A common polymorphism in <i>SNCA</i> is associated with accelerated motor decline in <i>GBA</i>-Parkinson's disease.
Journal of neurology, neurosurgery, and psychiatry
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Stoker, T., Camacho, M., Winder-Rhodes, S., Liu, G., Scherzer, C. R., Foltynie, T., Barker, R., & et al. (2020). A common polymorphism in <i>SNCA</i> is associated with accelerated motor decline in <i>GBA</i>-Parkinson's disease.. Journal of neurology, neurosurgery, and psychiatry, 91 (6), 673-674. https://doi.org/10.1136/jnnp-2019-322210
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.
Humans, Parkinson Disease, Disease Progression, Glucosylceramidase, Genotype, Mutation, Polymorphism, Single Nucleotide, Male, alpha-Synuclein
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).
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Wellcome Trust (203151/Z/16/Z)
External DOI: https://doi.org/10.1136/jnnp-2019-322210
This record's URL: https://www.repository.cam.ac.uk/handle/1810/303526
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