Strategic roadmap for an early diagnosis of Alzheimer's disease based on biomarkers

被引:477
作者
Frisoni, Giovanni B. [2 ,3 ]
Boccardi, Marina [2 ,8 ]
Barkhof, Frederik [10 ,12 ,13 ,15 ]
Blennow, Kaj [16 ,17 ,18 ]
Cappa, Stefano [10 ,19 ,20 ]
Chiotis, Konstantinos [21 ]
Demonet, Jean-Francois [24 ]
Garibotto, Valentina [4 ]
Giannakopoulos, Panteleimon [1 ]
Gietl, Anton [25 ]
Hansson, Oskar [26 ,28 ]
Herholz, Karl [29 ]
Jack, Clifford R., Jr. [30 ]
Nobili, Flavio [31 ,32 ,33 ]
Nordberg, Agneta [21 ,34 ]
Snyder, Heather M. [36 ]
Ten Kate, Mara [11 ]
Varrone, Andrea [22 ]
Albanese, Emiliano [1 ]
Becker, Stefanie [14 ]
Bossuyt, Patrick [37 ,38 ]
Carrillo, Maria C. [36 ]
Cerami, Chiara [39 ,40 ]
Dubois, Bruno [41 ]
Gallo, Valentina [42 ]
Giacobini, Ezio [5 ]
Gold, Gabriel [6 ]
Hurst, Samia [7 ]
Loenneborg, Anders [28 ]
Lovblad, Karl-Olof [43 ]
Mattsson, Niklas [26 ,27 ,28 ]
Molinuevo, Jose-Luis [46 ]
Monsch, Andreas U. [47 ]
Mosimann, Urs [48 ]
Padovani, Alessandro [49 ]
Picco, Agnese [2 ]
Porteri, Corinna [9 ]
Ratib, Osman [44 ,45 ]
Saint-Aubert, Laure [21 ]
Scerri, Charles [50 ,51 ]
Scheltens, Philip [11 ]
Schott, Jonathan M. [12 ]
Sonni, Ida [23 ,52 ]
Teipel, Stefan [53 ,54 ]
Vineis, Paolo [55 ]
Visser, Pieter Jelle [11 ,56 ]
Yasui, Yutaka [57 ]
Winblad, Bengt [34 ,35 ,58 ]
机构
[1] Univ Hosp, Dept Psychiat, Geneva, Switzerland
[2] Univ Hosp, Lab Neuroimaging Aging LANVIE, Geneva, Switzerland
[3] Univ Hosp, Dept Internal Med, Geneva, Switzerland
[4] Univ Hosp, Nucl Med & Mol Imaging Div, Geneva, Switzerland
[5] Univ Hosp, Dept Internal Med, Geneva, Switzerland
[6] Univ Hosp, Serv Geriatr, Dept Internal Med Rehabil & Geriatr, Geneva, Switzerland
[7] Univ Hosp, Inst Eth Hist & Humanities, Geneva, Switzerland
[8] IRCCS S Giovanni di Diofatebenefratelli, LANE, Brescia, Italy
[9] IRCCS S Giovanni di Diofatebenefratelli, Bioeth Unit, Brescia, Italy
[10] Vrije Univ Amsterdam, Med Ctr, Dept Radiol & Nucl Med, Amsterdam, Netherlands
[11] Vrije Univ Amsterdam, Med Ctr, Dept Neurol, Alzheimer Ctr, Amsterdam, Netherlands
[12] UCL, Inst Neurol, London, England
[13] UCL, Inst Healthcare Engn, London, England
[14] Alzheimers Switzerland, Yverdon, Switzerland
[15] European Soc Neuroradiol, Zurich, Switzerland
[16] Univ Gothenburg, Sahlgrenska Acad, Dept Psychiat & Neurochem, Inst Neurosci & Physiol, Gothenburg, Sweden
[17] Sahlgrens Univ Hosp, Clin Neurochem Lab, Molndal, Sweden
[18] Int Federat Clin Chem & Lab Med Working Grp CSF P, Gothenburg, Sweden
[19] Ist Univ Studi Super Pavia, Pavia, Italy
[20] Federat European Neuropsychol Soc, Maastricht, Netherlands
[21] Karolinska Inst, Dept Neurobiol Care Sci & Soc, Ctr Alzheimer Res Translat Alzheimer Neurobiol, Stockholm, Sweden
[22] Karolinska Inst, Dept Clin Neurosci, Ctr Psychiat Res, Stockholm, Sweden
[23] Karolinska Inst, PET Ctr, Dept Clin Neurosci, Stockholm, Sweden
[24] CHU Vaudois, Leenards Memory Ctr, Dept Clin Neurosci, Lausanne, Switzerland
[25] Univ Zurich, Inst Regenerat Med IREM, Campus Schlieren, Zurich, Switzerland
[26] Skane Univ Hosp, Memory Clin, Lund, Sweden
[27] Skane Univ Hosp, Dept Neurol, Lund, Sweden
[28] Lund Univ, Clin Memory Res Unit, Dept Clin Sci Malmo, Lund, Sweden
