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Article

A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype.

Neurology - 13 Jun 2000

Majtényi C, Brown P, Cervenáková L, Goldfarb L G, Tateishi J

Abstract excerpt

OBJECTIVE: To describe a rare phenotypic variant of P102L Gerstmann-Sträussler-Scheinker disease (GSS). BACKGROUND: Classic GSS is characterized by an early age at onset, prominent cerebellar signs with a slowly evolving dementia, and a neuropathology including multifocal PrP-positive plaques and variable but usually modest spongiform change. METHODS: Clinical, neuropathologic, immunohistochemical, and molecular...

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Source

Identifiers

PMID: 10851377
DOI: 10.1212/wnl.54.11.2133

Genes

GSS
PRNP

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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