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Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

Abstract：

: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 Escorial diagnostic criteria. Our data indicate that VCP mutations may underlie apparently sporadic ALS but account for <1% of this form of disease.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Abramzon Y,Johnson JO,Scholz SW,Taylor JP,Brunetti M,Calvo A,Mandrioli J,Benatar M,Mora G,Restagno G,Chiò A,Traynor BJ

doi

10.1016/j.neurobiolaging.2012.04.005

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

2231.e1-2231.e6

issue

9

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(12)00234-5

journal_volume

33

pub_type

杂志文章

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