Reference : Insufficient Evidence for Pathogenicity of SNCA His50Gln (H50Q) in Parkinson's Disease
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
Insufficient Evidence for Pathogenicity of SNCA His50Gln (H50Q) in Parkinson's Disease
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit >]
Blauwendraat, Cornelis [Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.]
International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium []
Neurobiology of Aging
Yes (verified by ORBilu)
New York
[en] Parkinson’s disease ; SNCA ; H50Q
[en] 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.
no OA
FnR ; FNR7490270 > Rudi Balling > COURAGE-PD > COmprehensive Unbiased Risk factor Assessment for Genetics and Environment in Parkinson‘s Disease > 01/03/2014 > 28/02/2017 > 2013

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