期刊
NEUROBIOLOGY OF AGING
卷 64, 期 -, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2017.12.012
关键词
Parkinson's disease; SNCA; H50Q; His50Gln
资金
- Intramural Research Program of the National Institutes of Health (National Institute of Neurological Disorders and Stroke, National Institute on Aging) [1ZIA-NS003154-2, Z01-AG000949]
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- AbbVie
- Avid
- Biogen
- Bristol-Myers Squibb
- Covance
- GE Healthcare
- Genentech
- GlaxoSmithKline
- Lilly
- Lundbeck
- Merck
- Meso Scale Discovery
- Pfizer
- Piramal
- Roche
- Servier
- Teva
- UCB
- Golub Capital
- Michael J. Fox Foundation
- Canadian Consortium on Neurodegeneration in Aging (CCNA)
- France Parkinson's Association
- NIH [K02NS080915]
- Parkinson's Disease Foundation
- EU Joint Programme-Neurodegenerative Disease Research (JPND)
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 a-synuclein functional investigations. Published by Elsevier Inc.
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