Higgins, AL;
Toffoli, M;
Mullin, S;
Lee, C-Y;
Koletsi, S;
Avenali, M;
Blandini, F;
(2021)
The remote assessment of parkinsonism supporting ongoing development of interventions in Gaucher disease.
Neurodegenerative Disease Management
10.2217/nmt-2021-0032.
(In press).
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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.
| Type: | Article |
|---|---|
| Title: | The remote assessment of parkinsonism supporting ongoing development of interventions in Gaucher disease |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.2217/nmt-2021-0032 |
| Publisher version: | https://doi.org/10.2217/nmt-2021-0032 |
| Language: | English |
| Additional information: | This work is licensed under the Creative Commons Attribution 4.0 License. To view a copy of this license, visit http://creativecomm ons.org/licenses/by/4.0/ |
| Keywords: | GBA, Gaucher disease, Parkinson's disease, glucocerebrosidase, parkinsonism, prodromal symptoms |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10137113 |
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