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

Research paper by Jose Miguel JM Bras, Rita Joao RJ Guerreiro, Maria Helena MH Ribeiro, Cristina C Januario, Ana A Morgadinho, Catarina Resende CR Oliveira, Luis L Cunha, John J Hardy, Andrew A Singleton

Indexed on: 09 Sep '05Published on: 09 Sep '05Published in: Movement Disorders


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.