Association between Parkinson`s disease and glucocerebrosidase mutations in Brazil
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
19/10/2012
19/10/2012
2008
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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 |
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 |