Artículos de revistas
Association between Parkinson`s disease and glucocerebrosidase mutations in Brazil
Fecha
2008Registro en:
PARKINSONISM & RELATED DISORDERS, v.14, n.1, p.58-62, 2008
1353-8020
10.1016/j.parkreldis.2007.06.010
Autor
SPITZ, Mariana
ROZENBERG, Roberto
PEREIRA, Lygia da Veiga
BARBOSA, Egberto Reis
Institución
Resumen
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.