The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation.
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.
Chapman
J
J
Department of Neurology, Tel Aviv Medical Center, Israel.
Ben-Israel
J
J
Goldhammer
Y
Y
Korczyn
A D
AD
D000328:Adult; D000368:Aged; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D007557:Israel; D007585:Jews; D008002:Libya / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011328:Prions / Q000235:genetics*; D014416:Tunisia / Q000208:ethnology
D003062:Codon; D011328:Prions