Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case

Neurology. 1998 Jul;51(1):271-4. doi: 10.1212/wnl.51.1.271.

Abstract

A 49-year-old woman presented with isolated aphasia followed by dementia and ataxia with a duration of 4 years. Histopathologically there was panencephalic involvement, status spongiosus, and kuru-type plaques. Molecular analysis showed heterozygosity at codon 129 in the prion protein (PrP) gene, and type 2 protease-resistant PrP. The comparison between this case and those previously reported suggests that the panencephalopathic variant of Creutzfeldt-Jakob disease (CJD) is an aspecific end-stage condition displayed by most if not all CJD variants in individual patients with an unusually prolonged course.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Biopsy
  • Brain / pathology*
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Female
  • Genotype
  • Humans
  • Kuru / genetics
  • Kuru / pathology*
  • Middle Aged
  • Nerve Fibers / pathology
  • Prions / genetics

Substances

  • Prions