VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.

  • van Es M
  • Koppers M
  • van Rheenen W
  • et al.
ISSN: 1558-1497
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Abstract

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.Copyright 2012 Elsevier Inc. All rights reserved.

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van Es, M. A., Koppers, M., van Rheenen, W., Medic, J., Schelhaas, H. J., van der Kooi, A. J., … van den Berg, L. H. (2012). VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiology of Aging, 33(12), 2950.e1–4. Retrieved from http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=reference&D=medl&NEWS=N&AN=22878164

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