Abstract
A 15-year-old boy presented with a history of an early-onset spastic paraparesis that progressed toward a severe quadriparesis (video on the Neurology ® Web site at [www.neurology.org][1]), hypokinesia and bradykinesia, dysphagia, dysarthria, and hypomimia. Delayed motor evoked potentials and corticobulbar tract signal abnormality on brain MRI (figure) suggested corticospinal tract involvement. Cognitive functioning was preserved (Leiter-R IQ 86). ALS2 gene sequencing detected a homozygous c.2992C>T (p.R998X) substitution in exon 18 and confirmed the diagnosis of infantile ascending hereditary spastic paralysis (IAHSP).1 [1]: http://www.neurology.org/
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