| Title: |
A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease:a case report |
| Authors: |
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.; Opleiding Neurologie; Brain; Projectafdeling ALS; Neurologen; Neuromuscular Disorders; Genetic Risks |
| Publication Year: |
2026 |
| Subject Terms: |
motor neuron disease; Netherlands; VAPB; Neurology; Clinical Neurology |
| Description: |
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 slow progression. Nearly all known cases originate from a single founder, with most cases outside of Brazil being related to this pedigree. However, there is one report of an independent German family with the same mutation on a different haplotype, indicating a second founder event. Here, we report the first Dutch patient with a P56S mutation in VAPB and motor neuron disease. Documenting rare genetic causes of MND and their natural history are of increasing importance in light of emerging gene-specific therapies. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
2167-8421 |
| Relation: |
https://dspace.library.uu.nl/handle/1874/467607 |
| Availability: |
https://dspace.library.uu.nl/handle/1874/467607 |
| Rights: |
info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.B137486A |
| Database: |
BASE |