A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)

@article{Yasuda2000ANM,
  title={A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)},
  author={Minoru Yasuda and Junichi Takamatsu and I. D'Souza and R. A. Crowther and Toshio Kawamata and Masato Hasegawa and Hiroshi Hasegawa and Maria Grazia Spillantini and Satoshi Tanimukai and Parvoneh Poorkaj and L Varani and Gabriele Varani and Takeshi Iwatsubo and Michel Goedert and Dr. med. Georg Schellenberg and Chikako Tanaka},
  journal={Annals of neurology},
  year={2000},
  volume={47 4},
  pages={422-9}
}
Exonic and intronic mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here, we describe a new mutation, consisting of a C-to-T transition at position +12 of the intron following exon 10 of the tau gene in the Kumamoto pedigree, showing frontotemporal dementia. The mutation caused a marked reduction in melting temperature of the tau exon 10-splicing regulatory element RNA and a large increase in exon 10-containing transcripts. Brain tissue… CONTINUE READING