TY - JOUR
T1 - The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease
AU - Higgins, Abigail Louise
AU - Toffoli, Marco
AU - Mullin, Stephen
AU - Lee, Chiao Yin
AU - Koletsi, Sofia
AU - Avenali, Micol
AU - Blandini, Fabio
AU - Schapira, Anthony H.V.
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
UR - https://pearl.plymouth.ac.uk/context/pms-research/article/1942/viewcontent/nmt_2021_0032.pdf
U2 - 10.2217/nmt-2021-0032
DO - 10.2217/nmt-2021-0032
M3 - Article
SN - 1758-2024
VL - 11
SP - 451
EP - 458
JO - Neurodegenerative Disease Management
JF - Neurodegenerative Disease Management
IS - 6
ER -