Molecular biomarkers of Alzheimer's disease: progress and prospects
Tóm tắt
Từ khóa
Tài liệu tham khảo
Abdelnour, 2016, Alzheimer's disease cerebrospinal fluid biomarkers predict cognitive decline in lewy body dementia, Mov. Disord., 31, 1203, 10.1002/mds.26668
Andreasson, 2016, Update on ultrasensitive technologies to facilitate research on blood biomarkers for central nervous system disorders, Alzheimers Dement., 3, 98, 10.1016/j.dadm.2016.05.005
Barbour, 2008, Red blood cells are the major source of alpha-synuclein in blood, Neurodegener. Dis., 5, 55, 10.1159/000112832
Bateman, 2012, Clinical and biomarker changes in dominantly inherited Alzheimer's disease, N. Engl. J. Med., 367, 795, 10.1056/NEJMoa1202753
Bereczki, 2016, Synaptic proteins predict cognitive decline in Alzheimer's disease and Lewy body dementia, Alzheimers Dement., 12, 1149, 10.1016/j.jalz.2016.04.005
Blennow, 2010, Cerebrospinal fluid and plasma biomarkers in Alzheimer disease, Nat. Rev. Neurol., 6, 131, 10.1038/nrneurol.2010.4
Blennow, 2015, Amyloid biomarkers in Alzheimer's disease, Trends Pharmacol. Sci., 36, 297, 10.1016/j.tips.2015.03.002
Brinkmalm, 2014, SNAP-25 is a promising novel cerebrospinal fluid biomarker for synapse degeneration in Alzheimer's disease, Mol. Neurodegener., 9, 53, 10.1186/1750-1326-9-53
Buerger, 2006, CSF phosphorylated tau protein correlates with neocortical neurofibrillary pathology in Alzheimer's disease, Brain, 129, 3035, 10.1093/brain/awl269
Burnham, 2016, Predicting Alzheimer disease from a blood-based biomarker profile: a 54-month follow-up, Neurology, 87, 1093, 10.1212/WNL.0000000000003094
Chhatwal, 2016, Temporal T807 binding correlates with CSF tau and phospho-tau in normal elderly, Neurology, 87, 920, 10.1212/WNL.0000000000003050
Cirrito, 2005, Synaptic activity regulates interstitial fluid amyloid-beta levels in vivo, Neuron, 48, 913, 10.1016/j.neuron.2005.10.028
Corrêa, 2011, Chemokines in CSF of Alzheimer's disease patients, Arq. Neuropsiquiatr., 69, 455, 10.1590/S0004-282X2011000400009
Craig-Schapiro, 2010, YKL-40: a novel prognostic fluid biomarker for preclinical Alzheimer's disease, Biol. Psychiatry, 68, 903, 10.1016/j.biopsych.2010.08.025
de Jong, 2007, CSF neurofilament proteins in the differential diagnosis of dementia, J. Neurol. Neurosurg. Psychiatry, 78, 936, 10.1136/jnnp.2006.107326
De Vos, 2015, C-terminal neurogranin is increased in cerebrospinal fluid but unchanged in plasma in Alzheimer's disease, Alzheimers Dement., 11, 1461, 10.1016/j.jalz.2015.05.012
Dubois, 2014, Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria, Lancet Neurol., 13, 614, 10.1016/S1474-4422(14)70090-0
Fairfoul, 2016, Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies, Ann. Clin. Transl. Neurol., 3, 812, 10.1002/acn3.338
Feneberg, 2014, Limited role of free TDP-43 as a diagnostic tool in neurodegenerative diseases, Amyotroph. Lateral Scler. Frontotemporal. Degener., 15, 351, 10.3109/21678421.2014.905606
Finnema, 2016, Imaging synaptic density in the living human brain, Sci. Transl. Med., 8, 348ra96, 10.1126/scitranslmed.aaf6667
Fodero-Tavoletti, 2009, In vitro characterisation of BF227 binding to alpha-synuclein/Lewy bodies, Eur. J. Pharmacol., 617, 54, 10.1016/j.ejphar.2009.06.042
Galimberti, 2006, Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease, Arch. Neurol., 63, 538, 10.1001/archneur.63.4.538
Galimberti, 2006, Intrathecal chemokine levels in Alzheimer disease and frontotemporal lobar degeneration, Neurology, 66, 146, 10.1212/01.wnl.0000191324.08289.9d
Grundke-Iqbal, 1986, Abnormal phosphorylation of the microtubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology, Proc. Natl. Acad. Sci. USA, 83, 4913, 10.1073/pnas.83.13.4913
