Sangam: A Confluence of Knowledge Streams

The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease

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dc.creator Higgins, AL
dc.creator Toffoli, M
dc.creator Mullin, S
dc.creator Lee, C-Y
dc.creator Koletsi, S
dc.creator Avenali, M
dc.creator Blandini, F
dc.creator Schapira, AHV
dc.date 2022-03-08T11:02:56Z
dc.date 2022-03-08T11:02:56Z
dc.date 2021-12
dc.date.accessioned 2022-05-26T21:09:42Z
dc.date.available 2022-05-26T21:09:42Z
dc.identifier 1758-2032
dc.identifier http://hdl.handle.net/10026.1/18914
dc.identifier 10.2217/nmt-2021-0032
dc.identifier 1758-2032
dc.identifier.uri http://localhost:8080/xmlui/handle/CUHPOERS/228966
dc.description <jats:p> 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. </jats:p>
dc.format 451 - 458
dc.language en
dc.language en
dc.publisher Future Science Group
dc.relation ISSN:1758-2032
dc.relation E-ISSN:1758-2032
dc.rights 2022-03-09
dc.rights Not known
dc.title The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease
dc.type Journal Article


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