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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-Sträussler-Scheinker syndrome (10%). Disease duration and codon 129 genotype influence the findings in a different way than in sporadic CJD.

Original publication

DOI

10.1007/s00415-009-5163-x

Type

Journal article

Journal

Journal of neurology

Publication Date

10/2009

Volume

256

Pages

1620 - 1628

Addresses

Department of Cellular Biology and Neurosciences, Instituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy. Ladogana@iss.it

Keywords

Humans, Creutzfeldt-Jakob Syndrome, Prion Diseases, Gerstmann-Straussler-Scheinker Disease, Insomnia, Fatal Familial, Phosphopyruvate Hydratase, Nerve Growth Factors, 14-3-3 Proteins, S100 Proteins, tau Proteins, Genotype, Time Factors, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Young Adult, S100 Calcium Binding Protein beta Subunit, Biomarkers