@article{bae50147f8654fc79213825954c00219,
title = "Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease",
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.",
keywords = "H50Q, His50Gln, Parkinson's disease, SNCA",
author = "{International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium} and Cornelis Blauwendraat and Kia, {Demis A.} and Lasse Pihlstr{\o}m and Ziv Gan-Or and Suzanne Lesage and Gibbs, {J. Raphael} and Jinhui Ding and Alcalay, {Roy N.} and Sharon Hassin-Baer and Pittman, {Alan M.} and Janet Brooks and Connor Edsall and Chung, {Sun Ju} and Stefano Goldwurm and Mathias Toft and Claudia Schulte and Dena Hernandez and Singleton, {Andrew B.} and Nalls, {Mike A.} and Alexis Brice and Sonja Scholz and Wood, {Nicholas W.} and Noyce, {Alastair J.} and Noyce, {Alastair J.} and Arianna Tucci and Kia, {Demis A.} and Gavin Charlesworth and Manuela Tan and Henry Houlden and Morris, {Huw R.} and Helene Plun-Favreau and Peter Holmans and John Hardy and Bras, {Jose M.} and John Quinn and Mok, {Kin Y.} and Kimberley Billingsley and Wood, {Nicholas W.} and Patrick Lewis and Rita Guerreiro and Ruth Lovering and Ogalla, {Raquel Duran} and Lea R{\textquoteright}bibo and Mina Ryten and Valente, {Enza Maria} and Valente, {Enza Maria} and Simona Petrucci and Simona Petrucci and Monia Ginevrino and Monia Ginevrino",
year = "2018",
month = apr,
day = "1",
doi = "10.1016/j.neurobiolaging.2017.12.012",
language = "English",
volume = "64",
pages = "159.e5--159.e8",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
}