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

• Autor(es): Brás, José Miguel ; Guerreiro, Rita João ; Ribeiro, Maria Helena ; Januário, Cristina ; Morgadinho, Ana ; Oliveira, Catarina Resende ; Cunha, Luís ; Hardy, John ; Singleton, Andrew
• Data: 2005
• Identificador Persistente: http://hdl.handle.net/10316/8415
• Origem: Estudo Geral - Universidade de Coimbra
• Tipo de Documento: Artigo
• Idioma: Inglês

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. © 2005 Movement Disorder Society http://dx.doi.org/10.1002/mds.20682