Mutational analysis of the VCP gene in Parkinson's disease

Elisa Majounie, Bryan J. Traynor, Adriano Chiò, Gabriella Restagno, Jessica Mandrioli, Michael G Benatar, J. Paul Taylor, Andrew B. Singleton

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Mutations in the valosin-containing protein gene (VCP) have been identified in neurological disorders (inclusion body myopathy-early Paget's disease of the bone-frontotemporal dementia and amyotrophic lateral sclerosis) and are thought to play a role in the clearance of abnormally folded proteins. Parkinsonism has been noted in kindreds with VCP mutations. Based on this, we hypothesized that mutations in VCP may also contribute to idiopathic Parkinson's disease (PD). We screened the coding region of the VCP gene in a large cohort of 768 late-onset PD cases (average age at onset, 70 years), both sporadic and with positive family history. We identified a number of rare single nucleotide changes, including a variant previously described to be pathogenic, but no clear disease-causing variants. We conclude that mutations in VCP are not a common cause for idiopathic PD.

Original languageEnglish
JournalNeurobiology of Aging
Volume33
Issue number1
DOIs
StatePublished - Jan 1 2012

Fingerprint

Parkinson Disease
Genes
Mutation
Osteitis Deformans
Inclusion Bodies
Parkinsonian Disorders
Muscular Diseases
Nervous System Diseases
Age of Onset
CDC48 protein
Nucleotides
Proteins

Keywords

  • Parkinson's disease
  • VCP

ASJC Scopus subject areas

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

Cite this

Majounie, E., Traynor, B. J., Chiò, A., Restagno, G., Mandrioli, J., Benatar, M. G., ... Singleton, A. B. (2012). Mutational analysis of the VCP gene in Parkinson's disease. Neurobiology of Aging, 33(1). https://doi.org/10.1016/j.neurobiolaging.2011.07.011

Mutational analysis of the VCP gene in Parkinson's disease. / Majounie, Elisa; Traynor, Bryan J.; Chiò, Adriano; Restagno, Gabriella; Mandrioli, Jessica; Benatar, Michael G; Taylor, J. Paul; Singleton, Andrew B.

In: Neurobiology of Aging, Vol. 33, No. 1, 01.01.2012.

Research output: Contribution to journalArticle

Majounie, E, Traynor, BJ, Chiò, A, Restagno, G, Mandrioli, J, Benatar, MG, Taylor, JP & Singleton, AB 2012, 'Mutational analysis of the VCP gene in Parkinson's disease', Neurobiology of Aging, vol. 33, no. 1. https://doi.org/10.1016/j.neurobiolaging.2011.07.011
Majounie, Elisa ; Traynor, Bryan J. ; Chiò, Adriano ; Restagno, Gabriella ; Mandrioli, Jessica ; Benatar, Michael G ; Taylor, J. Paul ; Singleton, Andrew B. / Mutational analysis of the VCP gene in Parkinson's disease. In: Neurobiology of Aging. 2012 ; Vol. 33, No. 1.
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