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

Abigail Louise Higgins; Marco Toffoli; Stephen Mullin; Chiao Yin Lee; Sofia Koletsi; Micol Avenali; Fabio Blandini; Anthony H.V. Schapira

doi:10.2217/nmt-2021-0032

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

Abigail Louise Higgins
, Marco Toffoli
, Stephen Mullin
, Chiao Yin Lee
, Sofia Koletsi
, Micol Avenali
, Fabio Blandini
, Anthony H.V. Schapira

Peninsula Medical School

University College London
Peninsula Medical School, Universities of Exeter and Plymouth
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network
IRCCS Fondazione Istituto Neurologico Casimiro Mondino - Pavia
University of Pavia

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	451-458
Number of pages	0
Journal	Neurodegenerative Disease Management
Volume	11
Issue number	6
Early online date	20 Oct 2021
DOIs	https://doi.org/10.2217/nmt-2021-0032
Publication status	Published - Dec 2021

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title = "The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease",

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. ",

author = "Higgins, \{Abigail Louise\} and Marco Toffoli and Stephen Mullin and Lee, \{Chiao Yin\} and Sofia Koletsi and Micol Avenali and Fabio Blandini and Schapira, \{Anthony H.V.\}",

year = "2021",

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language = "English",

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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

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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/pms-research/943/

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 -

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

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