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Parkinson’s Disease
Volume 2015, Article ID 916971, 10 pages
Research Article

Effect of GBA Mutations on Phenotype of Parkinson’s Disease: A Study on Chinese Population and a Meta-Analysis

1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
2Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
3Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan 410008, China
4State Key Laboratory of Medical Genetics, Changsha, Hunan 410008, China
5Parkinson’s Disease Center, Beijing Institute for Brain Disorders, Capital University of Medical Sciences, Beijing 100069, China

Received 10 June 2015; Revised 1 August 2015; Accepted 3 August 2015

Academic Editor: Eng-King Tan

Copyright © 2015 Yuan Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


GBA has been identified as a genetic risk factor for PD. Whether the clinical manifestations of PD patients with or without GBA mutations are different has still not reached a consensus. We firstly detected the GBA mutation L444P in 1147 Chinese PD patients and simultaneously evaluated their corresponding clinical data. Then we compared the phenotypes between 646 PD patients with GBA mutations and 10344 PD patients without GBA mutations worldwide through meta-analysis. Through the method of meta-analysis, there was significant difference in age at onset (MD = −3.10 [95% CI: −4.88, −1.32]), bradykinesia as an initial symptom (OR = 1.49 [95% CI: 1.15, 1.94]), having family history (OR = 1.50 [95% CI: 1.18, 1.91]), and dementia (OR = 3.21 [95% CI: 1.97, 5.24]) during the comparison between PD patients with and without GBA mutations. While, in the aspect of tremor as an initial symptom (OR = 0.81 [95% CI: 0.64, 1.03]), the severity of motor symptoms such as H-Y (MD = 0.06 [95% CI: −0.06, 0.17]) and UPDRS-III (MD = 1.61 [95% CI: −0.65, 3.87]) and having dyskinesia (OR = 1.60 [95% CI: 0.90, 2.84]) during the comparison between the two groups revealed no statistical differences. Our results suggested that the phenotypes of PD patients with GBA mutations are different from GBA noncarriers.