Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Acta Neuropathol Commun. 2019 Mar 21;7(1):47. doi: 10.1186/s40478-019-0699-1.
No abstract available

Keywords: Dementia; Genetic Creutzfeldt-Jakob disease; Mutation; Neuropathology; Prion diseases; R208H.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Fatal Outcome
  • Female
  • Heterozygote*
  • Humans
  • Middle Aged
  • Prion Proteins / genetics*

Substances

  • PRNP protein, human
  • Prion Proteins