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A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS Teaching Video NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

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Presentation on theme: "A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS Teaching Video NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology."— Presentation transcript:

1 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

2 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

3 Mastrangelo et al © 2013 American Academy of Neurology

4 Mastrangelo et al © 2013 American Academy of Neurology

5 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

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