title: Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation.
abstract: We identified 70 Creutzfeldt-Jakob disease patients with the previously described E200K mutation in the prion protein gene. The purpose of this study was to define the clinical features of E200K homozygous patients (n = 5), compared with heterozygotes. We found a statistically significant younger age at disease onset for the homozygous patients, although the average age at onset in this group was still in midlife. Disease features were not statistically different in the two groups. Possible explanations are discussed.
authors.affiliation: Department of Neurology, Tel-Aviv Sourasky Medical Center and Tel-Aviv University Sackler Faculty of Medicine, Israel.
authors.forename: E S
authors.initials: ES
authors.lastname: Simon
authors.forename: E
authors.initials: E
authors.lastname: Kahana
authors.forename: J
authors.initials: J
authors.lastname: Chapman
authors.forename: T A
authors.initials: TA
authors.lastname: Treves
authors.forename: R
authors.initials: R
authors.lastname: Gabizon
authors.forename: H
authors.initials: H
authors.lastname: Rosenmann
authors.forename: N
authors.initials: N
authors.lastname: Zilber
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
mesh_terms: D000328:Adult; D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions