Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease - Sorbonne Université
Journal Articles Neurobiology of Aging Year : 2018

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Alexis Brice

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.

Dates and versions

hal-04558845 , version 1 (25-04-2024)

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Cornelis Blauwendraat, Demis Kia, Lasse Pihlstrøm, Ziv Gan-Or, Suzanne Lesage, et al.. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging, 2018, 64, pp.159.e5-159.e8. ⟨10.1016/j.neurobiolaging.2017.12.012⟩. ⟨hal-04558845⟩
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