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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2005-11-7
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0885-3185
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1653-5
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:16149095-Adult,
pubmed-meshheading:16149095-Aged,
pubmed-meshheading:16149095-Aged, 80 and over,
pubmed-meshheading:16149095-Cohort Studies,
pubmed-meshheading:16149095-DNA Mutational Analysis,
pubmed-meshheading:16149095-Family Health,
pubmed-meshheading:16149095-Female,
pubmed-meshheading:16149095-Genetic Predisposition to Disease,
pubmed-meshheading:16149095-Glycine,
pubmed-meshheading:16149095-Humans,
pubmed-meshheading:16149095-Male,
pubmed-meshheading:16149095-Middle Aged,
pubmed-meshheading:16149095-Mutation,
pubmed-meshheading:16149095-Parkinson Disease,
pubmed-meshheading:16149095-Portugal,
pubmed-meshheading:16149095-Protein-Serine-Threonine Kinases,
pubmed-meshheading:16149095-Serine
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pubmed:year |
2005
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pubmed:articleTitle |
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
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pubmed:affiliation |
Neurology Service, Coimbra University Hospital, Coimbra, Portugal.
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pubmed:publicationType |
Journal Article,
Comparative Study
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