[29] Univ Manchester, Div Neurosci & Expt Psychol, Manchester, Lancs, England
[30] Mayo Clin, Dept Radiol, Rochester, MN USA
[31] Univ Genoa, Dept Neurosci DINOGMI, Genoa, Italy
[32] IRCCS AOU San Martino IST, Genoa, Italy
[33] European Assoc Nucl Med, Vienna, Austria
[34] Karolinska Univ, Huddinge Hosp, Dept Geriatr Med, Stockholm, Sweden
[35] Karolinska Inst, Dept Neurobiol Care Siences & Soc, Ctr Alzheimer Res, Div Neurogeriatr, Huddinge, Sweden
[36] Alzheimers Assoc, Chicago, IL USA
[37] Univ Amsterdam, Clin Epidemiol, Amsterdam, Netherlands
[38] European Federat Lab Med, Milan, Italy
[39] Univ Vita Salute San Raffaele, Clin Neurosci Dept, Milan, Italy
[40] Ist Sci San Raffaele, Div Neurosci, Milan, Italy
[41] UPMC Univ Paris 6, Hop Pitie Salpetriere, Inst Memoire & Maladie Alzheimer, Paris, France
[42] Queen Mary Univ London, Ctr Primary Care & Publ Hlth, Barts & London Sch Med, Blizard Inst, London, England
[43] Univ Hosp Geneva, Diagnost & Intervent Neuroradiol, Geneva, Switzerland
[44] Univ Hosp Geneva, Dept Radiol, Geneva, Switzerland
[45] Univ Hosp Geneva, Div Nucl Med, Geneva, Switzerland
[46] Pasqual Maragall Fdn, Barcelona Beta Brain Res Ctr, Barcelona, Spain
[47] Felix Platter Hosp, Univ Ctr Med Ageing, Memory Clin, Basel, Switzerland
[48] Univ Bern, Dept Old Age Psychiat, Bern, Switzerland
[49] Univ Brescia, Fac Med, Dept Clin Neurosci, Brescia, Italy
[50] Univ Malta, Fac Med & Surg, Dept Pathol, Msida, Malta
基金
瑞士国家科学基金会;
关键词
5-PHASE DEVELOPMENT FRAMEWORK; MILD COGNITIVE IMPAIRMENT; POSITRON-EMISSION-TOMOGRAPHY; CEREBROSPINAL-FLUID BIOMARKERS; CLINICAL VALIDITY; ASSOCIATION WORKGROUPS; NATIONAL INSTITUTE; TAU PATHOLOGY; AMYLOID PET; TASK-FORCE;
D O I
10.1016/S1474-4422(17)30159-X
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The diagnosis of Alzheimer's disease can be improved by the use of biological measures. Biomarkers of functional impairment, neuronal loss, and protein deposition that can be assessed by neuroimaging (ie, MRI and PET) or CSF analysis are increasingly being used to diagnose Alzheimer's disease in research studies and specialist clinical settings. However, the validation of the clinical usefulness of these biomarkers is incomplete, and that is hampering reimbursement for these tests by health insurance providers, their widespread clinical implementation, and improvements in quality of health care. We have developed a strategic five-phase roadmap to foster the clinical validation of biomarkers in Alzheimer's disease, adapted from the approach for cancer biomarkers. Sufficient evidence of analytical validity (phase 1 of a structured framework adapted from oncology) is available for all biomarkers, but their clinical validity (phases 2 and 3) and clinical utility (phases 4 and 5) are incomplete. To complete these phases, research priorities include the standardisation of the readout of these assays and thresholds for normality, the evaluation of their performance in detecting early disease, the development of diagnostic algorithms comprising combinations of biomarkers, and the development of clinical guidelines for the use of biomarkers in qualified memory clinics.
