Article
Molecular pathology of fatal familial insomnia.
Brain pathology (Zurich, Switzerland) - 1 Jul 1998
Parchi P, Petersen R B, Chen S G, Autilio-Gambetti L, Capellari S, Monari L, Cortelli P, Montagna P, Lugaresi E, Gambetti P
Abstract excerpt
Fatal familial insomnia (FFI) is linked to a mutation at codon 178 of the prion protein gene, coupled with the methionine codon at position 129, the site of a methionine/valine polymorphism. The D178N mutation coupled with the 129 valine codon is linked to a subtype of Creutzfeldt-Jakob disease (...
Topics
- Brain
- Creutzfeldt-Jakob Syndrome
- Genotype
- Humans
- Molecular Biology
- Prion Diseases
- Prions
- Thalamus