Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs

Dement Geriatr Cogn Disord. 2017;43(1-2):71-80. doi: 10.1159/000454802. Epub 2017 Jan 6.


Background: Several biomarkers have been proposed to discriminate sporadic Creutzfeldt-Jakob disease (sCJD) from other dementias and control cases. However, their clinical accuracy depends on the PRNP codon 129 genotype, leaving it unclear how well established markers behave in untested conditions.

Methods: We analyzed 14-3-3, tau, p-tau levels, and the p-tau/tau ratio in a population sample collected from Polish hospitals including nondementia, dementia, and definite sCJD cases and validated their parameters according to previously established cutoffs. Additionally, the correlation between biomarkers and disease duration as well as the influence of the PRNP129 polymorphism are reported.

Results: The tau levels and p-tau/tau ratios differed considerably between sCJD and clinically characterized non-CJD cases (p < 0.001). p-tau was only elevated in sCJD when compared to cases without dementia (p < 0.05). Tau and the p-tau/tau ratio showed a sensitivity of 95 and 100%, respectively, in detecting sCJD cases. A negative correlation between tau levels and disease duration, but not the timing of lumbar puncture was observed.

Conclusion: The present findings confirmed the value of the p-tau/tau ratio as a robust sCJD biomarker and suggest a role for tau as prognostic marker.

Publication types

  • Validation Study

MeSH terms

  • 14-3-3 Proteins / cerebrospinal fluid
  • Aged
  • Biomarkers / cerebrospinal fluid
  • Case-Control Studies
  • Creutzfeldt-Jakob Syndrome / cerebrospinal fluid*
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Dementia / cerebrospinal fluid
  • Dementia / diagnosis
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Poland
  • Polymorphism, Genetic / genetics
  • Prion Proteins / cerebrospinal fluid
  • Prion Proteins / genetics
  • Reference Values
  • Reproducibility of Results
  • Retrospective Studies
  • Spinal Puncture
  • tau Proteins / cerebrospinal fluid


  • 14-3-3 Proteins
  • Biomarkers
  • PRNP protein, human
  • Prion Proteins
  • tau Proteins

Supplementary concepts

  • Creutzfeldt-Jakob Disease, Sporadic