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Article

Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.

Acta neuropathologica - 13 Jan 2026

Appleby Brian S, Manca Matteo, Piazza Megan S, Kerr Travis D, Cornacchia Antonio, Bizzi Alberto, Kraus Allison, Cohen Mark L, Cali Ignazio

Abstract excerpt

Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is an invariably fatal neurodegenerative disorder affecting 1.5 cases per million individuals per year. About 10-15% of the human prion diseases are caused by a pathogenic variant in the prion protein (PrP) gene (PRNP), and the most common genetic human prion disease is CJD (gCJD) linked to a glutamic acid to lysine substitution at codon 200...

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Identifiers

PMID: 41528501
DOI: 10.1007/s00401-026-02975-x
PMCID: PMC12799623

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PRNP

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