Article
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Sept 2012
Abramzon Yevgeniya, Johnson Janel O, Scholz Sonja W, Taylor J P, Brunetti Maura, Calvo Andrea, Mandrioli Jessica, Benatar Michael, Mora Gabriele, Restagno Gabriella, Chiò Adriano, Traynor Bryan J
Abstract excerpt
We recently reported that mutations in the valosin-containing protein (VCP) gene are a cause of 1%-2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of VCP in 701 sporadic ALS cases. Three pathogenic variants (p.Arg159Cys, p.Asn387Thr, and p.R662C) were found in three U.S. cases, each of whom presented with...
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