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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2002-12-10
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pubmed:abstractText |
The tau N279K mutation was identified in four separately ascertained families in the United States, Japan, and France and in another recently discovered affected individual in Japan. The authors analyzed genealogical and clinical records and DNA samples. Average age at onset was 43 years; survival time was 7 years. All families exhibited similar clinical features, with parkinsonism, dementia, and supranuclear palsy uniformly seen. A founder effect indicated by a shared disease haplotype was seen only in two Japanese families. The N279K mutation can develop independently in different parts of the world.
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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 |
AIM
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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 |
0028-3878
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pubmed:author |
pubmed-author:ArimaKK,
pubmed-author:BakerMM,
pubmed-author:DelisleM-BMB,
pubmed-author:GhettiBB,
pubmed-author:HutsonL RLR,
pubmed-author:KobayashiTT,
pubmed-author:KomuraKK,
pubmed-author:KunoSS,
pubmed-author:MizunoYY,
pubmed-author:MurrellJ RJR,
pubmed-author:RascolOO,
pubmed-author:SoulagesXX,
pubmed-author:SunoharaNN,
pubmed-author:TsuboiYY,
pubmed-author:UittiR JRJ,
pubmed-author:WszolekZ KZK,
pubmed-author:YasudaMM
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pubmed:issnType |
Print
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pubmed:day |
10
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1791-3
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12473774-Adult,
pubmed-meshheading:12473774-Antiparkinson Agents,
pubmed-meshheading:12473774-Chromosomes, Human, Pair 17,
pubmed-meshheading:12473774-DNA,
pubmed-meshheading:12473774-Dementia,
pubmed-meshheading:12473774-Founder Effect,
pubmed-meshheading:12473774-France,
pubmed-meshheading:12473774-Frontal Lobe,
pubmed-meshheading:12473774-Humans,
pubmed-meshheading:12473774-Japan,
pubmed-meshheading:12473774-Levodopa,
pubmed-meshheading:12473774-Male,
pubmed-meshheading:12473774-Microsatellite Repeats,
pubmed-meshheading:12473774-Molecular Biology,
pubmed-meshheading:12473774-Mutation,
pubmed-meshheading:12473774-Nerve Degeneration,
pubmed-meshheading:12473774-Parkinson Disease,
pubmed-meshheading:12473774-Penetrance,
pubmed-meshheading:12473774-Temporal Lobe,
pubmed-meshheading:12473774-United States,
pubmed-meshheading:12473774-tau Proteins
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pubmed:year |
2002
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pubmed:articleTitle |
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
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pubmed:affiliation |
Mayo Clinic, Jacksonville, FL 32224, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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