Presenting symptoms of GBA-related Parkinson's disease

Background: Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD). Aim: To explore whether presenting symptoms differ between PD-GBA and sPD patients. Methods: Demographic and clinical features (including presenting symptoms) were collected for 578 PD patients. Sequence analysis was performed for exons 8-11 of the GBA gene for all participants. Results: 39 PD patients (6.7%) with GBA mutations were compared to 539 PD patients without them. Although no statistically significant differences were found regarding the presenting symptoms, we observed that pain was more frequently reported as an initial problem in the PD-GBA (10.3%) than in the sPD group (3.0%) (chi square p=0.039; logistic regression analysis OR=3.74; p=0.024). Conclusions: Overall, the presenting symptoms were similar in PD-GBA and sPD patients, with the exception that pain might be more frequent in PD-GBA. •Sequence analysis was performed for exons 8-11 of the GBA gene for 578 PD patients.•GBA mutations were found in 39 PD patients (6.7%) (PD-GBA).•Overall the presenting symptoms in PD-GBA and sPD did not differ.•Pain was more frequently reported as initial symptom in PD-GBA.