VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

Marka van Blitterswijk, Michael A. van Es, Max Koppers, Wouter van Rheenen, Jelena Medic, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den Berg

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Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings provided evidence for an oligogenic basis of ALS. In our present study, we screened a cohort of 755 sporadic ALS patients, 111 familial ALS patients (97 families), and 765 control subjects of Dutch descent for mutations in vesicle-associated membrane protein B (VAPB). We have identified 1 novel VAPB mutation (p.V234I) in a familial ALS patient known to have a chromosome 9 open reading frame 72 (C9orf72) repeat expansion. This p.V234I mutation was absent in control subjects, located in a region with high evolutionary conservation, and predicted to have damaging effects. Taken together, these findings provide additional evidence for an oligogenic basis of ALS. (C) 2012 Elsevier Inc. All rights reserved
Original languageEnglish
Pages (from-to)2950.e1-2950.e4
JournalNeurobiology of aging
Issue number12
Publication statusPublished - 2012

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