NR ACMS
AU Chapman,J.C.; Ben-Israel,J.; Goldhammer,Y.; Korczyn,A.D.
TI The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation
QU Neurology 1994 Sep; 44(9): 1683-6
PT journal article
AB We determined the penetrance of the PRNP 200Lys mutation in the large cluster of Creutzfeldt-Jakob disease (CJD) cases among Jews of Libyan-Tunisian origin living in Israel, utilizing data from 52 carriers with definite or probable CJD and 34 unaffected mutation carriers. A life table analysis was carried out with development of CJD as the end point. The probability of developing CJD rose with age, fitting a second-order regression curve (R = 0.97, p < 0.001). The cumulative penetrance reached 50% at the age of 60 and 80% at 80 years. Including seven elderly possible CJD patients in the analysis made the penetrance approach 100% by age eighty. The penetrance of the mutation is high, and although age is a predominant influencing factor, other factors, such as gender, may also play a role.
MH Adult; Aged; Codon; Creutzfeldt-Jakob Syndrome/ethnology/*genetics; Female; Human; Israel; Jews; Libya/ethnology; Male; Middle Age; *Point Mutation; Prions/*genetics; Tunisia/ethnology
AD Joab Chapman (joab.chapman@sheba.health.gov.il), Amos D. Korczyn, Department of Neurology, Tel Aviv Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel; Joshua Ben-Israel, Medical Geriatric Center, Nethanya, Israel; Yochanan Goldhammer, Department of Neurology, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel
SP englisch
PO USA