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Publicação
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
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Orientador(es)
Resumo(s)
LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice.
Descrição
Palavras-chave
Predisposição Genética para Doença Doença de Parkinson Mutação
Contexto Educativo
Citação
Mov Disord. 2005 Dec;20(12):1653-5