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van Blitterswijk, Marka; van Es, Michael A; Koppers, Max; van Rheenen, Wouter; Medic, Jelena; Schelhaas, Helenius J; van der Kooi, Anneke J; de Visser, Marianne; Veldink, Jan H; van den Berg, Leonard H
Neurobiology of aging, 12/2012, Letnik: 33, Številka: 12Journal Article
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.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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