RT Journal Article
SR Electronic
T1 The risk of developing Creutzfeldt‐Jakob disease in subjects with the PRNP gene codon 200 point mutation
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1683
OP 1683
DO 10.1212/WNL.44.9.1683
VO 44
IS 9
A1 Chapman, Joab
A1 Ben-Israel, Joshua
A1 Goldhammer, Yochanan
A1 Korczyn, Amos D.
YR 1994
UL http://n.neurology.org/content/44/9/1683.abstract
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.