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Int. J. Mol. Sci. 2011, 12(9), 6281-6292; doi:10.3390/ijms12096281

Cerebrospinal Fluid Markers in Sporadic Creutzfeldt-Jakob Disease

1,* , 1
Received: 24 August 2011 / Revised: 16 September 2011 / Accepted: 20 September 2011 / Published: 23 September 2011
(This article belongs to the Special Issue Biomarkers 2011)
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Sporadic Creutzfeldt-Jakob disease (sCJD) is the commonest form of human prion diseases, accounting for about 85% of all cases. Current criteria for intra vitam diagnosis include a distinct phenotype, periodic sharp and slow-wave complexes at electroencephalography (EEG), and a positive 14-3-3-protein assay in the cerebrospinal fluid (CSF). In sCJD, the disease phenotype may vary, depending upon the genotype at codon 129 of the prion protein gene (PRNP), a site of a common methionine/valine polymorphism, and two distinct conformers of the pathological prion protein. Based on the combination of these molecular determinants, six different sCJD subtypes are recognized, each with distinctive clinical and pathologic phenotypes. We analyzed CSF samples from 127 subjects with definite sCJD to assess the diagnostic value of 14-3-3 protein, total tau protein, phosphorylated181 tau, and amyloid beta (Aβ) peptide 1-42, either alone or in combination. While the 14-3-3 assay and tau protein levels were the most sensitive indicators of sCJD, the highest sensitivity, specificity and positive predictive value were obtained when all the above markers were combined. The latter approach also allowed a reliable differential diagnosis with other neurodegenerative dementias.
Keywords: sporadic Creutzfeldt-Jakob disease; 14-3-3 protein; tau protein; amyloid beta peptide sporadic Creutzfeldt-Jakob disease; 14-3-3 protein; tau protein; amyloid beta peptide
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Zanusso, G.; Fiorini, M.; Ferrari, S.; Gajofatto, A.; Cagnin, A.; Galassi, A.; Richelli, S.; Monaco, S. Cerebrospinal Fluid Markers in Sporadic Creutzfeldt-Jakob Disease. Int. J. Mol. Sci. 2011, 12, 6281-6292.

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