The cerebrospinal fluid (CSF) laboratory in the NCJDRSU provides a national and international diagnostic service for the analysis of CSF 14-3-3 and other brain-specific proteins. The laboratory has been recognised as a centre of excellence by the World Health Organisation since 2002. In addition to our analytical and interpretative services, we also offer specialised training to scientists and clinicians across the world in the various analytical techniques used for the analysis of these proteins. The CSF laboratory also provides information to healthcare professionals regarding health and safety issues concerning CSF analysis.
Recently we have been instrumental in evaluating a new technique called real-time quaking induced conversion (RT-QuIC) for the investigation of patients with suspected sporadic CJD. This has proven to be a very sensitive and specific test with a sensitivity approaching 95% and a specificity of 100%. Since 2012 we have helped to establish this technique in many European countries and have held a number of training and interpretative RT-QuIC workshops.
The CSF laboratory has an active research programme involving the development of new approaches to CSF analysis in patients with CJD and other forms of dementia. In addition we have recently developed a RT-QuIC technique for the analysis of CSF α-synuclein, which is currently being evaluated in the investigation of patients with Lewy body dementia and Parkinson’s disease.
If you are a clinician and have a patient you suspect may have CJD and want to send us a CSF sample please consult our clinical team on 0131 537 1980 prior to performing the lumbar puncture.
If you are working within a laboratory in the United Kingdom and have received a CSF sample for 14-3-3/RT-QuIC analysis, please freeze an aliquot of at least 0.5ml of CSF and ask the requesting clinician to contact us on 0131 537 1980 to discuss the case with our clinical team.
Unfortunately we CANNOT proceed with CSF analysis without prior consultation with our clinical team. Guidance for the collection and storage of CSF prior to analysis is given below.
For all international requests please contact Dr Alison Green (Alison.Green39@nhs.scot)
Information regarding collection and storage of CSF prior to analysis
CSF 14-3-3 request form (please do not email this form if you do not have an nhs.net email account)
Current NHS health and safety guidelines for laboratories regarding analysis of CSF from suspected CJD patients
Bougard D, Brandel J-P, Belondrade M, Beringue V, Segarra C, Fleury H, Laplanche J-L, Mayran C, Nicot S, Green A, Welaratne A, Narbey D, Fournier-Wirth C, Knight R, Will R, Tiberghien P, Haik S, Coste J: Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease. Sci Transl Med 2016;8:370ra182.
Fairfoul G, McGuire LI, Pal S, Ironside JW, Neumann J, Christie S, Joachim C, Esiri M, Evetts SG, Rolinski M, Baig F, Ruffmann C, Wade-Martins R, Hu MT M, Parkkinen L, Green AJE. Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies. Ann Clin Transl Neurol 2016: doi:10.1002/acn3.338
McGuire LI, Poleggi A, Poggiolini I, Suardi S, Grznarova K, Shi S, de Vil B, Sarros S, Satoh K, Cheng K, Cramm M, Fairfoul G, Schmitz M, Zerr I, Cras P, Equestre M, Tagliavini F, Atarashi R, Knox D, Collins S, Haïk S, Parchi P, Pocchiari M, Green A.Cerebrospinal fluid real-time quaking-induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study. Ann Neurol 2016; 80: 160–165.
McGuire LI, Peden AH, Orrú CD, Wilham JM, Appleford NE, Mallinson G, Andrews M, Head MW, Caughey B, Will RG, Knight RSG, Green AJE. Real time quaking-induced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease. Ann Neurol 2012; 72: 278-85.
Chohan G, Pennington C, Mackenzie J, Andrews M, Everington D, Will RG, Knight RS, Green AJ. The role of cerebrospinal fluid 14-3-3 and other proteins in the diagnosis of sporadic Creutzfeldt-Jakob disease in the UK:a 10-year review. JNNP 2010; 81 (11):1243-1248.