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

被引：73

作者：

Abramzon, Yevgeniya ^{[1
]}

Johnson, Janel O. ^{[1
]}

Scholz, Sonja W. ^{[2
,3
]}

Taylor, J. P. ^{[4
]}

Brunetti, Maura ^{[5
]}

Calvo, Andrea ^{[6
]}

Mandrioli, Jessica ^{[7
,8
]}

Benatar, Michael ^{[9
]}

Mora, Gabriele ^{[10
]}

Restagno, Gabriella ^{[5
]}

Chio, Adriano ^{[6
]}

Traynor, Bryan J. ^{[1
,11
]}

机构：

[1] NIA, Neuromuscular Dis Res Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] NIA, Mol Genet Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[3] Georgetown Univ, Dept Neurosci, Washington, DC USA

[4] St Jude Childrens Res Hosp, Dept Dev Neurobiol, Memphis, TN 38105 USA

[5] ASO OIRM S, Dept Clin Pathol, Mol Genet Unit, Turin, Italy

[6] Univ Turin, Dept Neurosci, Turin, Italy

[7] S Agostino Estense Hosp, Dept Neurosci, Modena, Italy

[8] Univ Modena, I-41100 Modena, Italy

[9] Univ Miami, Dept Neurol, Miami, FL USA

[10] ALS Ctr, Salvatore Maugeri Fdn, Milan, Italy

[11] Johns Hopkins Univ, Dept Neurol, Brain Sci Inst, Baltimore, MD 21218 USA

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 09期

基金：

美国国家卫生研究院;

关键词：

Amyotrophic lateral sclerosis; Valosin-containing protein; Mutations; Sporadic disease; INCLUSION-BODY MYOPATHY; FRONTOTEMPORAL DEMENTIA; PAGET-DISEASE; BONE; FUS; ALS; TDP-43;

D O I：

10.1016/j.neurobiolaging.2012.04.005

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

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. (C) 2012 Elsevier Inc. All rights reserved.

引用

页数：6

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