Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.
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.


CONCLUSIONS
These results provide further evidence for GBA mutations being a possible hereditary risk factor for PD.
Spitz
Mariana
M
Movement Disorders Division, Department of Neurology, University of São Paulo Medical School, São Paulo, Brazil. marianaspitz@hotmail.com
Rozenberg
Roberto
R
Pereira
Lygia da Veiga
Lda V
Reis Barbosa
Egberto
E
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001938:Brazil; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000201:enzymology* / Q000235:genetics*
D005962:Glucosylceramidase