Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-05-15

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

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. More... »

PAGES

1620-1628

Journal

TITLE

Journal of Neurology

ISSUE

10

VOLUME

256

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-009-5163-x

DOI

http://dx.doi.org/10.1007/s00415-009-5163-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1043762731

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19444528


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