Chapter 13
Disease-Specific Cerebrospinal Fluid Investigations
F. Deisenhammer,
R. Egg, G. Giovannoni,
B. Hemmer, A. Petzold, F. Sellebjerg,
C. Teunissen, H. Tumani,
F. Deisenhammer
Innsbruck Medical University, Innsbruck, Austria
Search for more papers by this authorG. Giovannoni
Barts and The London School of Medicine and Dentistry, London, UK
Search for more papers by this authorF. Sellebjerg
Copenhagen University Hospital, Copenhagen, Denmark
Search for more papers by this authorF. Deisenhammer,
R. Egg, G. Giovannoni,
B. Hemmer, A. Petzold, F. Sellebjerg,
C. Teunissen, H. Tumani,
F. Deisenhammer
Innsbruck Medical University, Innsbruck, Austria
Search for more papers by this authorG. Giovannoni
Barts and The London School of Medicine and Dentistry, London, UK
Search for more papers by this authorF. Sellebjerg
Copenhagen University Hospital, Copenhagen, Denmark
Search for more papers by this authorBook Editor(s):Nils Erik Gilhus MD, PHD,
Michael P. Barnes MD, FRCP,
Michael Brainin MD,
Nils Erik Gilhus MD, PHD
Department of Clinical Medicine, University of Bergen, Norway
Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorMichael P. Barnes MD, FRCP
University of Newcastle, Newcastle upon Tyne, UK
Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK
Search for more papers by this authorMichael Brainin MD
Department of Clinical Medicine and Prevention, Austria
Center for Clinical Neurosciences, Donau-Universität Krems, Austria
Department of Neurology, Landesklinikum Donauregion Tulln, Tulln, Austria
Search for more papers by this authorFirst published: 21 September 2011
Summary
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.
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