Mutational analysis of the VCP gene in Parkinson%26apos;s disease

作者：Majounie Elisa^*; Traynor Bryan J; Chio Adriano; Restagno Gabriella; Mandrioli Jessica; Benatar Michael; Taylor J Paul; Singleton Andrew B

来源：Neurobiology of Aging, 2012, 33(1): 209.e1.

DOI：10.1016/j.neurobiolaging.2011.07.011

• VCP
• Parkinson%26apos
• s disease

Mutations in the valosin-containing protein gene (VCP) have been identified in neurological disorders (inclusion body myopathy-early Paget%26apos;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%26apos;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. Published by Elsevier Inc.

• 出版日期2012-1