4.6 Article

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

Journal

MOLECULAR NEUROBIOLOGY
Volume 54, Issue 8, Pages 5919-5927

Publisher

SPRINGER
DOI: 10.1007/s12035-016-0128-4

Keywords

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

Categories

Funding

  1. EU Joint Program-Neurodegenerative Disease Research (JPND-DEMTEST Biomarker based diagnosis of rapid progressive dementias-optimization of diagnostic protocols) [01ED1201A]
  2. Center of Excellence in Environmental Health, ITMS [26240120033]
  3. European Regional Development Fund

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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 A beta 1-42 levels neither between both CJD forms nor between CJD patients and control group.

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