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Article

Penetrance and phenotypic expression of a mutation linked to Creutzfeldt-Jakob disease in the elderly.

Dementia and geriatric cognitive disorders - 1 Jan 2000

Frenkel Y R, Ben-Israel J, Korczyn A D, Chapman J

Abstract excerpt

We have previously reported several carriers of the PRNP E200K point mutation among subjects aged over 65 years. In order to examine the prevalence of this mutation among demented subjects of Libyan and Tunisian origin and the clinical characteristics associated with it, we screened 58 elderly subjects belonging to this ethnic group. Five mutation carriers were identified, all of whom had cognitive deterioration...

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Source

Identifiers

PMID: 9844036
DOI: 10.1159/000017096

Genes

PRNP

Variants

Provenance

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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