The imaging appearance of Creutzfeldt-Jakob disease caused by the E200K mutation

Magn Reson Imaging. 2006 Nov;24(9):1121-9. doi: 10.1016/j.mri.2006.07.001. Epub 2006 Sep 7.


The E200K mutation on chromosome 20 can cause familial Creutzfeldt-Jakob disease (CJD). Patients with this mutation are clinically similar to those with sporadic CJD, but their imaging features are not well documented. We report here the quantitative and qualitative evaluation of the magnetic resonance (MR) imaging characteristics of this unique group of patients using three-dimensional spoiled gradient recalled (SPGR) echo images, diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) measurements, MR spectroscopy and a fluid-attenuated inversion recovery (FLAIR) sequence. The SPGR and ADC data were analyzed with SPM99. ANCOVA and regression models were used for a region-of-interest (ROI) analysis of ADC and metabolic ratios. CJD patients had a decreased fraction of gray matter and an increased fraction of cerebrospinal fluid (P=.001) in the cortex and cerebellum and increased ADC values in the cortex (P<.001). Focal decreases of ADC were found in the putamen via ROI analysis (548+/-83 vs. 709+/-9 microm(2)/s, P=.02). N-acetyl aspartate (NAA) was generally reduced, with the NAA/Cho ratio lowest in the cingulate gyrus. Qualitative assessment revealed hyperintensities on FLAIR, DWI or both in the putamen (three out of four patients), caudate (three out of four patients) and thalamus. These results provide a framework for future study of patients with genetically defined familial CJD.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Brain / pathology
  • Chromosomes, Human, Pair 20
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Diffusion Magnetic Resonance Imaging*
  • Female
  • Humans
  • Israel
  • Jews / genetics
  • Libya / ethnology
  • Magnetic Resonance Spectroscopy*
  • Male
  • Middle Aged
  • Mutation