη[ĿȊ
ȟfrac12ŰκȊȟɻɎ ƩNjɮƴλ 2006 pp99-111
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
Ξΰ͵εǰĬƄ˥Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝ Ξ ΰ ͵ ε ǰ Ĭ Ƅ ˥ ͷ Ͱ ΐ ί Ͱ ε κ 2008 yacute ă ǔ λ R ˢ
κhttpprionuminjpguidelineindexhtmlλͷͰΐίͰεordmĬƄ˥ɹňCcedil ŹͷͰΐίͰεΞΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλǽƚȴ
Ξΰ͵εǰĬƄ˥ͷͰΐίͰεκ2008yacuteăǔλ
ȣ 1ȡ ȿʢ ȣ 2ȡ ˻ʁǹwǵɹǐȂʧͼ ȣ 3ȡ Ξΰ͵εljɯ
ȣ 4ȡ CJD ŧĤɎΖͰΰͺĶĸǡĶɺumlƋȥszligYǟŢƱ ȣ 5ȡ ƼtȨVʅ˝Əƅ
ȣ 6ȡ ɛȓȷAcircȗĶɺ ȣ 7ȡ ƠȗƮǵ ȣ 8ȡ ȆȗƮǵ
ȣ 9ȡ ŜċAcircȗƮǵ ȣ 10ȡ eƏηǰǟƔŹ4ɿ
ȣ 11ȡ Cǟǹpoundęǟŕō ȣ 12ȡ ȑ)ǹpound
˛ ΖͰΰͺĶĸǡĶɺumlT) CJDƚĬƄ˥ CJDƚĬƄ˥ˤszligȧƏʎ)
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
Ξΰ͵εǰˆǶĢͱͰαĬƄDZˤʟƅȊȟǝΞΰ͵εǰθΠͰίεĬ
Ƅ˥ˤʟƅȊȟǝȊȟǝΞΰ͵εǰˆǶĢͱͰαĬƄDZ[Icircǰĭ
ʊŧηƮǵƱˢǶˤȊȟǝθΧΡθκhttpprionuminjpindexhtmlλˢʑŹ
ͷͰΐίͰεȜͷͰΐίͰεűšȊȟIJƂŊ8
)-
Ξΰ͵εǰǗOtildeǯĤƮǵȊȟƐwǵȺɎʓ ǤʡDZ7ʐɛɚ
ƽƏƅΞΰ͵εɷǸˌIcircƏƅoslashŵDZ7ĬƄDZƱordmegraveZƮwʒǵ
ŕōoslashŵDZ7 CJD θΠͰίεIgrave )Ƿ˛sup2sup1 CJD θΠͰίεIgrave
ˑˉĂȃ CJD ĿĊagraveˠwʟƅɹĒCJD θΠͰίεIgrave )ʒŠƏʎȸƂƮwfrac12
Ξΰ͵εǰʒŠȥκǰǟNtildeǹŇȲλŕōĚʂŪʐ CJD θΠͰίεIgrave )qccedilǿʠ
˃ȹL υ CJDθΠͰίεIgrave )qccedil macrȠȊȟˢǶƱ macrȠȬȓηȓȷwǵȊȟ΅εΈθ
187-8551 ŽˑatildeuumloumlatildentildeŽǦ4-1-1
TELυ042-341-2712ΉͰΫαͰε3131 FAXυ042-346-1762
E-mail prion-ncnpncnpgojp
httpprionuminjpsurveyindexhtml
)-
Ξΰ͵εǰǶDZĒΞΰ͵εǰœˤʁǹwǵɹǐɹfrac34
w
ǵɹǐɹwǵumlT6ǡwǵɹǐɹDZ7Ƿ˛ĒȷˈǼʅ
˃ȹL υ CJD ͰεΎεΏIgrave )qccedil ŽAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ɛȓȷAcircȗNtilde
113-8655 ŽˑŝvŹː 7-3-1
TELυ03-5800-8848Ǿˀ FAXυ03-5800-8849
httpprionuminjpsurveyindexhtml
Ξΰ͵εǰǧIʒŠŕōɹ
˃ȹL υ eumlĶwȗAumlNtilde wƠɵȿȊȟĴ ʯȎfrac34MRIʒŠηǰĭȊȟˏˠ 020-8505 eumlĶȃǻecircoumlV1319-1
TELυ019-651-5111 36603733 FAXυ019-622-1091 ˃ȹL υ ėiacuteAumlNtildeAumlNtilde˨ ΟαΗͰ͵ͰͳεȊȟˏ ŗaacuteɀȗNtilde[˕ŗaacuteɀʒŠȗ 770-8503 ėiacuteȃėiacuteoumlɴŹǦ 3-18-15
TELυ088-633-9283 FAXυ088-633-7174
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 ( -
e E13 04 ) ɛɚƽƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ˟icircAumlNtildewNtildeˏ ĬƄ[IcircʊſNtildeŘtimes
852-8523 ˟icircȃ˟icircoumlsup3Ź1-12-4 ˟icircAumlNtildewNtildeˏ ordmȏƌ8F TELυ095-819-7059 FAXυ095-819-7060 E-mail nagasakiprionyahoocojp
httpwwwmednagasaki-uacjpmmicmbprionindexhtml
Ξΰ͵εɷǸˌIcircƏƅΞΰ͵εǰʒŠŕō
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2-1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
e
WȸɛȶɅͱͳΈεΝγΏƱǪuacuteΞΰ͵εɷǸųǑmiddotʒŠɹ
˃ȹL υ ŽuAumlNtildeAumlNtilde˨wNtildeȮȊȟȗ ǰĭȓȷNtilde[˕
980-8575 Oslashcedilȃouml˹ɱvũˬǦ 2 -1 TELυ022-717-8147 FAXυ022-717-8148
E-mail kitamotomedtohokuacjp httpwwwprionmedtohokuacjpgeneticanalysishtml
l
Ξΰ͵εǰυhttpwwwnanbyouorjpentry3665
Ξΰ͵εǰκλͺγͰΌΜͲαΏηΫΝǰκCJDλ CJDǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry80
CJDʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry240 CJD FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry385
Ξΰ͵εǰκλͽαΏΥεηΏγͰίθηΪͰεͶθǰGSSGSSǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry88 GSSʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry247
GSS FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry386
Ξΰ͵εǰκλɥƣĢUacuteţĢȅDZFFIFFIǰƨʊʝκɧ`ǡɎλυhttpwwwnanbyouorjpentry51 FFIʒŠϊƮǵѢκwǵĔɎλυhttpwwwnanbyouorjpentry213
FFI FAQκʬpoundcopyȦλυhttpwwwnanbyouorjpentry387
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization
2 (( -
C
BSE bovine spongiform encephalopathy
CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob
CWD chronic wasting disease
dCJD dura mater graft associated Creutzfeldt-Jakob disease
Creutzfeldt-Jakob
DWI diffusion weighted image
FFI fatal familial insomnia
GSS Gerstmann-Straumlussler-Scheinker disease Gerstmann-Straumlussler-Scheinker
PPS pentosan polysulfate
PrP prion protein
PrPc cellular prion protein
PrPSc scrapie prion protein
PSD periodic synchronous discharge
RT-QUIC real-time quaking-induced conversion
TSE transmissible spongiform encephalopathies
vCJD variant Creutzfeldt-Jakob disease Creutzfeldt-Jakob
WHO World Health Organization