A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome.

doi:10.1212/wnl.41.5.681

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Article

A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome.

Neurology - 1 May 1991

Hsiao K K, Cass C, Schellenberg G D, Bird T, Devine-Gage E, Wisniewski H, Prusiner S B

Abstract excerpt

We present a patient with a mutation in the open reading frame of the prion protein gene (PRNP), which results in substitution of valine for alanine at codon 117. The patient is a member of a large American kindred of German descent with the telencephalic form of Gerstmann-Sträussler-Scheinker sy...

Topics

Alanine
Base Sequence
Codon
DNA, Viral
Female
Genetic Variation
Germany
Gerstmann-Straussler-Scheinker Disease
Humans
Male
Molecular Sequence Data
Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open Reading Frames

PrPSc Proteins

Prions

Telencephalon

United States

Valine

Source

Open in PubMed

Identifiers

PMID: 1674116
DOI: 10.1212/wnl.41.5.681

Genes

PRNP
GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1674116-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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