Abstract
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.
| Original language | English |
|---|---|
| Journal | Parkinsonism and Related Disorders |
| Volume | 21 |
| Issue number | 7 |
| Pages (from-to) | 804-807 |
| Number of pages | 4 |
| ISSN | 1353-8020 |
| DOIs | |
| Publication status | Published - 01.07.2015 |
Funding
Nikola Kresojević, Melena Janković, Nataša Dragašević, Ivana Novaković and Tatjana Pekmezović report no disclosures. Kishore Kumar is supported by a Douglas Piper Fellowship from the Royal North Shore Hospital Scholarship Program, and a National Health and Medical Research Council (NHMRC) Early Career Fellowship. Igor Petrović received honoraria for lectures for Boehringer Ingelheim and GlaxoSmithKline. Marina Svetel received honoraria for lectures for GlaxoSmithKline, Novartis and Boeringer/Ingelheim. Christine Klein is Medical advisor to Centogene; the recipient of a career development award from the Hermann and Lilly Schilling Foundation and receives grants from the BMBF; the German Research Foundation; the European Community (FP7); intramural funds from the University of Luebeck. Vladimir Kostić is a member of Regional South-Eastern European Advisory Board of Boehringer Ingelheim and received honoraria for lectures for Novartis, Boehringer Ingelheim, Libra (Merck), Lundbeck and GlaxoSmithKline. This study was supported by a grant from the Ministry of Education and Science , Republic of Serbia (projects #ON 175090 to VK).
