Article
Creutzfeldt-Jakob disease segregating in a three generation Danish family.
Acta neurologica Scandinavica - 1 Mar 2001
Holm I E, Abelskov K, Bojsen-Møller M, Nielsen A L, Jørgensen A L
Abstract excerpt
A three generation family is presented in which rapidly progressive, early-onset Creutzfeldt-Jakob disease without typical EEG changes segregates as an autosomal dominant disease. An aspartic acid to asparagine mutation at codon 178 of the prion gene, PRNP, co-segregates with the disease. As expected, the disease allele also carries the valine codon of the polymorphic valine/methionine codon 129 of the gene. In...
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