G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.

• Autor(es): Brás, JM ; Guerreiro, RJ ; Ribeiro, MH ; Januário, C ; Morgadinho, A ; Oliveira, CR ; Hardy, J ; Singleton, A
• Data: 2005
• Identificador Persistente: http://hdl.handle.net/10400.4/464
• Origem: Repositório do Centro Hospitalar e Universitário de Coimbra
• Assunto(s): Predisposição Genética para Doença; Doença de Parkinson; Mutação
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): RIHUC

Descrição

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.