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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 recently, a triad of pyramidal, pseudobulbar syndrome and dementia associated with symptoms indicating spread of damage...

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Source

Identifiers

PMID: 2063076

Genes

GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease].PMID 2063076Read ↗

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Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant.Semantic proximity Read ↗

Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V).Semantic proximity Read ↗

[A case of variant Gerstmann-Sträussler-Scheinker disease with the mutation of codon P105L].Semantic proximity Read ↗

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A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.Semantic proximity Read ↗

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