Creutzfeldt-Jakob disease with homozygous M232R mutation: A case report

J Neurol Sci. 2015 May 15;352(1-2):108-9. doi: 10.1016/j.jns.2015.03.017. Epub 2015 Mar 19.
No abstract available

Keywords: Creutzfeldt–Jakob disease; Homozygous mutation; M232R; Polymorphism; Prion protein gene; Substitution.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / pathology*
  • Creutzfeldt-Jakob Syndrome / diagnosis
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Prions / genetics*

Substances

  • Prions