Creutzfeldt-Jakob disease segregating in a three generation Danish family |
| |
Authors: | Holm I E Abelskov K Bojsen-Møller M Nielsen A L Jørgensen A L |
| |
Affiliation: | Department of Pathology, Aarhus University Hospital, Denmark. |
| |
Abstract: | 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 family members homozygous for this valine codon the disease was more rapidly progressive than in a heterozygous family member, who had a variant clinical phenotype. Definite neuropathological diagnosis required prion staining with specific antibodies. |
| |
Keywords: | phenotypic variability PrP-immunohistochemistry D178N mutation codon 129 polymorphism |
本文献已被 PubMed 等数据库收录! |
|