title: Penetrance and phenotypic expression of a mutation linked to Creutzfeldt-Jakob disease in the elderly.
abstract: 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 consistent with primary degenerative dementia. All had low Hachinski ischemic scores (0.8 +/- 0.8, mean +/- SD) as compared with noncarriers (6.7 +/- 3.0; p = 0.011, Wilcoxon rank sum test). In addition to the cognitive decline, 4 carriers had additional cerebellar, pyramidal, or extrapyramidal findings compatible with the diagnosis of possible or probable Creutzfeldt-Jakob disease.
authors.affiliation: Department of Neurology, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: Y R
authors.initials: YR
authors.lastname: Frenkel
authors.forename: J
authors.initials: J
authors.lastname: Ben-Israel
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: J
authors.initials: J
authors.lastname: Chapman
mesh_terms: D000368:Aged / Q000523:psychology*; D000369:Aged, 80 and over; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000523:psychology; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007585:Jews; D008297:Male; D009154:Mutation; D019683:Penetrance; D010641:Phenotype
chemical_list: D004247:DNA