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G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
Author(s) -
Bras Jose Miguel,
Guerreiro Rita Joao,
Ribeiro Maria Helena,
Januario Cristina,
Morgadinho Ana,
Oliveira Catarina Resende,
Cunha Luis,
Hardy John,
Singleton Andrew
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20682
Subject(s) - lrrk2 , parkinson's disease , disease , cohort , portuguese , medicine , movement disorders , degenerative disease , cohort study , psychiatry , pediatrics , philosophy , linguistics
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