ORCID

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.

DOI

10.2217/nmt-2021-0032

Publication Date

2021-09-30

Publication Title

Neurodegenerative Disease Management

Volume

11

Issue

6

First Page

451

Last Page

458

ISSN

1758-2024

Embargo Period

2022-03-09

Organisational Unit

Peninsula Medical School

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