A common polymorphism in <i>SNCA</i> is associated with accelerated motor decline in <i>GBA</i>-Parkinson's disease.

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dc.contributor.authorStoker, Thomasen
dc.contributor.authorCamacho, Martaen
dc.contributor.authorWinder-Rhodes, Sophieen
dc.contributor.authorLiu, Ganqiangen
dc.contributor.authorScherzer, Clemens Ren
dc.contributor.authorFoltynie, Thomasen
dc.contributor.authorBarker, Rogeren
dc.contributor.authorWilliams-Gray, Carolineen
dc.date.accessioned2020-03-17T00:30:59Z
dc.date.available2020-03-17T00:30:59Z
dc.date.issued2020-06en
dc.identifier.issn0022-3050
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/303526
dc.description.abstractA 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.
dc.description.sponsorshipThe 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).
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.publisherBMJ
dc.rightsAll rights reserved
dc.rights.uri
dc.subjectHumansen
dc.subjectParkinson Diseaseen
dc.subjectDisease Progressionen
dc.subjectGlucosylceramidaseen
dc.subjectGenotypeen
dc.subjectMutationen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectMaleen
dc.subjectalpha-Synucleinen
dc.titleA common polymorphism in <i>SNCA</i> is associated with accelerated motor decline in <i>GBA</i>-Parkinson's disease.en
dc.typeArticle
prism.endingPage674
prism.issueIdentifier6en
prism.publicationDate2020en
prism.publicationNameJournal of neurology, neurosurgery, and psychiatryen
prism.startingPage673
prism.volume91en
dc.identifier.doi10.17863/CAM.50603
dcterms.dateAccepted2020-03-09en
rioxxterms.versionofrecord10.1136/jnnp-2019-322210en
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2020-06en
dc.contributor.orcidStoker, Thomas [0000-0001-5186-7630]
dc.contributor.orcidScherzer, Clemens R [0000-0002-0567-9193]
dc.contributor.orcidFoltynie, Thomas [0000-0003-0752-1813]
dc.contributor.orcidBarker, Roger [0000-0001-8843-7730]
dc.contributor.orcidWilliams-Gray, Caroline [0000-0002-2648-9743]
dc.identifier.eissn1468-330X
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idCambridge University Hospitals NHS Foundation Trust (CUH) (146281)
pubs.funder-project-idMRC (MR/R007446/1)
pubs.funder-project-idWellcome Trust (203151/Z/16/Z)
cam.orpheus.successWed Apr 15 08:35:31 BST 2020 - Embargo updated*
cam.orpheus.counter1*
rioxxterms.freetoread.startdate2020-04-02


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