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

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. Green open access

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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.

Type: Article
Title: Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2017.12.012
Publisher version: https://doi.org/10.1016/j.neurobiolaging.2017.12.0...
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Parkinson's disease, SNCA, H50Q, His50Gln
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Pre-clinical and Fundamental Science
URI: http://discovery.ucl.ac.uk/id/eprint/10053067
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