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

Bras Jose Miguel | Zendy; Guerreiro Rita Joao | Zendy; Ribeiro Maria Helena | Zendy; Januario Cristina | Zendy; Morgadinho Ana | Zendy; Oliveira Catarina Resende | Zendy; Cunha Luis | Zendy; Hardy John | Zendy; Singleton Andrew | Zendy

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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

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