Creutzfeldt‐Jakob disease profile in patients homozygous for the PRNP E200K mutation

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 ag...

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Veröffentlicht in:	Annals of neurology 2000-02, Vol.47 (2), p.257-260
Hauptverfasser:	Simon, E. S., Kahana, E., Chapman, J., Treves, T. A., Gabizon, R., Rosenmann, H., Zilber, N., Korczyn, A. D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Creutzfeldt-Jakob Syndrome - genetics Creutzfeldt-Jakob Syndrome - physiopathology Creutzfeldt-Jakob Syndrome - psychology Female Heterozygote Homozygote Humans Male Middle Aged Mutation - genetics Prions - genetics
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