Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

Mariana Spitz; Roberto Rozenberg; Lygia da Veiga Pereira; Egberto Reis Barbosa

doi:10.1016/j.parkreldis.2007.06.010

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

Parkinsonism Relat Disord. 2008;14(1):58-62. doi: 10.1016/j.parkreldis.2007.06.010. Epub 2007 Aug 20.

Authors

Mariana Spitz¹, Roberto Rozenberg, Lygia da Veiga Pereira, Egberto Reis Barbosa

Affiliation

¹ Movement Disorders Division, Department of Neurology, University of São Paulo Medical School, São Paulo, Brazil. marianaspitz@hotmail.com

PMID: 17703984
DOI: 10.1016/j.parkreldis.2007.06.010

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age of Onset
Aged
Brazil
DNA Mutational Analysis
Female
Genetic Predisposition to Disease*
Glucosylceramidase / genetics*
Humans
Male
Middle Aged
Mutation
Parkinson Disease / enzymology*
Parkinson Disease / genetics*

Substances

Glucosylceramidase