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Article

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2018

Poleggi Anna, van der Lee Sven, Capellari Sabina, Puopolo Maria, Ladogana Anna, De Pascali Eleonora, Lia Debora, Formato Alessia, Bartoletti-Stella Anna, Parchi Piero, van Duijn Cornelia, Pocchiari Maurizio

Abstract excerpt

OBJECTIVES: The Glu to Lys change at codon 200 (E200K) of the PRNP gene is the most frequent mutation associated to genetic Creutzfeldt-Jakob disease (CJD) and the only one responsible for geographical clusters. Patients carrying this mutation develop disease at different ages and show variable clinical phenotypes that are not affected by the methione/valine polymorphism at codon 129 of the PRNP gene suggesting...

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PMID: 30032116
DOI: 10.1136/jnnp-2018-318756

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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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