Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

@article{Bugiani1999FrontotemporalDA,
  title={Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.},
  author={Orso Bugiani and Jill R. Murrell and Giorgio Giaccone and Masato Hasegawa and Giovanni Ghigo and Massimo Tabaton and Michela Morbin and Alessandra Primavera and Francesca Carella and Claudio Solaro and Marina Grisoli and Mario Savoiardo and Maria Grazia Spillantini and Fabrizio Tagliavini and Michel Goedert and Bernardino Ghetti},
  journal={Journal of neuropathology and experimental neurology},
  year={1999},
  volume={58 6},
  pages={667-77}
}
The tau gene has been found to be the locus of dementia with rigidity linked to chromosome 17. Exonic and intronic mutations have been described in a number of families. Here we describe a P301S mutation in exon 10 of the tau gene in a new family. Two members of this family were affected. One individual presented with frontotemporal dementia, whereas his son has corticobasal degeneration, demonstrating that the same primary gene defect in tau can lead to 2 distinct clinical phenotypes. Both… CONTINUE READING
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