Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200k mutation

E. S. Simon, E. Kahana, J. Chapman, T. A. Treves, R. Gabizon, H. Rosenmann, N. Zilber, A. D. Korczyn

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)257-260
Number of pages4
JournalAnnals of Neurology
Issue number2
StatePublished - 2000


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