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Article

A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease.

Journal of neurology, neurosurgery, and psychiatry - 1 May 1997

Tanaka Y, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H

Abstract excerpt

OBJECTIVE: A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene. However, clinical features were not detailed and pathological studies were not done. Unusual clinical, neuroradiological, and pathological findings are reported for these patients. METHODS AND...

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Source

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Identifiers

PMID: 9153600
DOI: 10.1136/jnnp.62.5.454
PMCID: PMC486847

Genes

GSS

Variants

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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