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Article

Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.

Neurology - 1 Apr 1992

Kretzschmar H A, Kufer P, Riethmüller G, DeArmond S, Prusiner S B, Schiffer D

Abstract excerpt

We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.

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Identifiers

PMID: 1348851
DOI: 10.1212/wnl.42.4.809

Genes

GSS

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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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Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.PMID 1348851Read ↗

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