Ontology highlight
ABSTRACT:
SUBMITTER: Blauwendraat C
PROVIDER: S-EPMC5823280 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Blauwendraat Cornelis C Kia Demis A DA Pihlstrøm Lasse L Gan-Or Ziv Z Lesage Suzanne S Gibbs J Raphael JR Ding Jinhui J Alcalay Roy N RN Hassin-Baer Sharon S Pittman Alan M AM Brooks Janet J Edsall Connor C Chung Sun Ju SJ Goldwurm Stefano S Toft Mathias M Schulte Claudia C Hernandez Dena D Singleton Andrew B AB Nalls Mike A MA Brice Alexis A Scholz Sonja W SW Wood Nicholas W NW
Neurobiology of aging 20171220
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These re ...[more]