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Volume 6, Number 3, June 2020Neurology.org/NG
A peer-reviewed clinical and translational neurology open access journal
ARTICLE
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort e415
ARTICLE
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort e440
ARTICLE
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy e428
ARTICLE
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases e434
Academy OfficersJames C. Stevens, MD, FAAN, PresidentOrly Avitzur, MD, MBA, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerRalph L. Sacco, MD, MS, FAAN, Past President
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Neurology® Genetics (eISSN 2376-7839) is an open access journal publishedonline for the American Academy of Neurology, 201 Chicago Avenue,Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 CiticorpDrive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at TwoCommerce Square, 2001 Market Street, Philadelphia, PA 19103. Productionoffices are located at 351 West Camden Street, Baltimore, MD 21201-2436.© 2020 American Academy of Neurology.
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A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG
Neurology® Genetics
EditorStefan M. Pulst, MD, Dr med, FAAN
Deputy EditorMassimo Pandolfo, MD, FAAN
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Neurology® Journals
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TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG
The Helix
e438 The Helix: Editorial ChangesS.M. Pulst
Open Access
Editorial
e436 Intronic pentanucleotide expansion in the replicationfactor 1 gene (RFC1) is amajor cause of adult-onsetataxiaS.M. Boesch and M.A. Nance
Open Access
Articles
e414 Neuraxial dysraphism in EPAS1-associated syndromedue to improper mesenchymal transitionJ.S. Rosenblum, A.J. Cappadona, D.P. Argersinger, Y. Pang, H.Wang,M.A. Nazari, J.P. Munasinghe, D.R. Donahue, A. Jha,J.G. Smirniotopoulos, M.M. Miettinen, R.H. Knutsen, B.A. Kozel,Z. Zhuang, K. Pacak, and J.D. Heiss
Open Access
e415 Neurologic outcomes in Friedreich ataxia: Study ofa single-site cohortM. Pandolfo
Open Access
e416 Polygenic risk scores of several subtypes of epilepsiesin a founder populationC. Moreau, R.-M. Rebillard, S. Wolking, J. Michaud, F. Tremblay,A. Girard, J. Bouchard, B. Minassian, C. Laprise, P. Cossette, andS.L. Girard
Open Access
e417 Clinical and pathologic phenotype of a large familywith heterozygous STUB1 mutationM.O. Mol, J.G.J. van Rooij, E. Brusse, A.J.M.H. Verkerk, S. Melhem,W.F.A. den Dunnen, P. Rizzu, C. Cupidi, J.C. van Swieten, andL. Donker Kaat
Open Access
e418 Acute encephalopathy after head trauma in a patientwith a RHOBTB2 mutationA.C.S. Knijnenburg, J. Nicolai, L.A. Bok, A. Bay, A.P.A. Stegmann,M. Sinnema, and M. Vreeburg
Open Access
e420 Cerebellar ataxia, neuropathy, hearing loss, andintellectual disability due to AIFM1 mutationM. Pandolfo, M. Rai, G. Remiche, L. Desmyter, and I. Vandernoot
Open Access
e424 TGM6 L517W is not a pathogenic variant forspinocerebellar ataxia type 35Y. Chen, D. Wu, B. Luo, G. Zhao, and K. Wang
Open Access
e425 Expanding the phenotypic and molecular spectrum ofRNA polymerase III–related leukodystrophyS. Perrier, L. Gauquelin, C. Fallet-Bianco, M.K. Dishop,M.A. Michell-Robinson, L.T. Tran, K. Guerrero, L. Darbelli, M. Srour,K. Petrecca, D.L. Renaud, M. Saito, S. Cohen, S. Leiz, B. Alhaddad,T.B. Haack, I. Tejera-Martin, F.I. Monton, N. Rodriguez-Espinosa,D. Pohl, S. Nageswaran, A. Grefe, E. Glamuzina, and G. Bernard
Open Access
e426 Phenotypic variability in chorea-acanthocytosisassociated with novel VPS13A mutationsV. Niemela, A. Salih, D. Solea, B. Lindvall, J. Weinberg,G. Miltenberger, T. Granberg, A. Tzovla, L. Nordin, T. Danfors,I. Savitcheva, N. Dahl, and M. Paucar
Open Access
e428 Mutations in the m-AAA proteases AFG3L2and SPG7 are causing isolated dominant opticatrophyM. Charif, A. Chevrollier, N. Gueguen, C. Bris, D. Goudenege,V. Desquiret-Dumas, S. Leruez, E. Colin, A. Meunier, C. Vignal,V. Smirnov, S. Defoort-Dhellemmes, I. Drumare Bouvet,C. Goizet, M. Votruba, N. Jurkute, P. Yu-Wai-Man, F. Tagliavini,L. Caporali, C. La Morgia, V. Carelli, V. Procaccio, X. Zanlonghi,I. Meunier, P. Reynier, D. Bonneau, P. Amati-Bonneau, andG. Lenaers
Open Access
e430 Genotyping single nucleotide polymorphisms forallele-selective therapy in Huntington diseaseD.O. Claassen, J. Corey-Bloom, E.R. Dorsey, M. Edmondson,S.K. Kostyk, M.S. LeDoux, R. Reilmann, H.D. Rosas, F. Walker,V. Wheelock, N. Svrzikapa, K.A. Longo, J. Goyal, S. Hung, andM.A. Panzara
Open Access
e440 Prevalence of RFC1-mediated spinocerebellar ataxiain a North American ataxia cohortD. Aboud Syriani, D. Wong, S. Andani, C.M. De Gusmao, Y. Mao,M. Sanyoura, G. Glotzer, P.J. Lockhart, S. Hassin-Baer, V. Khurana,C.M. Gomez, S. Perlman, S. Das, and B.L. Fogel
Open Access
Clinical/Scientific Notes
e423 Biallelic LINE insertion mutation in HACD1 causingcongenital myopathyF. Al Amrani, C. Gorodetsky, L.-N. Hazrati, K. Amburgey,H.D. Gonorazky, and J.J. Dowling
Open Access
e432 Expanding the phenotype ofMTOR-related disordersand the Smith-Kingsmore syndromeA. Elizondo-Plazas, M. Ibarra-Ramırez, A. Garza-Baez, andL.E. Martınez-de-Villarreal
Open Access
Views and Reviews
e434 Cerebral autosomal dominant arteriopathy withsubcortical infarcts and leukoencephalopathyrevisited: Genotype-phenotype correlations of allpublished casesG. Xiromerisiou, C. Marogianni, K. Dadouli, C. Zompola,D. Georgouli, A. Provatas, A. Theodorou, P. Zervas, C. Nikolaidou,S. Stergiou, P. Ntellas, M. Sokratous, P. Stathis, G.P. Paraskevas,A. Bonakis, K. Voumvourakis, C. Hadjichristodoulou,G.M. Hadjigeorgiou, and G. Tsivgoulis
Open Access
Cover imageEx vivo Micro-CT of EPAS1-gain-of-function Transgenic MouseModel demonstrating faulty ossification of the posterior elements ofthe cervical and thoracic spine, specifically the spinous process; thetransverse processes are similarly hypodense and there isa dysraphism of T1.See e414
TABLE OF CONTENTS Volume 6, Number 3, June, 2020 Neurology.org/NG
2020;6; Neurol Genet 6 (3)
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