Ontology highlight
ABSTRACT:
SUBMITTER: Abramzon Y
PROVIDER: S-EPMC3391327 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Abramzon Yevgeniya Y Johnson Janel O JO Scholz Sonja W SW Taylor J P JP Brunetti Maura M Calvo Andrea A Mandrioli Jessica J Benatar Michael M Mora Gabriele G Restagno Gabriella G Chiò Adriano A Traynor Bryan J BJ
Neurobiology of aging 20120508 9
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 progressive upper and lower motor neuron signs consistent with definite ALS by El Esco ...[more]