Heidenhain variant of Creutzefeldt-Jackob disease in a patient carrying the V210I mutation with asymmetric MRI abnormalities

Acta Neurol Belg. 2020 Aug;120(4):1007-1009. doi: 10.1007/s13760-020-01381-8. Epub 2020 May 20.
No abstract available

Keywords: Asymmetric cortical abnormalities; Creutzfeldt–Jakob disease; Heidenhain variant; Mutation; PRNP gene; RT-QUIC.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Brain / diagnostic imaging
  • Brain / pathology
  • Creutzfeldt-Jakob Syndrome / diagnostic imaging*
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mutation
  • Prion Proteins / genetics*
  • Vision Disorders / etiology

Substances

  • PRNP protein, human
  • Prion Proteins