Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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Abstract
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 results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.
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