Guerreiro, 2013, TREM2 variants in Alzheimer's disease, N. Engl. J. Med., 368, 117, 10.1056/NEJMoa1211851
Hall, 2012, Accuracy of a panel of 5 cerebrospinal fluid biomarkers in the differential diagnosis of patients with dementia and/or parkinsonian disorders, Arch. Neurol., 69, 1445, 10.1001/archneurol.2012.1654
Hansson, 2014, Levels of cerebrospinal fluid alpha-synuclein oligomers are increased in Parkinson's disease with dementia and dementia with Lewy bodies compared to Alzheimer's disease, Alzheimers Res. Ther., 6, 25, 10.1186/alzrt255
Hellwig, 2015, Neurogranin and YKL-40: independent markers of synaptic degeneration and neuroinflammation in Alzheimer's disease, Alzheimers Res. Ther., 7, 74, 10.1186/s13195-015-0161-y
Herukka, 2017, Recommendations for cerebrospinal fluid Alzheimer's disease biomarkers in the diagnostic evaluation of mild cognitive impairment, Alzheimers Dement., 13, 285, 10.1016/j.jalz.2016.09.009
Heslegrave, 2016, Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease, Mol. Neurodegener., 11, 3, 10.1186/s13024-016-0071-x
Hesse, 2001, Transient increase in total tau but not phospho-tau in human cerebrospinal fluid after acute stroke, Neurosci. Lett., 297, 187, 10.1016/S0304-3940(00)01697-9
Hong, 2010, DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease, Brain, 133, 713, 10.1093/brain/awq008
Hyman, 2012, National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease, Alzheimers Dement., 8, 1, 10.1016/j.jalz.2011.10.007
Jack, 2013, Biomarker modeling of Alzheimer's disease, Neuron, 80, 1347, 10.1016/j.neuron.2013.12.003
James, 2016, TDP-43 stage, mixed pathologies, and clinical Alzheimer's-type dementia, Brain, 139, 2983, 10.1093/brain/aww224
Janelidze, 2016, Plasma beta-amyloid in Alzheimer's disease and vascular disease, Sci. Rep., 6, 26801, 10.1038/srep26801
Jonsson, 2013, Variant of TREM2 associated with the risk of Alzheimer's disease, N. Engl. J. Med., 368, 107, 10.1056/NEJMoa1211103
Kaneko, 2014, Novel plasma biomarker surrogating cerebral amyloid deposition, Proc. Jpn. Acad. Ser. B Phys. Biol. Sci., 90, 353, 10.2183/pjab.90.353
Kapaki, 2013, The diagnostic value of CSF alpha-synuclein in the differential diagnosis of dementia with Lewy bodies vs. normal subjects and patients with Alzheimer's disease, PLoS ONE, 8, e81654, 10.1371/journal.pone.0081654
Kester, 2015, Neurogranin as a cerebrospinal fluid biomarker for synaptic loss in symptomatic Alzheimer disease, JAMA Neurol., 72, 1275, 10.1001/jamaneurol.2015.1867
Kikuchi, 2010, In vivo visualization of alpha-synuclein deposition by carbon-11-labelled 2-[2-(2-dimethylaminothiazol-5-yl)ethenyl]-6-[2-(fluoro)ethoxy]benzoxazole positron emission tomography in multiple system atrophy, Brain, 133, 1772, 10.1093/brain/awq091
Klunk, 2004, Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B, Ann. Neurol., 55, 306, 10.1002/ana.20009
Kolb, 2017, Tau positron emission tomography imaging, Cold Spring Harb. Perspect. Biol., 9, a023721, 10.1101/cshperspect.a023721
Kovacs, 2016, Molecular pathological classification of neurodegenerative diseases: turning towards precision medicine, Int. J. Mol. Sci., 17, 189, 10.3390/ijms17020189
Kuhlmann, 2016, CSF Abeta1-42 - an excellent but complicated Alzheimer's biomarker - a route to standardisation, Clin. Chim. Acta, 467, 27, 10.1016/j.cca.2016.05.014
Kvartsberg, 2015, Cerebrospinal fluid levels of the synaptic protein neurogranin correlates with cognitive decline in prodromal Alzheimer's disease, Alzheimers Dement., 11, 1180, 10.1016/j.jalz.2014.10.009
Kvartsberg, 2015, Characterization of the postsynaptic protein neurogranin in paired cerebrospinal fluid and plasma samples from Alzheimer's disease patients and healthy controls, Alzheimers Res. Ther., 7, 40, 10.1186/s13195-015-0124-3
