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Article

Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

PloS one - 1 Jan 2016

Lee Sol Moe, Chung Myungguen, Hyeon Jae Wook, Jeong Seok Won, Ju Young Ran, Kim Heebal, Lee Jeongmin, Kim SangYun, An Seong Soo A, Cho Sung Beom, Lee Yeong Seon, Kim Su Yeon

Abstract excerpt

Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP). The valine to isoleucine substitution at codon 180 (V180I) of PRNP is the most common pathogenic mutation causing gCJD in East Asian patients. In this study, we...

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Identifiers

PMID: 27341347
DOI: 10.1371/journal.pone.0157540
PMCID: PMC4920420

Genes

PRNP
FGF20
LPA

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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