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

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,...

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Veröffentlicht in:Movement disorders 2005-12, Vol.20 (12), p.1653-1655
Hauptverfasser: Bras, Jose Miguel, Guerreiro, Rita Joao, Ribeiro, Maria Helena, Januario, Cristina, Morgadinho, Ana, Oliveira, Catarina Resende, Cunha, Luis, Hardy, John, Singleton, Andrew
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Sprache:eng
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Zusammenfassung: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
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20682