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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
2010-10-8
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pubmed:abstractText |
Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) that co-segregates with disease manifestation (LOD = 3.15, ? = 0). Affected carriers have an early age at onset (48 ± 7.7 SD years) and are clinically asymmetric and levodopa responsive. The variant was absent in 623 Norwegian control subjects. Further screening of patients from the same population identified one additional affected carrier (1 of 692) with familial parkinsonism who shares the same haplotype. The mutation is located within the Roc domain of the protein and enhances GTP-binding and kinase activity, further implicating these activities as the mechanisms that underlie LRRK2-linked parkinsonism.
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pubmed:grant |
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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 |
Oct
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pubmed:issn |
1531-8257
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pubmed:author |
pubmed-author:AaslyJan OJO,
pubmed-author:CobbStephanie ASA,
pubmed-author:DachselJustus CJC,
pubmed-author:FarrerMatthew JMJ,
pubmed-author:FelicAmelaA,
pubmed-author:HaugarvollKristofferK,
pubmed-author:JohansenKrisztina KKK,
pubmed-author:KachergusJennifer MJM,
pubmed-author:LincolnSarah JSJ,
pubmed-author:NuttJohn GJG,
pubmed-author:PayamiHaydehH,
pubmed-author:RossOwen AOA,
pubmed-author:Soto-OrtolazaAlexandra IAI,
pubmed-author:ToftMathiasM,
pubmed-author:Vilariño-GüellCarlesC,
pubmed-author:WebberPhilip JPJ,
pubmed-author:WestAndrew BAB,
pubmed-author:WhiteLinda RLR,
pubmed-author:WiderChristianC
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pubmed:issnType |
Electronic
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pubmed:day |
15
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2156-63
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pubmed:dateRevised |
2011-10-17
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pubmed:meshHeading |
pubmed-meshheading:20669305-Aged,
pubmed-meshheading:20669305-Aged, 80 and over,
pubmed-meshheading:20669305-Asparagine,
pubmed-meshheading:20669305-Cell Line, Transformed,
pubmed-meshheading:20669305-Female,
pubmed-meshheading:20669305-Genetic Testing,
pubmed-meshheading:20669305-Guanosine Triphosphate,
pubmed-meshheading:20669305-Histidine,
pubmed-meshheading:20669305-Humans,
pubmed-meshheading:20669305-Male,
pubmed-meshheading:20669305-Middle Aged,
pubmed-meshheading:20669305-Mutation,
pubmed-meshheading:20669305-Norway,
pubmed-meshheading:20669305-Parkinson Disease,
pubmed-meshheading:20669305-Protein-Serine-Threonine Kinases,
pubmed-meshheading:20669305-Psychiatric Status Rating Scales,
pubmed-meshheading:20669305-Tomography, Emission-Computed, Single-Photon,
pubmed-meshheading:20669305-Transfection
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pubmed:year |
2010
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pubmed:articleTitle |
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
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pubmed:affiliation |
Department of Neurology, St. Olav's Hospital, Trondheim, Norway.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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