Familial frontotemporal dementia associated with the novel MAPT mutation T427M

@article{Giaccone2005FamilialFD,
  title={Familial frontotemporal dementia associated with the novel MAPT mutation T427M},
  author={Dr. G. Giaccone and Giacomina Rossi and Laura Farina and Gabriella Marcon and Giuseppe Di Fede and Marcella Catania and Michela Morbin and Leonardo Sacco and Orso Bugiani and Fabrizio Tagliavini},
  journal={Journal of Neurology},
  year={2005},
  volume={252},
  pages={1543-1545}
}
Sirs: Mutations of the microtubule-associated protein tau (MAPT) lead to a clinically heterogeneous disorder called “Frontotemporal dementia and parkinsonism linked to chromosome 17” (FTDP-17) [1–4]. The clinical phenotype is characterised by behavioural, cognitive and motor disturbances and the neuropathology by intracellular tau-positive inclusions involving neurons and glial cells [5]. More than 30 different mutations of the MAPT gene have been identified. Here we report the novel genetic… CONTINUE READING

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