Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism.

Article

Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism.

American journal of human genetics - 1 Oct 1993

Medori R, Tritschler H J

Abstract excerpt

Fatal familial insomnia (FFI) is a disease linked to a GAC(Asp)-->AAC(Asn) mutation in codon 178 of the prion protein (PrP) gene. FFI is characterized clinically by untreatable progressive insomnia, dysautonomia, and motor dysfunctions and is characterized pathologically by selective thalamic atr...

Topics

Aged
Codon
DNA Mutational Analysis
Female
Heterozygote
Homozygote
Humans
Male
Middle Aged
Mutation
Nerve Tissue Proteins
Pedigree
Polymorphism, Genetic
PrPSc Proteins
Prion Diseases
Prions

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