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Article

Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.

Prion - 1 Dec 2020

Wu Xiping, Cui Zhao, Guomin Xie, Wang Haifeng, Zhang Xiaoling, Li Zhiguang, Sun Qi, Qi Feiteng

Abstract excerpt

Genetic Creutzfeldt-Jakob disease (gCJD) is characterized by mutations in the PRNP gene and represents approximately 10-15% of the human prion diseases. Here, we report a 42-year-old Chinese man who was diagnosed with gCJD. The patient had a rare mutation in codon 196 (E196A) of PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A). The polymorphism of codon 129 in the patient was...

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Identifiers

PMID: 32501129
DOI: 10.1080/19336896.2020.1769528
PMCID: PMC7518748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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