Lagarde, 2017, In vivo PET imaging of neuroinflammation in Alzheimer's disease, J. Neural. Transm. (Vienna), 125, 847, 10.1007/s00702-017-1731-x
Landqvist Waldö, 2013, Cerebrospinal fluid neurofilament light chain protein levels in subtypes of frontotemporal dementia, BMC Neurol., 13, 54, 10.1186/1471-2377-13-54
Lashley, 2008, Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patients, Acta Neuropathol., 115, 417, 10.1007/s00401-007-0336-0
Lue, 2015, TREM2 protein expression changes correlate with Alzheimer's disease neurodegenerative pathologies in post-mortem temporal cortices, Brain Pathol., 25, 469, 10.1111/bpa.12190
Magdalinou, 2015, A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes, J. Neurol. Neurosurg. Psychiatry, 86, 1240, 10.1136/jnnp-2014-309562
Marquié, 2015, Validating novel tau positron emission tomography tracer [F-18]-AV-1451 (T807) on postmortem brain tissue, Ann. Neurol., 78, 787, 10.1002/ana.24517
Masters, 1985, Amyloid plaque core protein in Alzheimer disease and Down syndrome, Proc. Natl. Acad. Sci. USA, 82, 4245, 10.1073/pnas.82.12.4245
Mattsson, 2011, Cerebrospinal fluid microglial markers in Alzheimer's disease: elevated chitotriosidase activity but lack of diagnostic utility, Neuromolecular Med., 13, 151, 10.1007/s12017-011-8147-9
Mattsson, 2016, Selective vulnerability in neurodegeneration: insights from clinical variants of Alzheimer's disease, J. Neurol. Neurosurg. Psychiatry, 87, 1000, 10.1136/jnnp-2015-311321
Mattsson, 2017, (18)F-AV-1451 and CSF T-tau and P-tau as biomarkers in Alzheimer's disease, EMBO Mol. Med., 9, 1212, 10.15252/emmm.201707809
Mollenhauer, 2010, Quantification of alpha-synuclein in cerebrospinal fluid as a biomarker candidate: review of the literature and considerations for future studies, Biomark. Med., 4, 683, 10.2217/bmm.10.90
Mollenhauer, 2011, alpha-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study, Lancet Neurol., 10, 230, 10.1016/S1474-4422(11)70014-X
Morbelli, 2018, Amyloid PET imaging: standardization and integration with other Alzheimer's disease biomarkers, Methods Mol. Biol., 1750, 203, 10.1007/978-1-4939-7704-8_13
Nakamura, 2018, High performance plasma amyloid-beta biomarkers for Alzheimer's disease, Nature, 554, 249, 10.1038/nature25456
Oeckl, 2016, Alpha-, Beta-, and gamma-synuclein quantification in cerebrospinal fluid by multiple reaction monitoring reveals increased concentrations in Alzheimer's and Creutzfeldt-Jakob disease but no alteration in synucleinopathies, Mol. Cell. Proteomics, 15, 3126, 10.1074/mcp.M116.059915
Öhrfelt, 2009, Cerebrospinal fluid alpha-synuclein in neurodegenerative disorders-a marker of synapse loss?, Neurosci. Lett., 450, 332, 10.1016/j.neulet.2008.11.015
Öhrfelt, 2016, Soluble TREM-2 in cerebrospinal fluid from patients with multiple sclerosis treated with natalizumab or mitoxantrone, Mult. Scler., 22, 1587, 10.1177/1352458515624558
Olsson, 2013, Microglial markers are elevated in the prodromal phase of Alzheimer's disease and vascular dementia, J. Alzheimers Dis., 33, 45, 10.3233/JAD-2012-120787
Olsson, 2016, CSF and blood biomarkers for the diagnosis of Alzheimer's disease: a systematic review and meta-analysis, Lancet Neurol., 15, 673, 10.1016/S1474-4422(16)00070-3
Ossenkoppele, 2016, Tau PET patterns mirror clinical and neuroanatomical variability in Alzheimer's disease, Brain, 139, 1551, 10.1093/brain/aww027
Ovod, 2017, Amyloid beta concentrations and stable isotope labeling kinetics of human plasma specific to central nervous system amyloidosis, Alzheimers Dement., 13, 841, 10.1016/j.jalz.2017.06.2266
Payoux, 2017, New PET markers for the diagnosis of dementia, Curr. Opin. Neurol., 30, 606, 10.1097/WCO.0000000000000489
