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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2006-5-1
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pubmed:abstractText |
We report here the genetic analysis of a newly ascertained kindred in which frontotemporal dementia occurs in an apparent autosomal dominant fashion, and in which a novel MAPT gene mutation co-segregates with disease. Sequencing the MAPT gene in affected individuals revealed a change in intron 9. This finding supports earlier studies on the effect of a splice-accepting element in inclusion of exon 10 in the MAPT transcript. This mutation sheds light on a novel mechanism by which over-expression of 4-repeat tau leads to disease. Based on our current findings, we propose a novel mechanism by which intronic mutations can lead to frontotemporal dementia.
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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 |
May
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pubmed:issn |
0969-9961
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
401-3
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16503405-Animals,
pubmed-meshheading:16503405-DNA Mutational Analysis,
pubmed-meshheading:16503405-Dementia,
pubmed-meshheading:16503405-Disease Progression,
pubmed-meshheading:16503405-Exons,
pubmed-meshheading:16503405-Female,
pubmed-meshheading:16503405-Frontal Lobe,
pubmed-meshheading:16503405-Genetic Predisposition to Disease,
pubmed-meshheading:16503405-Genetic Testing,
pubmed-meshheading:16503405-Humans,
pubmed-meshheading:16503405-Introns,
pubmed-meshheading:16503405-Male,
pubmed-meshheading:16503405-Middle Aged,
pubmed-meshheading:16503405-Mutation,
pubmed-meshheading:16503405-Nerve Tissue Proteins,
pubmed-meshheading:16503405-PC12 Cells,
pubmed-meshheading:16503405-Pedigree,
pubmed-meshheading:16503405-RNA Splice Sites,
pubmed-meshheading:16503405-Rats,
pubmed-meshheading:16503405-Regulatory Elements, Transcriptional,
pubmed-meshheading:16503405-Temporal Lobe,
pubmed-meshheading:16503405-tau Proteins
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pubmed:year |
2006
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pubmed:articleTitle |
A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.
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pubmed:affiliation |
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD 20892, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural,
Research Support, N.I.H., Intramural
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