Article
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
The New England journal of medicine - 13 Feb 1992
Medori R, Tritschler H J, LeBlanc A, Villare F, Manetto V, Chen H Y, Xue R, Leal S, Montagna P, Cortelli P
Abstract excerpt
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 tha...
Topics
- Adolescent
- Adult
- Base Sequence
- Brain Chemistry
- Codon
- Creutzfeldt-Jakob Syndrome
- Dysautonomia, Familial
- Endopeptidase K
- Genetic Linkage
- Humans
- Lod Score
- Middle Aged
- Molecular Sequence Data
- Mutation
- PrPSc Proteins