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Departments of Neurology, Tel Aviv Medical Center (Drs. Chapman and Korczyn) and Sheba Medical Center (Dr. Goldhammer), Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel; and Medical Geriatric Center (Dr. Ben-Israel), Nethanya, Israel.
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.
Address correspondence and reprint requests to Professor A.D. Korczyn, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
Received February 2, 1993. Accepted in final form March 11, 1994.
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