Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms.

@article{Hutton2001MissenseAS,
  title={Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms.},
  author={Michael L. Hutton},
  journal={Neurology},
  year={2001},
  volume={56 11 Suppl 4},
  pages={S21-5}
}
Recent identification of mutations in the gene encoding the microtubule-associated protein tau in the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has demonstrated that tau dysfunction can lead to neurodegeneration. At least nine missense mutations and one deletion mutation (DeltaK280) have been identified in exons 9 through 13 that encode the microtubule-binding domains of tau. In addition, five mutations have been found close to the 5' splice site of… CONTINUE READING

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