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

doi:10.1159/000017096

Back to search

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 su...

Topics

Aged
Aged, 80 and over
Creutzfeldt-Jakob Syndrome
DNA
Female
Heterozygote
Humans
Jews
Male
Mutation
Penetrance
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.