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Article

The molecular genetics of familial Creutzfeldt-Jakob disease in France.

Journal of the neurological sciences - 1 Oct 1991

Brown P, Goldfarb L G, Cathala F, Vrbovská A, Sulima M, Nieto A, Gibbs C J, Gajdusek D C

Abstract excerpt

Five French families with Creutzfeldt-Jakob disease (CJD) were found to have either of 2 different point mutations (at codons 178 and 200) in the amyloid precursor gene (PRNP) on chromosome 20. The ancestry of these and other CJD families outside of France suggests that the codon 178 mutation had a northern European origin, while the codon 200 mutation originated in central Europe and the Mediterranean basin....

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Source

Identifiers

PMID: 1757800
DOI: 10.1016/0022-510x(91)90151-v

Genes

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.

Related research

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Research trail→

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The molecular genetics of familial Creutzfeldt-Jakob disease in France.PMID 1757800Read ↗

Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.Semantic proximity Read ↗

Genetic analysis of Creutzfeldt-Jakob disease and related disorders.Semantic proximity Read ↗

Molecular genetic studies of Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.Semantic proximity Read ↗

Genetic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.Semantic proximity Read ↗

The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease.Semantic proximity Read ↗

An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.Semantic proximity Read ↗

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.Semantic proximity Read ↗

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

Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene.Semantic proximity Read ↗

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.Semantic proximity Read ↗

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