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Article

Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.

Human genetics - 1 Oct 1994

Salvatore M, Genuardi M, Petraroli R, Masullo C, D'Alessandro M, Pocchiari M

Abstract excerpt

Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of the amyloid protein PrP in the CNS. Two coding polymorphisms of the PrP gene (PRNP) are a methionine (Met) to valine (Val) change at codon 129, and a deletion in the octapeptide coding region. In the United Kingdom, homozygosity at codon 129 appears to be associated with a predisposition to develop...

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Identifiers

PMID: 7927332
DOI: 10.1007/BF00201596

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.

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Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.PMID 7927332Read ↗

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Mutations and polymorphisms in the prion protein gene.Semantic proximity Read ↗

Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population.Semantic proximity Read ↗

Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.Semantic proximity Read ↗

Neuropathologic variants of sporadic Creutzfeldt-Jakob disease and codon 129 of PrP gene.Semantic proximity Read ↗

Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease.Semantic proximity Read ↗

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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.Semantic proximity Read ↗

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