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Open Access 01-10-2009 | Original Communication

Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies

Authors: Anna Ladogana, Pascual Sanchez-Juan, Eva Mitrová, Alison Green, Natividad Cuadrado-Corrales, Raquel Sánchez-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

Published in: Journal of Neurology | Issue 10/2009

Abstract

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.

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Title: Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies
Authors: Anna Ladogana
Pascual Sanchez-Juan
Eva Mitrová
Alison Green
Natividad Cuadrado-Corrales
Raquel Sánchez-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
Publication date: 01-10-2009
Publisher: D. Steinkopff-Verlag
Published in: Journal of Neurology / Issue 10/2009
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-009-5163-x

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Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies

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