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.

• Authors: Yevgeniya Abramzon, Janel O Johnson, Sonja W Scholz, J P Taylor, Maura Brunetti, Andrea Calvo, Jessica Mandrioli, Michael Benatar, Gabriele Mora, Gabriella Restagno, Adriano Chiò, Bryan J Traynor
• Journal: Neurobiology of aging (Neurobiol Aging) Vol. 33 Issue 9 Pg. 2231.e1-2231.e6 (Sep 2012) ISSN: 1558-1497 [Electronic] United States
• PMID: 22572540 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Chemical References

• Cell Cycle Proteins
• Adenosine Triphosphatases
• VCP protein, human
• Valosin Containing Protein

Topics

• Adenosine Triphosphatases (genetics)
• Aged
• Amyotrophic Lateral Sclerosis (epidemiology, genetics, physiopathology)
• Cell Cycle Proteins (genetics)
• DNA Mutational Analysis
• Female
• Humans
• Italy
• Male
• Middle Aged
• Mutation (genetics)
• United States
• Valosin Containing Protein