Clinical utility of cerebrospinal fluid biomarkers in the diagnosis of early Alzheimer's disease

Alzheimer's & Dementia - Tập 11 - Trang 58-69 - 2015
Kaj Blennow1, Bruno Dubois2, Anne M. Fagan3, Piotr Lewczuk4, Mony J. de Leon5,6, Harald Hampel2
1Department of Neuroscience and Physiology, Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, University of Gothenburg, Mölndal, Sweden
2Institute for Memory and Alzheimer's Disease, Institute of Neurology, Pitié-Salpêtrière Hospital Group, Pierre and Marie Curie University, Paris, France
3Department of Neurology, Washington University School of Medicine, St. Louis, Mo. USA
4Universitätsklinikum Erlangen and Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany
5Department of Psychiatry, New York University School of Medicine, New York, NY, USA
6Centre for Brain Health, New York University School of Medicine, New York, NY, USA

Tóm tắt

AbstractSeveral potential disease‐modifying drugs for Alzheimer's disease (AD) have failed to show any effect on disease progression in clinical trials, conceivably because the AD subjects are already too advanced to derive clinical benefit from treatment and because diagnosis based on clinical criteria alone introduces a high misdiagnosis rate. Thus, well‐validated biomarkers for early detection and accurate diagnosis are crucial. Low cerebrospinal fluid (CSF) concentrations of the amyloid‐β (Aβ1‐42) peptide, in combination with high total tau and phosphorylated tau, are sensitive and specific biomarkers highly predictive of progression to AD dementia in patients with mild cognitive impairment. However, interlaboratory variations in the results seen with currently available immunoassays are of concern. Recent worldwide standardization efforts and quality control programs include standard operating procedures for both preanalytical (e.g., lumbar puncture and sample handling) and analytical (e.g., preparation of calibration curve) procedures. Efforts are also ongoing to develop highly reproducible assays on fully automated instruments. These global standardization and harmonization measures will provide the basis for the generalized international application of CSF biomarkers for both clinical trials and routine clinical diagnosis of AD.

