Serial MRI in early Creutzfeldt-Jacob disease with a point mutation of prion protein at codon 180

Neuroradiology. 1995 Oct;37(7):531-4. doi: 10.1007/BF00593711.


We report a 66-year-old woman with histologically diagnosed Creutzfeldt-Jacob disease (CJD), followed with MRI from an early clinical stage. MRI demonstrated expansion of the high cortical signal on T2-weighted images, which differs from previous MRI reports of CJD. This patient followed an atypical clinical course: 16 months had passed before she developed akinetic mutism, and periodic sharp waves had not been detected on EEG after 2 years in spite of her akinetic mutism. Brain biopsy showed primary spongiform changes in the grey matter, and a point mutation of the prion protein gene at codon 180 was discovered using polymerase chain reaction direct sequencing and Tth 111 I cutting. This is the first case with the point mutation of the codon 180 variant with an atypical clinical course and characteristic MRI findings.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Akinetic Mutism / diagnosis
  • Akinetic Mutism / genetics
  • Akinetic Mutism / pathology
  • Cerebral Cortex / pathology
  • Codon / genetics*
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Creutzfeldt-Jakob Syndrome / genetics
  • Creutzfeldt-Jakob Syndrome / pathology
  • Diagnosis, Differential
  • Electroencephalography
  • Evoked Potentials
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Neurologic Examination
  • Point Mutation / genetics*
  • Polymerase Chain Reaction / methods
  • Prions / genetics*


  • Codon
  • Prions