Unique clinicopathological features and PrP profiles in the first autopsied case of dura mater graft-associated Creutzfeldt-Jakob disease with codon 219 lysine allele observed in Japanese population

J Neurol Sci. 2009 Oct 15;285(1-2):265-7. doi: 10.1016/j.jns.2009.07.019. Epub 2009 Aug 8.

Abstract

Polymorphism at codon 219 lysine in prion protein (PrP) is considered to affect the clinicopathological features of prion diseases including Creutzfeldt-Jakob disease (CJD) and to have an inhibiting effect on the pathogenesis of these diseases. We describe the first autopsied case of dura mater graft-associated CJD (dCJD) with heterozygosity of lysine at codon 219 in PrP observed in a Japanese subject. Although this case demonstrated the non-plaque type of dCJD and MM1 subgroup of CJD pathologically and biochemically, the patient demonstrated a long incubation period (19.3 years), atypical periodic sharp-wave complexes with a dominant rhythm on EEG, partially scattered small deposits of plaque-like PrP along with synaptic type deposits of PrP on immunohistochemistry and an atypical MM1 glycosylation pattern with a relatively increased diglycosylated isoform of proteinase-resistant PrP on western blot analysis (i.e. "MM1 variant" pattern). These findings in this case were atypical of the non-plaque type of dCJD and MM1 subgroup of CJD. Thus, these findings can be unique to dCJD with codon 219 lysine allele, and this allele may influence the clinicopathological features and PrP profiles in dCJD.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology
  • Brain / physiopathology
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Creutzfeldt-Jakob Syndrome / physiopathology
  • Dura Mater / transplantation*
  • Fatal Outcome
  • Humans
  • Japan
  • Male
  • Prions / genetics*
  • Time Factors

Substances

  • Prions