Article
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.
American journal of human genetics - 1 Apr 1999
Lee H S, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi H Y, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek D C, Long J C, Korczyn A D, Goldfarb L G
Abstract excerpt
Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for >70% 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...
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