Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families

Clin Neurol Neurosurg. 2021 Mar:202:106490. doi: 10.1016/j.clineuro.2021.106490. Epub 2021 Jan 12.
No abstract available

Keywords: Creutzfeldt-Jakob disease; Dementia; Genetics; Seizure; Sensory disturbance.

Publication types

  • Case Reports

MeSH terms

  • Creutzfeldt-Jakob Syndrome / genetics
  • Creutzfeldt-Jakob Syndrome / physiopathology*
  • Diffusion Magnetic Resonance Imaging
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Paresthesia / genetics
  • Paresthesia / physiopathology*
  • Pedigree
  • Peru
  • Prion Proteins / genetics*

Substances

  • PRNP protein, human
  • Prion Proteins