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

Abigail Louise Higgins,Stephen Mullin,Sofia Koletsi,Anthony Hv Schapira,Fabio Blandini,Micol Avenali,Chiao-Yin Lee,Marco Toffoli

doi:10.2217/nmt-2021-0032

Abigail Louise Higgins, Stephen Mullin + Show 6 more

Open Access

https://doi.org/10.2217/nmt-2021-0032

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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 PDrelies 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.

Highlights

Challenges facing early diagnosis & intervention in Parkinson’s disease Parkinson’s disease (PD) is the second most common neurodegenerative disease, with increasing global prevalence which doubled between 1990 and 2016 [1,2]
One of the main challenges for developing neuroprotective therapies for PD is that clinical diagnosis relies upon the presentation of defined motor deficits, which manifest after the onset of neurodegeneration [9]
It will test the hypothesis that the presentation of prodromal features of PD for GBA can predict the onset of clinical diagnosis

Summary

Introduction

Challenges facing early diagnosis & intervention in Parkinson’s disease Parkinson’s disease (PD) is the second most common neurodegenerative disease, with increasing global prevalence which doubled between 1990 and 2016 [1,2]. One of the main challenges for developing neuroprotective therapies for PD is that clinical diagnosis relies upon the presentation of defined motor deficits, which manifest after the onset of neurodegeneration [9]. There is increasing interest in characterizing the prodromal features of PD, which may precede motor symptoms by several years [10]. Several latent features of PD’s clinical prodrome have been validated far, including REM sleep behaviour disorder (RBD), hyposmia, depression and anxiety, global cognitive impairment, constipation and autonomic dysfunction [11]. Studies such as PREDICT-PD, have optimized the validation of prodromal features of PD through remote assessment methods, enhancing recruitment and power, and allowing for repeated measures without inter-observer variation [12]

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