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Article

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

Journal of the neurological sciences - 1 Oct 1992

Brown P, Gálvez S, Goldfarb L G, Nieto A, Cartier L, Gibbs C J, Gajdusek D C

Abstract excerpt

We have found the codon 200Lys mutation in 6 Chilean CJD families, including a family in the rural case cluster in Chillán. Thus, all 3 of the known clusters of CJD, in Slovakia, Libyan-born Israeli Jews, and Chile, are linked to the presence of the same mutation. The phenotypic features of the disease in these families are similar to those reported for other clustered or individual families elsewhere in the...

Topics

Adult
Aged
Amyloid beta-Protein Precursor
Brain
Brain Chemistry
Chromosomes, Human, Pair 20
Codon
Creutzfeldt-Jakob Syndrome
Female
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Pedigree

Phenotype

Spleen

Source

Identifiers

PMID: 1469441
DOI: 10.1016/0022-510x(92)90133-6

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1469441-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.PMID 1469441Read ↗

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