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Article

Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.

European journal of neurology - 1 May 2016

Cohen O S, Kimiagar I, Korczyn A D, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Chapman J

Abstract excerpt

BACKGROUND AND PROPOSE: Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe...

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Source

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Identifiers

PMID: 26806765
DOI: 10.1111/ene.12955
PMCID: PMC4833540

Genes

PRNP

Provenance

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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