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

Brás, JM; Guerreiro, RJ; Ribeiro, MH; Januário, C; Morgadinho, A; Oliveira, CR; Hardy, J; Singleton, A

http://hdl.handle.net/10400.4/464

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Abstract(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.