Article
Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan.
Neurology - 1 Nov 1996
Nagayama M, Shinohara Y, Furukawa H, Kitamoto T
Abstract excerpt
Fatal familial insomnia (FFI), or familial selective thalamic degeneration with a mutation at codon 178 of the prion protein (PrP) gene, is a rapidly progressive autosomal dominant disease characterized by progressive insomnia, dysautonomia, and myoclonus. We report here the clinical and postmortem findings as well as genomic analysis in a first non-Western case with FFI. This patient also clinically had...
Topics
- Humans
- Japan
- Male
- Middle Aged
- Mutation
- Prion Diseases
- Prions