Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies

Anna Ladogana, Pascual Sanchez-Juan, Eva Mitrova, Alison Green, Natividad Cuadrado-Corrales, Raquel Sanchez-Valle, Silvia Koscova, Adriano Aguzzi, Theodoros Sklaviadis, Jerzy Kulczycki, Joanna Gawinecka, Albert Saiz, Miguel Calero, Cornelia M. van Duijn, Maurizio Pocchiari, Richard Knight, Inga Zerr

Research output: Contribution to journalArticlepeer-review


The 14-3-3 protein test has been shown to support the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) when associated with an adequate clinical context, and a high differential potential for the diagnosis of sporadic CJD has been attributed to other cerebrospinal fluid (CSF) proteins such as tau protein, S100b and neuron specific enolase (NSE). So far there has been only limited information available about biochemical markers in genetic transmissible spongiform encephalopathies (gTSE), although they represent 10-15% of human TSEs. In this study, we analyzed CSF of 174 patients with gTSEs for 14-3-3 (n = 166), tau protein (n = 78), S100b (n = 46) and NSE (n = 50). Levels of brain-derived proteins in CSF varied in different forms of gTSE. Biomarkers were found positive in the majority of gCJD (81%) and insert gTSE (69%), while they were negative in most cases of fatal familial insomnia (13%) and Gerstmann-Straussler-Scheinker syndrome (10%). Disease duration and codon 129 genotype influence the findings in a different way than in sporadic CJD.

Original languageEnglish
Pages (from-to)1620-1628
Number of pages9
JournalJournal of Neurology
Issue number10
Publication statusPublished - Oct 2009


  • Creutzfeldt-Jakob disease
  • CSF proteins
  • 14-3-3 protein
  • Tau


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