Objective: To determine the presence of prodromal markers of Parkinson’s disease (PD) in Gaucher disease (GD) patients and their parents.

Background: GBA gene mutation is the main genetic risk factor for PD. GD, an autosomal recessive lysosomal storage disorder caused by GBA gene mutations, implies that both parents of the GD contracted individuals carry GBA mutations. Consequently, patients of GD and their parents may face a higher risk of developing PD compared to the general population. Investigating prodromal symptoms of PD in populations with GBA mutations is of significant value, as it will enhance our understanding of GBA as an independent risk factor for PD. Few studies have investigated the prodromal symptoms of PD in people with GD and their parents.

Method: GD patients and parents were recruited from a China-based non-profit Gaucher Care Group, with confirmed GD diagnoses (clinical manifestations + GBA activity). From Nov/2022 to Apr/2023, demographic data and PD prodromal markers (according MDS prodromal criteria, including olfactory dysfunction, constipation, daytime somnolence, hypotension, erectile/urinary dysfunction, depression, RBD) were assessed via online interviews using Non-Motor Symptoms Scale/RBD Single Question Screen.

Results: A total of 51 subjects (average age 27.84±14.50 years) from China were included in this study, including 27 GD patients (17 males, 10 females, average age 20.67±14.36 years) and 24 GD patients’ parents (13 males, 11 females, average age 35.92±9.76 years). Of these 51 individuals, mutations were commonly seen in the encoding glycol_hydro 30 domain, followed by 30C domain and then the signal peptide domain. The most common GBA mutation site is c.1448T to C or A. Constipation (11, 21.6%), RBD (10, 19.6%), urinary dysfunction (8, 15.7%), depression (5, 9.8%), symptomatic hypotension (5, 9.8%), daytime somnolence (3, 5.9%), erectile dysfunction (2, 3.9%), and hyposmia (1, 2.0%) were observed in GD patients and their parents.

Conclusion: The c.1448T mutation is prevalent in Chinese GD patients and their parents. GD patients and their parents exhibit a higher prevalence of prodromal symptoms of PD.

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/prodromal-clinical-markers-of-parkinson-disease-in-patients-with-gaucher-disease-and-their-parents/