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.

doi:10.3390/ijms232315172

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Article

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.

International journal of molecular sciences - 2 Dec 2022

Matsubayashi Taiki, Sanjo Nobuo

Abstract excerpt

Genetic Creutzfeldt-Jakob disease (gCJD) is a subtype of genetic prion diseases (gPrDs) caused by the accumulation of mutated pathological prion proteins (PrPSc). gCJD has a phenotypic similarity with sporadic CJD (sCJD). In Japan, gCJD with a Val to Ile substitution at codon 180 (V180I-gCJD) is the most frequent gPrD, while the mutation is extremely rare in countries other than Japan and Korea. In this article,...

Topics

Prion Proteins
Encephalopathy, Bovine Spongiform
Codon
Mutation
Humans
Creutzfeldt-Jakob Syndrome
Prions

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Identifiers

PMID: 36499498
DOI: 10.3390/ijms232315172
PMCID: PMC9737045

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