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 (R) Web site at www.neurology.org), 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</SUP)
Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis / Mastrangelo, Mario; P., Bernasconi; DE LISO, Paola; Caputi, Caterina; S., Bertino; Leuzzi, Vincenzo. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - 82:7(2014), pp. E61-E61. [10.1212/WNL.0000000000000117]
Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis
MASTRANGELO, Mario;DE LISO, PAOLA;CAPUTI, CATERINA;LEUZZI, Vincenzo
2014
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 (R) Web site at www.neurology.org), 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).(1I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
