Journal
PARKINSONISM & RELATED DISORDERS
Volume 14, Issue 1, Pages 58-62Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2007.06.010
Keywords
Parkinson's disease; glucocerebrosidase mutations
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Objective: To evaluate the association between parkinsonism and mutations in the glucocerebrosidase gene (GBA) in Brazilian patients. Methods: We searched for three GBA common mutations (N370S, L444P and G377S) in 65 Brazilian patients affected by PD with disease onset before the age of 55 and compared the results to 267 age- and sex-matched controls. Results: GBA mutations were detected at a significantly higher frequency among Parkinson's disease patients (2/65 = 3%), when compared to the control group (0/267): P = 0.0379. Conclusion: These results provide further evidence for GBA mutations being a possible hereditary risk factor for PD. (C) 2007 Elsevier Ltd. All rights reserved.
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