Presentation on theme: "A Window upon the Brain Analysis of CSF Neurotransmitters Cofactors and Vitamins John Earl Australasian Neurochemistry Laboratory Clinical Biochemistry."— Presentation transcript:
A Window upon the Brain Analysis of CSF Neurotransmitters Cofactors and Vitamins John Earl Australasian Neurochemistry Laboratory Clinical Biochemistry Department The Children’s Hospital at Westmead Sydney, NSW, Australia AACB ASM Perth 27 th October 2010 NSW/ACT AACB 17 th May 2011
CSF Neurotransmitters by HPLC Measurement Catecholamines Catecholamines Tyrosine pathway metabolites Tyrosine pathway metabolites Tryptophan pathway metabolites Tryptophan pathway metabolites Dopamine metabolites Dopamine metabolites Serotonin metabolites Serotonin metabolites Pteridines Pteridines 5-methyltetrahydrofolate 5-methyltetrahydrofolate Histamine & metabolites Histamine & metabolites Amino Acids Amino Acids Kynurenine pathway Kynurenine pathway B6 Vitamers B6 Vitamers Trace level analysis of unstable compounds Protect from light, Store frozen -40 o C Australasian Neurochemistry Laboratory Clinical Biochemistry Department The Children’s Hospital at Westmead Sydney, NSW, Australia
Neurochemistry Laboratory Cerebrospinal Fluid (CSF) Collected in 5 tubes with various preservatives 0.5ml CSF added to each tube Immediately frozen. Transport on dry ice Instructions / Details on Internet http://www.cs.nsw.gov.au/csls/handbook/FactSheetView.asp?Number=45 Spot Urine (frozen) Sample Collection
Progression of Encephalitis Lethargica Ref Ranges: HVA > 0.34 5-HIAA > 0.10
Encephalitis lethargica syndrome: 20 new cases and evidence of basal ganglia autoimmunity. Russell C. Dale, Andrew J. Church, Robert A. H. Surtees, Andrew J. Lees, Jane E. Adcock, Brian Harding, Brian G. R. Neville and Gavin Giovannoni Brain (2004), 127, 21±33 Autoimmune process targeting the NMDA receptor.
Infantile Spasms Normal CSF HVA, 5-HIAA and pterins 56% Low HVA, 5-HIAA, Biopterin44% * Raised CSF Neopterin 1% 10 years - 65 cases for Neurotransmitter testing * Increasing evidence for Brain structural abnormalities including defective ARX Homeobox gene
Neonatal Seizures ? PNPO MRI: White matter high intensity signals Newborn boy developed seizures at 3 weeks (atypical). No response to pyridoxine Good response after pyridoxal phosphate. Provisional Diagnosis: Pyridox(am)ine Oxidase Deficiency – PNPO
A Window upon the Brain Metabolic Diseases Deficiency Diseases Inflammatory Diseases Neurodegenerative Diseases Structural diseases
Improvement in detection and identification of Brain Diseases by cerebrospinal fluid analysis. by cerebrospinal fluid analysis. Improve monitoring and treatment of Brain Diseases Towards evidence based Neurology and Neuropharmacology “Chemical Imaging of the Brain” - Identify chemical markers which arise from different brain regions. A window upon the Brain
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