Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadi c. Hereditary CJDs are associated with mutations in the PRNP gene on chromo some 20p12-pter. We report a family in which four patients developed classi cal clinical signs of CJD, including severe cognitive decline, cerebellar s igns, myoclonic jerks, and synchronic periodic discharges on electroencepha logram. The E211Q mutation has been identified in family members, but not i n 97 sporadic CJD patients referred to the Italian registry of CJD nor in 2 05 healthy normal subjects, suggesting a pathogenic role for this mutation. (C) 2001 Wiley-Liss, Inc.