Objective:

To outline the protocol for an upcoming study aimed at describing the non-motor symptoms (NMS) in Parkinson’s disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations (PD-GBA+) and their progression over 2 years.

Background: GBA mutations are the primary risk factor for PD. Patients with PD-GBA+ typically experience an earlier onset of symptoms and a higher prevalence of both motor and NMS, including significant cognitive impairment. Despite this, existing studies on the subject are limited, often cross-sectional or with brief follow-up durations.

Method: This study is a prospective, case-control study comparing PD-GBA+ patients (cases) to PD patients without mutations in a 64-gene panel related to PD (controls). Participants will be monitored over a 2-year period with comprehensive motor and non motor evaluations every six months.

Results: The findings will encompass a quantitative and qualitative profile of motor and NMS, including posturography and computerized tests for reaction speed, comparing symptom evolution between PD-GBA+ and PD-GBA- groups.

Conclusion: PD-GBA+ patients are hypothesized to exhibit earlier onset and more severe NMS. Our study seeks to verify this hypothesis through rigorous statistical analysis, contributing to the existing knowledge base.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/prospective-and-controlled-glucocerebrosidase-related-parkinsons-disease-evaluation-of-non-motor-symptoms-progens-pd/