| Autor: |
Pimentel MM; Serviço de Genética Humana, Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, RJ, Brazil. pimentel@uerj.br, Moura KC, Abdalla CB, Pereira JS, de Rosso AL, Nicaretta DH, Campos M Jr, de Almeida RM, dos Santos JM, Bastos IC, Mendes MF, Maultasch H, Costa FH, Werneck AL, Santos-Rebouças CB |
| Jazyk: |
angličtina |
| Zdroj: |
Neuroscience letters [Neurosci Lett] 2008 Mar 05; Vol. 433 (1), pp. 17-21. Date of Electronic Publication: 2007 Dec 23. |
| DOI: |
10.1016/j.neulet.2007.12.033 |
| Abstrakt: |
Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (approximately 2%), and in three additional relatives. No carriers of this mutation were found among 250 control chromosomes. Clinically, all mutation-positive patients presented a typical PD phenotype and a good response to levodopa. Mutation segregation analysis in a large sibling showed incomplete penetrance of the p.G2019S. Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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