Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.

@article{Medori1992FatalFI,
  title={Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.},
  author={R. Medori and H J Tritschler and Amanda Leblanc and F. Villare and Valeria Manetto and Holly Chen and Ren-yu Xue and Suzanne Leal and Pasquale Montagna and Pietro Cortelli},
  journal={The New England journal of medicine},
  year={1992},
  volume={326 7},
  pages={
          444-9
        }
}
BACKGROUND We previously described two members of a family affected by an apparently genetically determined fatal disease characterized clinically by progressive insomnia, dysautonomia, and motor signs and characterized pathologically by severe atrophy of the anterior ventral and mediodorsal thalamic nuclei. Five other family members who died of this disease, which we termed "fatal familial insomnia," had broader neuropathologic changes suggesting that fatal familial insomnia could be a prion… CONTINUE READING
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