Article
The phenotypic expression of different mutations in transmissible human spongiform encephalopathy.
Revue neurologique - 1 Jan 1992
Brown P
Abstract excerpt
Clinical, pathological, and experimental transmission characteristics are reviewed for each of the known mutations in the amyloid precursor gene (PRNP) associated with familial spongiform encephalopathies. All mutation groups show an earlier age at onset and longer duration of illness than sporad...
Topics
- Amyloid
- Codon
- Creutzfeldt-Jakob Syndrome
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Prion Diseases