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Article

Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.

Prion - 1 Jan 2014

Shi Qi, Shen Xiao-Jing, Zhou Wei, Xiao Kang, Zhang Xiao-Mei, Zhang Bao-Yun, Dong Xiao-Ping

Abstract excerpt

Abstract Here, we reported a Chinese case of Creutzfeldt-Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, she did not present special abnormality during clinical examinations except bradykinesia in her lower extremities....

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Identifiers

PMID: 25482600
DOI: 10.4161/19336896.2014.967040
PMCID: PMC4601328

Genes

PRNP

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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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