A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

Roneil Malkani, Ian D'Souza, Katrina Gwinn-Hardy, Gerard D. Schellenberg, John Hardy, Parastoo Momeni*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)401-403
Number of pages3
JournalNeurobiology of Disease
Volume22
Issue number2
DOIs
StatePublished - May 1 2006

Keywords

  • Frontotemporal dementia
  • MAPT
  • Splicing

ASJC Scopus subject areas

  • Neurology

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