Association between Parkinson`s disease and glucocerebrosidase mutations in Brazil


Autoria(s): SPITZ, Mariana; ROZENBERG, Roberto; PEREIRA, Lygia da Veiga; BARBOSA, Egberto Reis
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2008

Resumo

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.

Identificador

PARKINSONISM & RELATED DISORDERS, v.14, n.1, p.58-62, 2008

1353-8020

http://producao.usp.br/handle/BDPI/21378

10.1016/j.parkreldis.2007.06.010

http://dx.doi.org/10.1016/j.parkreldis.2007.06.010

Idioma(s)

eng

Publicador

ELSEVIER SCI LTD

Relação

Parkinsonism & Related Disorders

Direitos

restrictedAccess

Copyright ELSEVIER SCI LTD

Palavras-Chave #Parkinson`s disease #glucocerebrosidase mutations #GAUCHER-DISEASE #CLINICAL-DIAGNOSIS #GENE #POPULATION #ACCURACY #LRRK2 #Clinical Neurology
Tipo

article

original article

publishedVersion