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Article

Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.

Journal of the neurological sciences - 15 Dec 1993

Hitoshi S, Nagura H, Yamanouchi H, Kitamoto T

Abstract excerpt

Several polymorphisms of the prion protein gene are associated with the occurrence of familial Creutzfeldt-Jakob disease. We described a 84-year-old Japanese man with neuropathologically verified Creutzfeldt-Jakob disease of apparently sporadic type. His clinical presentation was atypical in point of a very late age at onset and absence of periodic synchronous discharge on electroencephalography. The patient...

Topics

Aged
Aged, 80 and over
Alleles
Base Sequence
Blotting, Western
Brain
Codon
Creutzfeldt-Jakob Syndrome
DNA
Humans
Leukocytes
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Prions

Source

Identifiers

PMID: 8138811
DOI: 10.1016/0022-510x(93)90275-4

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8138811-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.PMID 8138811Read ↗

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

[Clinicopathological characteristics of Creutzfeldt-Jakob disease with a PrP V180I mutation and M129V polymorphism on different alleles].Semantic proximity Read ↗

Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.Semantic proximity Read ↗

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.Semantic proximity Read ↗

Rare V180I mutation in PRNP gene of a Chinese patient with 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 ↗

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Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.Semantic proximity Read ↗

Familial Creutzfeldt-Jakob Disease with V180I MutationSemantic proximity Read ↗

Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study.Semantic proximity Read ↗

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

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.Semantic proximity Read ↗

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