Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini, Anthony Hv Schapira
{"title":"The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.","authors":"Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini, Anthony Hv Schapira","doi":"10.2217/nmt-2021-0032","DOIUrl":null,"url":null,"abstract":"<p><p>Mutations in <i>GBA</i> which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in <i>GBA</i> mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of <i>GBA</i> mutation carriers, to aid development of procedures for earlier diagnosis of PD.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.3000,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurodegenerative disease management","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/nmt-2021-0032","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/10/20 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 2
Abstract
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.
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