Causing Familial Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or he-reditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for 170 % of families with CJD worldwide. Prevalence of the 200K variant of familial CJD is especially high in Slovakia, Chile, and Italy, and among populations of Libyan and Tunisian Jews. To study ancestral origins of the 200K mutation–associated chromosomes, we se-lected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic single-nucle-otide polymorphism at the PRNP codon 129. Haplo-types were constructed for 62 CJD families originating from 11 world populations. The results show that Lib-yan, Tunisian, Italian, Chilean, and Spanish familie