Article
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.
Neurology - 1 Mar 1996
Chapman J, Arlazoroff A, Goldfarb L G, Cervenakova L, Neufeld M Y, Werber E, Herbert M, Brown P, Gajdusek D C, Korczyn A D
Abstract excerpt
Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200...
Topics
- Amyloid
- Brain
- Codon
- Creutzfeldt-Jakob Syndrome
- Fatal Outcome
- Female
- Humans
- Middle Aged
- Mutation
- Prion Diseases
- Prion Proteins
- Prions
- Protein Precursors
- Sleep Initiation and Maintenance Disorders