13. Disease-Specific Cerebrospinal Fluid Investigations

  1. Nils Erik Gilhus MD, PHD8,9,
  2. Michael P. Barnes MD, FRCP10,11 and
  3. Michael Brainin MD12,13,14
  1. F. Deisenhammer1,
  2. R. Egg1,
  3. G. Giovannoni2,
  4. B. Hemmer3,
  5. A. Petzold4,
  6. F. Sellebjerg5,
  7. C. Teunissen6 and
  8. H. Tumani7

Published Online: 21 SEP 2011

DOI: 10.1002/9781444346268.ch13

European Handbook of Neurological Management, Volume 2, Second Edition

European Handbook of Neurological Management, Volume 2, Second Edition

How to Cite

Deisenhammer, F., Egg, R., Giovannoni, G., Hemmer, B., Petzold, A., Sellebjerg, F., Teunissen, C. and Tumani, H. (2011) Disease-Specific Cerebrospinal Fluid Investigations, in European Handbook of Neurological Management, Volume 2, Second Edition (eds N. E. Gilhus, M. P. Barnes and M. Brainin), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444346268.ch13

Editor Information

  1. 8

    Department of Clinical Medicine, University of Bergen, Norway

  2. 9

    Department of Neurology, Haukeland University Hospital, Bergen, Norway

  3. 10

    University of Newcastle, Newcastle upon Tyne, UK

  4. 11

    Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK

  5. 12

    Department of Clinical Medicine and Prevention, Austria

  6. 13

    Center for Clinical Neurosciences, Donau-Universität Krems, Austria

  7. 14

    Department of Neurology, Landesklinikum Donauregion Tulln, Tulln, Austria

Author Information

  1. 1

    Innsbruck Medical University, Innsbruck, Austria

  2. 2

    Barts and The London School of Medicine and Dentistry, London, UK

  3. 3

    Technische Universität München, Munich, Germany

  4. 4

    University College London, London, UK

  5. 5

    Copenhagen University Hospital, Copenhagen, Denmark

  6. 6

    VUmc, Amsterdam, The Netherlands

  7. 7

    Universität Ulm, Ulm, Germany

Publication History

  1. Published Online: 21 SEP 2011
  2. Published Print: 30 SEP 2011

ISBN Information

Print ISBN: 9781405185349

Online ISBN: 9781444346268



  • biomarker;
  • cerebrospinal fluid;
  • diagnosis;
  • testing


We reviewed the literature for disease-specific markers in cerebrospinal fluid (CSF) and evaluated their diagnostic and prognostic relevance in neurological diseases. High tau protein in combination with low amyloid b levels has a high sensitivity (80%) and specificity (90%) for Alzheimer's disease (AD) against normal ageing and can predict conversion of mild cognitive impairment to AD. The detection of 14-3-3 has a high sensitivity (80–90%) and specificity (90%) for the diagnosis of CJD. Low or undetectable CSF hypocretin-1 (orexin-1) levels constitute a diagnostic biomarker for narcolepsy with cataplexy. Detection of beta-2-transferrin indicates CSF contamination in oto- and rhinorrhoe with a sensitivity of > 79% at a specificity of 95%, similar to the beta-trace protein (sensitivity > 90%, specificity 100%). However, beta-trace protein is faster and less expensive to perform. Possible future biomarkers are: elevated levels of vascular endothelial growth factor are relatively sensitive (51–100%) and specific (73–100%) for leptomeningeal metastases from solid tumours and are associated with a poor prognosis in this condition. Elevated CSF neurofilament (Nf) levels probably reflect acute neuronal degeneration. The prognostic value of CSF Nf levels is highest in acute conditions such as subarachnoid haemorrhage, acute optic neuritis and neuromyelitis optica.