Cerebrospinal fluid markers in sporadic Creutzfeldt-Jakob disease

Gianluigi Zanusso, Michele Fiorini, Sergio Ferrari, Alberto Gajofatto, Annachiara Cagnin, Andrea Galassi, Silvia Richelli, Salvatore Monaco

Research output: Contribution to journalArticle

Abstract

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 wereobtained when all the above markers were combined. The latter approach also allowed a reliable differential diagnosis with other neurodegenerative dementias.

Original languageEnglish
Pages (from-to)6281-6292
Number of pages12
JournalInternational Journal of Molecular Sciences
Volume12
Issue number9
DOIs
Publication statusPublished - Sep 2011

Keywords

  • 14-3-3 protein
  • Amyloid beta peptide
  • Sporadic creutzfeldt-jakob disease
  • Tau protein

ASJC Scopus subject areas

  • Computer Science Applications
  • Molecular Biology
  • Catalysis
  • Inorganic Chemistry
  • Spectroscopy
  • Organic Chemistry
  • Physical and Theoretical Chemistry
  • Medicine(all)

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  • Cite this

    Zanusso, G., Fiorini, M., Ferrari, S., Gajofatto, A., Cagnin, A., Galassi, A., Richelli, S., & Monaco, S. (2011). Cerebrospinal fluid markers in sporadic Creutzfeldt-Jakob disease. International Journal of Molecular Sciences, 12(9), 6281-6292. https://doi.org/10.3390/ijms12096281