The rate of GBA mutations is about right in this cohort of sporadic PD subjects... perhaps surprising not to see some more differences...
Parkinsonism Relat Disord. 2015 May 1. pii: S1353-8020(15)00194-7. doi: 10.1016/j.parkreldis.2015.04.028. [Epub ahead of print]
Kresojević N, Janković M, Petrović I, Kumar KR, Dragašević N, Dobričić V, Novaković I, Svetel M, Klein C, Pekmezović T, Kostić VS.
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.
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