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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-18871

Ladogana, A; Sanchez-Juan, P; Mitrová, E; Green, A; Cuadrado-Corrales, N; Sánchez-Valle, R; Koscova, S; Aguzzi, A; Sklaviadis, T; Kulczycki, J; Gawinecka, J; Saiz, A; Calero-Lara, M; van Duijn, C M; Pocchiari, M; Knight, R; Zerr, I (2009). Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. Journal of Neurology, Epub a:1-9.

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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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14 citations in Web of Science®
23 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
DDC:570 Life sciences; biology
610 Medicine & health
Language:English
Date:15 May 2009
Deposited On:08 Jun 2009 08:00
Last Modified:27 Nov 2013 23:21
Publisher:Springer
ISSN:0340-5354
Additional Information:SpringerLink – Full text article
Publisher DOI:10.1007/s00415-009-5163-x
Official URL:http://www.springerlink.com/content/w22g7074518hl00w/fulltext.pdf
PubMed ID:19444528

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