Tài liệu tham khảo

10.1111/j.1468-1331.2010.03040.x 10.1016/j.jalz.2011.02.004 10.1016/j.pneurobio.2011.07.004 Leon MJ, 1993, The radiologic prediction of Alzheimer disease: the atrophic hippocampal formation, AJNR Am J Neuroradiol, 14, 897 10.1016/S0140-6736(06)69113-7 10.1016/S0197-4580(97)00056-0 10.1073/pnas.191044198 10.1097/00005072-199812000-00009 10.1212/WNL.46.3.707 10.1002/1531-8249(199903)45:3<358::AID-ANA12>3.0.CO;2-X 10.1016/S1474-4422(07)70178-3 10.1212/WNL.0b013e3181cb3e25 Torpy JM, 2009, JAMA patient page. Mild cognitive impairment, JAMA, 302, 452, 10.1001/jama.302.4.452 10.1016/j.bbadis.2008.07.008 10.1212/01.wnl.0000279336.36610.f7 10.1212/WNL.0b013e318245f447 10.1097/NEN.0b013e31824b211b 10.1056/NEJMoa1304839 10.1016/j.expneurol.2009.09.024 10.1038/nrd3115 10.1038/nrneurol.2010.4 10.1016/S0197-4580(01)00230-5 10.2967/jnumed.107.040675 10.1101/cshperspect.a006213 10.1016/j.jalz.2012.05.2116 10.1016/j.jalz.2011.03.005 10.1016/S1474-4422(03)00530-1 10.1101/cshperspect.a006221 10.1212/01.WNL.0000046581.81650.D0 10.1001/archneurol.2008.596 10.1212/WNL.0b013e3182563bd0 10.1002/ana.20730 10.1002/emmm.200900048 10.1016/j.neurobiolaging.2007.03.029 10.1212/WNL.0b013e3181bc010c 10.2967/jnumed.109.064360 10.1016/S0304-3940(01)02285-6 10.1002/ana.10661 10.1093/brain/awl269 10.1159/000216841 10.1002/gps.2353 10.1002/gps.2195 10.1016/j.neulet.2007.03.064 Mattsson N, 2012, Longitudinal cerebrospinal fluid biomarkers over four years in mild cognitive impairment, J Alzheimers Dis, 30, 767, 10.3233/JAD-2012-120019 10.3233/JAD-2007-12307 10.1016/S0304-3940(99)00617-5 10.1016/S1474-4422(09)70299-6 10.1016/S1474-4422(12)70291-0 10.1136/jnnp.2006.100529 10.1159/000068478 10.1056/NEJMoa1202753 10.1159/000335729 10.1007/s00401-013-1139-0 10.1001/archneur.60.12.1696 10.1016/j.neurobiolaging.2005.07.003 10.1001/archneur.64.3.noc60123 10.1001/archneurol.2011.105 10.1016/S1474-4422(03)00530-1 10.1002/ana.21610 10.1016/j.neurobiolaging.2007.08.010 10.1080/15622970701535502 10.1016/S1474-4422(06)70355-6 10.1212/01.wnl.0000267428.62582.aa 10.1001/jama.2009.1064 10.1001/archneurol.2009.55 10.1016/S1474-4422(13)70194-7 10.1159/000105017 10.1016/S0197-4580(98)00022-0 10.1001/archneur.56.6.673 10.1373/clinchem.2004.039347 10.1373/clinchem.2006.081679 10.1034/j.1600-0404.107.s179.9.x 10.1016/j.neulet.2006.07.009 10.1258/acb.2009.008232 Teunissen CE, 2010, Standardization of assay procedures for analysis of the CSF biomarkers amyloid beta(1‐42), tau, and phosphorylated tau in Alzheimer's disease: report of an International Workshop, Int J Alzheimers Dis, 2010 10.1016/j.jalz.2011.05.2243 10.2217/bmm.12.46 10.1016/S1474-4422(10)70223-4 10.2217/bmm.09.83 10.1007/s00702-009-0277-y Teipel SJ, 2013, Perspectives for multimodal neurochemical and imaging biomarkers in Alzheimer's disease, J Alzheimers Dis, 33, S329, 10.3233/JAD-2012-129030 10.1093/brain/awq204 10.1602/neurorx.1.2.213 10.1016/S0304-3940(00)01697-9 10.1212/01.wnl.0000242732.06714.0f 10.1038/sj.mp.4001220 10.1136/bmj.326.7379.41 10.1097/WAD.0b013e31821300bc 10.1037/0894-4105.22.4.469 10.1016/j.expneurol.2009.07.024 10.1038/mp.2008.84 10.3122/jabfm.2012.03.100181 DWilkinson ASganga CStave BO'Connell.Implications of the Facing Dementia Survey for health care professionals across Europe.Int J Clin Pract Suppl2005;27–31 10.1093/fampra/cml068 10.1159/000311703 10.2174/156720509788486509 Alzheimer's Disease Neuroimaging Initiative. Available at:http://adni.loni.usc.edu last accessed 4 February 2014. European Medicines Agency.Qualification opinion of Alzheimer's disease.Novel methodologies/biomarkers for BMS‐708163.2011. Available at:http://www.ema.europa.eu/docs/en_GB/document_library/Regulatory_and_procedural_guideline/2011/02/WC500102018.pdf last accessed 4 February 2014. 10.1016/j.jalz.2011.03.003 10.1212/WNL.0b013e3181af79fb 10.3174/ajnr.A1809 10.1016/j.neurobiolaging.2011.12.017 Brys M, 2009, Magnetic resonance imaging improves cerebrospinal fluid biomarkers in the early detection of Alzheimer's disease, J Alzheimers Dis, 16, 351, 10.3233/JAD-2009-0968 10.1196/annals.1379.012 Leon MJ, 2002, Longitudinal cerebrospinal fluid tau load increases in mild cognitive impairment, Neurosci Lett, 333, 183, 10.1016/S0304-3940(02)01038-8 Quinn JF, 2004, Suppression of longitudinal increase in CSF F2‐isoprostanes in Alzheimer's disease, J Alzheimers Dis, 6, 93, 10.3233/JAD-2004-6110 10.1002/ana.23908 10.1111/j.1532-5415.2007.01600.x Mattsson N, 2010, To know or not to know: ethical issues related to early diagnosis of Alzheimer's disease, Int J Alzheimers Dis, 2010 10.1212/01.WNL.0000148604.77591.67 10.1016/j.neurobiolaging.2009.12.026 10.1016/S1474-4422(09)70139-5 10.1385/MN:24:1-3:087