Article
Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation.
Annals of neurology - 1 Feb 2000
Simon E S, Kahana E, Chapman J, Treves T A, Gabizon R, Rosenmann H, Zilber N, Korczyn A D
Abstract excerpt
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...
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