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Article

Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

American journal of human genetics - 1 Dec 1991

Collinge J, Poulter M, Davis M B, Baraitser M, Owen F, Crow T J, Harding A E

Abstract excerpt

The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The...

Topics

Adult
Base Sequence
Creutzfeldt-Jakob Syndrome
Female
Genes, Viral
Genetic Counseling
Gerstmann-Straussler-Scheinker Disease
Humans
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

PrPSc Proteins

Prions

Risk Factors

Viral Structural Proteins

Source

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Identifiers

PMID: 1684089
PMCID: PMC1686464

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1684089-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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