Article
A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2026
Willemse Sean W, Demaegd Koen C, Van Eijk Ruben P A, Van Damme Philippe, Harrington Elizabeth, Harms Matthew B, Shneider Neil A, Van Rheenen Wouter, Veldink Jan H, Van Den Berg Leonard H, Van Es Michael A
Abstract excerpt
The c.166C > T p.(Pro56Ser) or P56S mutation in the VAPB gene was initially identified as a cause of motor neuron disease in Brazil in a large extended pedigree comprising >1,500 individuals including more than 200 cases. This VAPB mutation gives rise to three phenotypes: late-onset spinal muscular atrophy, classical ALS with bulbar involvement, pyramidal signs and rapid disease progression, and atypical ALS with...
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