title: Mutational analysis of the VCP gene in Parkinson's disease.
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.
authors.affiliation: Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, MD, USA. Elisa.Majounie@nih.gov
authors.forename: Elisa
authors.initials: E
authors.lastname: Majounie
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Jessica
authors.initials: J
authors.lastname: Mandrioli
authors.forename: Michael
authors.initials: M
authors.lastname: Benatar
authors.forename: J Paul
authors.initials: JP
authors.lastname: Taylor
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000502:physiology; D000368:Aged; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000502:physiology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein