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

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
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
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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. Ann Neurol 2000;47:257–260
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(200002)47:2<257::AID-ANA20>3.0.CO;2-U