Disease duration in E200K familial Creutzfeldt–Jakob disease is correlated with clinical, radiological, and laboratory variables

  • Oren S. CohenEmail author
  • Joab Chapman
  • Amos D. Korczyn
  • Zeev Nitsan
  • Shmuel Appel
  • Esther Kahana
  • Hanna Rosenmann
  • Chen Hoffmann
Neurology and Preclinical Neurological Studies - Original Article


Previous studies have suggested that disease duration in Creutzfeldt–Jakob disease (CJD) may be related to the radiological findings or cerebrospinal fluid (CSF) tau levels; however, it is not yet established whether clinical, radiological, and laboratory findings at diagnosis can predict survival or have a prognostic value. The aim of this study was to examine whether the disease duration is correlated with clinical, radiological, and laboratory variables. The study population consisted of consecutive familial CJD (fCJD) patients that were assessed within 1 week from the diagnosis including the CJD neurological scale (CJD-NS), Minimental Status Examination, Frontal Assessment Battery, NIH Stroke Scale, and the expanded disability status scale. In addition, a single MRI study was done and measurements of the extent of the cortical and subcortical involvement were performed. CSF was examined as part of the workout, and tau levels were determined. Sixty-nine fCJD patients were included in the study (43 males, mean age 59.3 ± 8.4, range 44–79 years). The mean disease duration was 7.3 ± 6.9 months (median 5.6 months, range 2–20 months). A significant correlation was found between the disease duration and the CJD-NS, the disease burden as reflected by the degree of cortical involvement by DWI, and the CSF tau levels. The findings of the current study reveal that several findings at disease onset including the disease severity, the cortical changes, and the tau levels are each individually correlated with disease duration and can be used by the clinician as a tool to predict the disease course and prognosis.


Creutzfeldt–Jakob disease E200K mutation Neuroimaging Prognosis Tau CSF 



The funding was received by the National Institutes of Health (Grant no. NS043488).


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Copyright information

© Springer-Verlag GmbH Austria, ein Teil von Springer Nature 2018

Authors and Affiliations

  • Oren S. Cohen
    • 1
    • 2
    Email author
  • Joab Chapman
    • 2
    • 3
    • 4
  • Amos D. Korczyn
    • 2
  • Zeev Nitsan
    • 5
  • Shmuel Appel
    • 5
  • Esther Kahana
    • 5
  • Hanna Rosenmann
    • 6
  • Chen Hoffmann
    • 2
    • 7
  1. 1.Department of NeurologyAssaf Harofeh Medical CenterZerifinIsrael
  2. 2.Sackler Faculty of Medicine, Tel-Aviv UniversityTel AvivIsrael
  3. 3.Department of NeurologyChaim Sheba Medical CenterTel-HashomerIsrael
  4. 4.Robert and Martha Harden Chair in Mental and Neurological Diseases, Sackler Faculty of Medicine, Tel Aviv UniversityTel AvivIsrael
  5. 5.Department of NeurologyBarzilai Medical CenterAshkelonIsrael
  6. 6.Department of NeurologyHadassah Hebrew University Medical CenterJerusalemIsrael
  7. 7.Department of RadiologyChaim Sheba Medical CenterTel-HashomerIsrael

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