Source:http://linkedlifedata.com/resource/pubmed/id/18718805
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2009-4-20
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pubmed:abstractText |
We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1873-5126
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
273-6
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pubmed:meshHeading |
pubmed-meshheading:18718805-Aged,
pubmed-meshheading:18718805-DNA Mutational Analysis,
pubmed-meshheading:18718805-Family Health,
pubmed-meshheading:18718805-Female,
pubmed-meshheading:18718805-France,
pubmed-meshheading:18718805-Genetic Predisposition to Disease,
pubmed-meshheading:18718805-Glycine,
pubmed-meshheading:18718805-Humans,
pubmed-meshheading:18718805-Male,
pubmed-meshheading:18718805-Middle Aged,
pubmed-meshheading:18718805-Mutation,
pubmed-meshheading:18718805-Neuropsychological Tests,
pubmed-meshheading:18718805-Olfaction Disorders,
pubmed-meshheading:18718805-Parkinson Disease,
pubmed-meshheading:18718805-Protein-Serine-Threonine Kinases,
pubmed-meshheading:18718805-Serine
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pubmed:year |
2009
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pubmed:articleTitle |
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
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pubmed:affiliation |
INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013 Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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