• 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, and Leonard H van den Berg.
• Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.
• Neurobiol. Aging. 2012 Dec 1; 33 (12): 2950.e1-4.

AbstractPreviously, 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.Copyright © 2012 Elsevier Inc. All rights reserved.

17 keywords...

hide…