Article
A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.
Neurobiology of disease - 1 May 2006
Malkani Roneil, D'Souza Ian, Gwinn-Hardy Katrina, Schellenberg Gerard D, Hardy John, Momeni Parastoo
Abstract excerpt
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...
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