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Cerebrospinal Fluid Biomarkers in the Diagnosis of Creutzfeldt-Jakob Disease in Slovak Patients: over 10-Year Period Review

Abstract

Creutzfeldt-Jakob disease is a rare, but rapidly progressive, up to now untreatable and fatal neurodegenerative disorder. Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is difficult; however, it can be facilitated by suitable biomarkers. Aim of the present study is to compare levels of cerebrospinal fluid biomarkers (total tau protein, phosphorylated-tau protein, protein 14-3-3 and amyloid beta) in Slovak population of CJD suspect cases, retrospectively in over a 10-year period. One thousand three hundred sixty-four CSF samples from patients with suspect CJD, forming a homogenous group in terms of geographical as well as of equal transport conditions, storage and laboratory processing, were analysed. Definite diagnosis of Creutzfeldt-Jakob disease was confirmed in 101 patients with genetic form, and 60 patients with its sporadic form of the disease. Specificity of protein 14-3-3 and total tau in both forms CJD was similar (87 % for P14-3-3/85 % for total tau), sensitivity to P 14-3-3 and total tau was higher in sporadic Creutzfeldt-Jakob disease (sCJD) (90/95 %) than in genetic Creutzfeldt-Jakob disease (gCJD) (89/74 %). As expected, the total tau levels were significantly higher in CJD patients than in controls, but there was also significant difference between gCJD and sCJD (levels in gCJD were lower; p = 0.003). There was no significant difference in p-tau and Aβ 1-42 levels neither between both CJD forms nor between CJD patients and control group.

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Acknowledgments

The study was supported by grant from EU Joint Program-Neurodegenerative Disease Research (JPND-DEMTEST Biomarker based diagnosis of rapid progressive dementias-optimization of diagnostic protocols, 01ED1201A) and by Center of Excellence in Environmental Health, ITMS No.26240120033, based on the supporting operational Research and development program financed from the European Regional Development Fund.

Thanks to Dana Vajcikova for technical assistance.

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Correspondence to Dana Zakova Slivarichova.

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The authors declare that they have no conflicts of interests.

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Koscova S. and Slivarichova-Zakova Dana contributed equally

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Koscova, S., Zakova Slivarichova, D., Tomeckova, I. et al. Cerebrospinal Fluid Biomarkers in the Diagnosis of Creutzfeldt-Jakob Disease in Slovak Patients: over 10-Year Period Review. Mol Neurobiol 54, 5919–5927 (2017). https://doi.org/10.1007/s12035-016-0128-4

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Keywords

  • Cerebrospinal fluid
  • Creutzfeldt-Jakob disease
  • E200K mutation
  • Protein 14-3-3
  • Total tau
  • Biomarker