Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy

Mov Disord. 2012 Apr;27(4):476-9. doi: 10.1002/mds.24002.
No abstract available

Publication types

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

MeSH terms

  • Arginine / genetics*
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology
  • DNA Mutational Analysis
  • Female
  • Histidine / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation / genetics*
  • Prion Proteins
  • Prions / genetics*
  • Supranuclear Palsy, Progressive / physiopathology*

Substances

  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Histidine
  • Arginine