A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.

doi:10.1212/wnl.42.10.1864

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Article

A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.

Neurology - 1 Oct 1992

Bosque P J, Vnencak-Jones C L, Johnson M D, Whitlock J A, McLean M J

Abstract excerpt

Several mutations in the prion protein (PrP) gene are associated with familial Creutzfeldt-Jakob disease (FCJD). We describe a family in which five members in three generations have had FCJD. The proband and some descendants of the affected members carried an abnormal PrP gene allele. This allele...

Topics

Adult
Alleles
Base Sequence
Brain
Codon
Creutzfeldt-Jakob Syndrome
Gene Deletion
Gene Rearrangement
Genes
Humans
Male
Middle Aged
Molecular Sequence Data
Nerve Tissue Proteins
Pedigree
Polymerase Chain Reaction
PrPSc Proteins
Prions

Source

Open in PubMed

Identifiers

PMID: 1357594
DOI: 10.1212/wnl.42.10.1864

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1357594-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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