A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS Teaching
Video NeuroImages Neurology Resident and Fellow Section 2013
American Academy of Neurology Mastrangelo et al
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VIGNETTE Male, 15 years; Clinical presentation: -Early onset
spastic paraparesis -> spastic quadriparesis ; -Hypo- and
bradykinesia; -Dysphagia, dysarthria, and hypomimia; -Preserved
cognitive functioning (Leiter-R IQ 86); -Delayed motor evoked
potentials; -MRI: Cortico-bulbar tract signal abnormality ;
Mastrangelo et al 2013 American Academy of Neurology
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Mastrangelo et al 2013 American Academy of Neurology
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Mastrangelo et al 2013 American Academy of Neurology
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Clinical course of infantile ascending hereditary spastic
paralysis Mastrangelo et al - Diagnosis: Infantile ascending
hereditary spastic paralysis (IAHSP). - ALS2 gene sequencing:
homozygous c.2992C>T (p.R998X) substitution in exon 18; - IAHSP
may be misdiagnosed as a static encephalopathy because of its slow
progression; - Children with slowly progressive quadriparesis
should be tested for ALS2 gene mutations. 2013 American Academy of
Neurology
