A common polymorphism in SNCA is associated with accelerated motor decline in GBA-Parkinson's disease.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Camacho, Marta
Winder-Rhodes, Sophie
Liu, Ganqiang
Scherzer, Clemens R
Abstract
A growing number of genetic susceptibility factors have been identified for Parkinson’s disease (PD). The combination of inherited risk variants is likely to affect not only risk of developing PD but also its clinical course. Variants in the GBA gene are particularly common, being found in approximately 5 to 10% of patients, and they lead to more rapid disease progression1. However, the effect of concomitant genetic risk factors on disease course in GBA-PD is not known.
Description
Keywords
Lewy body, Parkinson's disease, movement disorders, neurogenetics, Disease Progression, Genotype, Glucosylceramidase, Humans, Male, Mutation, Parkinson Disease, Polymorphism, Single Nucleotide, alpha-Synuclein
Journal Title
J Neurol Neurosurg Psychiatry
Conference Name
Journal ISSN
0022-3050
1468-330X
1468-330X
Volume Title
91
Publisher
BMJ
Publisher DOI
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All rights reserved
Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Medical Research Council (MR/R007446/1)
Wellcome Trust (203151/Z/16/Z)
Medical Research Council (MC_PC_12009)
Medical Research Council (MC_PC_17230)
Medical Research Council (MR/R007446/1)
Wellcome Trust (203151/Z/16/Z)
Medical Research Council (MC_PC_12009)
Medical Research Council (MC_PC_17230)
The CamPaIGN study has received financial support from the Wellcome Trust, the Medical Research Council, Parkinson’s UK and the Patrick Berthoud Trust. CHWG is supported by an RCUK/UKRI Innovation Fellowship awarded by the Medical Research Council. RAB is supported by the Wellcome Trust Stem Cell Institute (Cambridge). TBS received financial support from the Cure Parkinson’s Trust. The study is also supported by the National Institute for Health Research (NIHR) Cambridge
Biomedical Research Centre Dementia and Neurodegeneration Theme (reference number 146281). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. CRS' work is supported in part by NIH grants R01AG057331, U01NS100603, R01AG057331, and the American Parkinson Disease Association. Illumina MEGA Chip genotyping was made possible by a philanthropic investment from Dooley LLC (to Brigham & Women's Hospital and CRS).