NR AKWV
AU Simon,E.S.; Kahana,E.; Chapman,J.C.; Treves,T.A.; Gabizon,R.; Rosenmann,H.; Zilber,N.; Korczyn,A.D.
TI Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation
QU Annals of Neurology 2000 Feb; 47(2): 257-60
PT journal article
AB 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.
MH Adult; Aged; Comparative Study; Creutzfeldt-Jakob Syndrome/*genetics/physiopathology/psychology; Female; Heterozygote; *Homozygote; Human; Male; Middle Age; Mutation/*genetics; Prions/*genetics; Support, Non-U.S. Gov't
AD E. S. Simon, J. Chapman, T. A. Treves, A. D. Korczyn, Department of Neurology, Tel-Aviv Sourasky Medical Center and Tel-Aviv University Sackler Faculty of Medicine, Tel Aviv; E. Kahana, N. Zilber, Department of Neurology, Barzilai Medical Center, Ashkelon; R. Gabizon, H. Rosenmann, Departments of Neurology and Neuroepidemiology, Hebrew University Faculty of Medicine; and Centre de Recherche Francais de Jerusalem, CNRS
SP englisch
PO USA