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

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

Research output: Contribution to journalArticle

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

Original languageEnglish
JournalNeurobiology of Aging
Volume33
Issue number9
DOIs
Publication statusPublished - Sep 2012

Keywords

  • Amyotrophic lateral sclerosis
  • Mutations
  • Sporadic disease
  • Valosin-containing protein

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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    Abramzon, Y., Johnson, J. O., Scholz, S. W., Taylor, J. P., Brunetti, M., Calvo, A., Mandrioli, J., Benatar, M., Mora, G., Restagno, G., Chiò, A., & Traynor, B. J. (2012). Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 33(9). https://doi.org/10.1016/j.neurobiolaging.2012.04.005