Article
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.
American journal of medical genetics - 1 Oct 2001
Ladogana A, Almonti S, Petraroli R, Giaccaglini E, Ciarmatori C, Liù Q G, Bevivino S, Squitieri F, Pocchiari M
Abstract excerpt
Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, cerebellar signs, myoclonic jerks, and synchronic...
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