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Parkinsonism Relat Disord. 2015 Jul;21(7):804-7. doi: 10.1016/j.parkreldis.2015.04.028. Epub 2015 May 1.

Presenting symptoms of GBA-related Parkinson's disease.

Author information

1
Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
2
Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, St Leonards, NSW, Australia.
3
Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.
4
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
5
Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.
6
Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address: vladimir.s.kostic@gmail.com.

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.

KEYWORDS:

Glucocerebrosidase; Pain; Parkinson's disease; Presenting symptom

[Indexed for MEDLINE]

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