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Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies |
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| 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 |
| Affiliation: | 1. Department of Cellular Biology and Neurosciences, Instituto Superiore di Sanita, Viale Regina Elena 299, 00161, Rome, Italy 2. Centro de Investigacion Biomedica en Red sobre Enferemedades neurodegenerativas (CIBERNED) and Institute for Formation and Research of the Fundacion “Marques de Valdecilla” (IFIMAV), Santander, Spain 3. National Reference Centre for Prion Diseases, Research Base of Slovak Medical University, Limbová 14, 833-03, Bratislava, Slovakia 4. National CJD Surveillance Unit, The University of Edinburgh, EH4-2XU, Edinburgh, UK 5. Instituto de Salud Carlos III, Centro Nacional de Microbiologia, Ctra. Majadahonda, 28220, Madrid, Spain 6. Department of Neurology, Hospital Clinic Provincial de Barcelona, Villarroel 170, 08036, Barcelona, Spain 7. National Reference Center for Human Prion Diseases (NRPE), Institute of Neuropathology, Schmelzbergstr.12, 8091, Zurich, Switzerland 8. Laboratory of Pharmacology, Department of Pharmaceutical Sciences, School of Health Sciences, Aristotle University of Thessaloniki, 54124, Thessaloníki, Greece 9. I-st Neurological Department, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland 10. National Reference Center for Transmissible Spongiform Encephalopathies, Department of Neurology, Georg-August-University G?ttingen, Robert-Koch-Str. 40, 37075, G?ttingen, Germany 11. Department of Epidemiology and Biostatistics, Erasmus University Medical Center Rotterdam, PO Box 1738, 3000, DR Rotterdam, The Netherlands |
| 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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