Creutzfeldt-Jakob disease segregating in a three generation Danish family.

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.

journal_name

Acta Neurol Scand

authors

Holm IE,Abelskov K,Bojsen-Møller M,Nielsen AL,Jørgensen AL

doi

10.1034/j.1600-0404.2001.103003139.x

subject

Has Abstract

pub_date

2001-03-01 00:00:00

pages

139-47

issue

3

eissn

0001-6314

issn

1600-0404

pii

ane263

journal_volume

103

pub_type

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