NR AKDZ
AU Rosenmann,H.; Kahana,E.; Korczyn,A.D.; Kahana,I.; Chapman,J.C.; Gabizon,R.
TI Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease
QU Neurology 1999 Oct 12; 53(6): 1328-9
KI Neurology. 1999 Oct 12;53(6):1164-5. PMID: 10522865
PT journal article
AB Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protein (PrP) gene presents within a wide range of phenotypic heterogeneity, including the age at disease onset. We report an earlier disease onset for mutation carriers of the offspring generation when compared with that of their parents, suggesting the possibility of anticipation. A still unidentified environmental or genetic element may affect the age at onset in mutation carriers of different generations.
MH Age Factors; Aged; Creutzfeldt-Jakob Syndrome/*genetics; Human; Middle Age; Mutation/genetics; Phenotype; Prions/*genetics; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.
AD Department of Neurology, Hadassah University Hospital, Jerusalem, Israel.
SP englisch
PO USA