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

@article{Malkani2006AMM,
  title={A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.},
  author={Roneil Malkani and I. D'Souza and Katrina Gwinn-Hardy and Gerard D. Schellenberg and John S. Hardy and Parastoo Momeni},
  journal={Neurobiology of disease},
  year={2006},
  volume={22 2},
  pages={401-3}
}
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… CONTINUE READING