[Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease].

Article

[Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease].

Revue neurologique - 1 Jan 1991

Tranchant C, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter J M

Abstract excerpt

We report the clinical progression of the Gerstmann-Sträussler-Scheinker disease (GSS) in a family of Alsatian origin. The age of onset and duration of evolution were variable. The clinical picture became more complex over the generations: isolated dementia in the first generations, then, more re...

Topics

Chromosome Mapping
Codon
Female
Gerstmann-Straussler-Scheinker Disease
Humans
Male
Middle Aged
Mutation
Pedigree
Polymorphism, Genetic
Prions

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