Journal
NEUROBIOLOGY OF AGING
Volume 30, Issue 9, Pages 1515-1517Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2007.11.016
Keywords
Case control study; Genetic association; Parkinson disease
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Funding
- Intramural program of the National Institute on Aging
- National Institutes of Health
- Department of Health and Human Services
- Fundacao para a Ciencia e Tecnologia [SFRH/BD/29647/2006, SFRH/BD/27442/2006]
- Fundação para a Ciência e a Tecnologia [SFRH/BD/29647/2006, SFRH/BD/27442/2006] Funding Source: FCT
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Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intron/exon boundaries, of the glucocerebrosidase gene, in a total of 230 patients and 430 controls. We have found an increased number of Parkinson disease patients presenting mutations in GBA when compared to controls. These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease. (C) 2007 Elsevier Inc. All rights reserved.
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