Category: Parkinson's Disease: Genetics
Objective: To investigate the prevalence of PD motor and non-motor clinical features and to characterize the prodromal phase of PD in a cohort of GD patients.
Background: Gaucher’s disease (GD) is a lysosomal storage disorder caused by biallelic GBA mutations. In addition, GBA mutations (monoallelic and biallelic) are the major genetic risk factor for Parkinson’s disease (PD). The presence of a GBA variant predicts earlier age at onset and a more rapid progression of motor and non-motor symptoms in PD patients. Although only a minority of GD patients develop PD, in-depth characterization of these patients may help to elucidate the mechanisms underlying this genetic association, identify new biomarkers and test neuroprotective therapies for PD.
Method: After signed informed consent, we evaluated one hundred eighteen GD patients. We performed a detailed neurological examination, administered clinical scales on non-motor symptoms (RBDSQ, BDI), and collected family history investigating the occurrence of PD in relatives.
Results: The mean age at examination of GD patients was 47,4 years. Twenty patients (17%) fulfilled PD diagnostic criteria. The mean age of onset of PD was 52 years. Considering GD patients older than 50 years, PD was diagnosed in sixteen patients (25%). Among GD patients without a diagnosis of PD, neurological examination detected parkinsonian features in thirty-seven (31%), including reduced upper limbs swinging, tremor, rigidity, and bradykinesia. Thirty-two patients (27%) complained RBD, eleven had constipation (9%), and twenty-four reported depression (20%). Thirty-seven patients (31%) had a positive family history of PD. For thirty GD patients a longitudinal neurological evaluation was performed.
Conclusion: The prevalence of PD among GD patients is significantly higher compared to the general population. A quart of the GD cohort showed non-motor symptoms of PD. The GD population may represent an valuable cohort to study the prodromal phase of PD and to identify potential biomarkers and neuroprotective therapies.
To cite this abstract in AMA style:
E. Monfrini, I. Trezzi, MC. Malaguti, A. Tessitore, A. Barbato, P. Tirelli, F. Spagnolo, MD. Cappellini, E. Cassinerio, I. Motta, F. Carubbi, F. Nascimbeni, L. Borin, A. Di Fonzo. Motor and non-motor features of Parkinson’s disease in a large cohort of Gaucher’s disease patients [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/motor-and-non-motor-features-of-parkinsons-disease-in-a-large-cohort-of-gauchers-disease-patients/. Accessed November 21, 2024.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/motor-and-non-motor-features-of-parkinsons-disease-in-a-large-cohort-of-gauchers-disease-patients/