引用
收藏
页码:661 / 676
页数:16
相关论文
共 97 条
[31]   Tangle and neuron numbers, but not amyloid load, predict cognitive status in Alzheimer's disease [J].
Giannakopoulos, P ;
Herrmann, FR ;
Bussière, T ;
Bouras, C ;
Kövari, E ;
Perl, DP ;
Morrison, JH ;
Gold, G ;
Hof, PR .
NEUROLOGY, 2003, 60 (09) :1495-1500
[32]   ABNORMAL PHOSPHORYLATION OF THE MICROTUBULE-ASSOCIATED PROTEIN-TAU (TAU) IN ALZHEIMER CYTOSKELETAL PATHOLOGY [J].
GRUNDKEIQBAL, I ;
IQBAL, K ;
TUNG, YC ;
QUINLAN, M ;
WISNIEWSKI, HM ;
BINDER, LI .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (13) :4913-4917
[33]   Recommendations from the Italian Interdisciplinary Working Group (AIMN, AIP, SINDEM) for the utilization of amyloid imaging in clinical practice [J].
Guerra, Ugo Paolo ;
Nobili, Flavio Mariano ;
Padovani, Alessandro ;
Perani, Daniela ;
Pupi, Alberto ;
Sorbi, Sandro ;
Trabucchi, Marco .
NEUROLOGICAL SCIENCES, 2015, 36 (06) :1075-1081
[34]  
Haute Autorite de sante, 2011, REC BONN PRAT MAL AL
[35]   Biomarker validation and testing [J].
Hayes, Daniel F. .
MOLECULAR ONCOLOGY, 2015, 9 (05) :960-966
[36]   Discrimination between Alzheimer dementia and controls by automated analysis of multicenter FDG PET [J].
Herholz, K ;
Salmon, E ;
Perani, D ;
Baron, JC ;
Holthoff, V ;
Frölich, L ;
Schönknecht, P ;
Ito, K ;
Mielke, R ;
Kalbe, E ;
Zündorf, G ;
Delbeuck, X ;
Pelati, O ;
Anchisi, D ;
Fazio, F ;
Kerrouche, N ;
Desgranges, B ;
Eustache, F ;
Beuthien-Baumann, B ;
Menzel, C ;
Schröder, J ;
Kato, T ;
Arahata, Y ;
Henze, M ;
Heiss, WD .
NEUROIMAGE, 2002, 17 (01) :302-316
[37]   Use of cerebrospinal fluid biomarkers in diagnosis of dementia across Europe [J].
Hort, J. ;
Bartos, A. ;
Pirttila, T. ;
Scheltens, P. .
EUROPEAN JOURNAL OF NEUROLOGY, 2010, 17 (01) :90-96
[38]   Accelerating rates of cognitive decline and imaging markers associated with -amyloid pathology [J].
Insel, Philip S. ;
Mattsson, Niklas ;
Mackin, R. Scott ;
Scholl, Michael ;
Nosheny, Rachel L. ;
Tosun, Duygu ;
Donohue, Michael C. ;
Aisen, Paul S. ;
Jagust, William J. ;
Weiner, Michael W. .
NEUROLOGY, 2016, 86 (20) :1887-1896
[39]   Early role of vascular dysregulation on late-onset Alzheimer's disease based on multifactorial data-driven analysis [J].
Iturria-Medina, Y. ;
Sotero, R. C. ;
Toussaint, P. J. ;
Mateos-Perez, J. M. ;
Evans, A. C. .
NATURE COMMUNICATIONS, 2016, 7
[40]   IIC PiB and structural MRI provide complementary information in imaging of Alzheimers disease and amnestic mild cognitive impairment [J].
Jack, Clifford R., Jr. ;
Lowe, Val J. ;
Senjem, Matthew L. ;
Weigand, Stephen D. ;
Kemp, Bradley J. ;
Shiung, Maria M. ;
Knopman, David S. ;
Boeve, Bradley F. ;
Klunk, William E. ;
Mathis, Chester A. ;
Petersen, Ronald C. .
BRAIN, 2008, 131 :665-680