Peluso, 2017, Immediate initiation of cART is associated with lower levels of cerebrospinal fluid YKL-40, a marker of microglial activation, in HIV-1 infection, AIDS, 31, 247, 10.1097/QAD.0000000000001314
Piccio, 2016, Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status, Acta Neuropathol., 131, 925, 10.1007/s00401-016-1533-5
Portelius, 2015, Cerebrospinal fluid neurogranin: relation to cognition and neurodegeneration in Alzheimer's disease, Brain, 138, 3373, 10.1093/brain/awv267
Ramont, 2005, Effects of hemolysis and storage condition on neuron-specific enolase (NSE) in cerebrospinal fluid and serum: implications in clinical practice, Clin. Chem. Lab. Med., 43, 1215, 10.1515/CCLM.2005.210
Rathore, 2017, A review on neuroimaging-based classification studies and associated feature extraction methods for Alzheimer's disease and its prodromal stages, Neuroimage, 155, 530, 10.1016/j.neuroimage.2017.03.057
Represa, 1990, Neurogranin: immunocytochemical localization of a brain-specific protein kinase C substrate, J. Neurosci., 10, 3782, 10.1523/JNEUROSCI.10-12-03782.1990
Riemenschneider, 2003, Phospho-tau/total tau ratio in cerebrospinal fluid discriminates Creutzfeldt-Jakob disease from other dementias, Mol. Psychiatry, 8, 343, 10.1038/sj.mp.4001220
Sander, 2016, Characterization of tau positron emission tomography tracer [18F]AV-1451 binding to postmortem tissue in Alzheimer's disease, primary tauopathies, and other dementias, Alzheimers Dement., 12, 1116, 10.1016/j.jalz.2016.01.003
Schmidt, 2015, The influence of biological and technical factors on quantitative analysis of amyloid PET: points to consider and recommendations for controlling variability in longitudinal data, Alzheimers Dement., 11, 1050, 10.1016/j.jalz.2014.09.004
Schneider, 2009, The neuropathology of probable Alzheimer disease and mild cognitive impairment, Ann. Neurol., 66, 200, 10.1002/ana.21706
Schöll, 2016, PET imaging of Tau deposition in the aging human brain, Neuron, 89, 971, 10.1016/j.neuron.2016.01.028
Schott, 2012, Alzheimer's disease: mimics and chameleons, Pract. Neurol., 12, 358, 10.1136/practneurol-2012-000315
Seppala, 2012, CSF biomarkers for Alzheimer disease correlate with cortical brain biopsy findings, Neurology, 78, 1568, 10.1212/WNL.0b013e3182563bd0
Shahnawaz, 2016, Development of a biochemical diagnosis of Parkinson disease by detection of alpha-Synuclein misfolded aggregates in cerebrospinal fluid, JAMA Neurol., 74, 163, 10.1001/jamaneurol.2016.4547
Shi, 2016, CNS tau efflux via exosomes is likely increased in Parkinson's disease but not in Alzheimer's disease, Alzheimers Dement., 12, 1125, 10.1016/j.jalz.2016.04.003
Simonsen, 2017, Recommendations for CSF AD biomarkers in the diagnostic evaluation of dementia, Alzheimers Dement., 13, 274, 10.1016/j.jalz.2016.09.008
Sjogren, 2000, Cytoskeleton proteins in CSF distinguish frontotemporal dementia from AD, Neurology, 54, 1960, 10.1212/WNL.54.10.1960
Skillback, 2014, CSF neurofilament light differs in neurodegenerative diseases and predicts severity and survival, Neurology, 83, 1945, 10.1212/WNL.0000000000001015
Slaets, 2014, Increased CSF alpha-synuclein levels in Alzheimer's disease: correlation with tau levels, Alzheimers Dement., 10, S290, 10.1016/j.jalz.2013.10.004
Smailagic, 2015, (1)(8)F-FDG PET for the early diagnosis of Alzheimer's disease dementia and other dementias in people with mild cognitive impairment (MCI), Cochrane Database Syst. Rev., 1, CD010632, 10.1002/14651858.CD010632.pub2
Steinacker, 2016, Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease, Sci. Rep., 6, 38737, 10.1038/srep38737
Suárez-Calvet, 2016, sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers, EMBO Mol. Med., 8, 466, 10.15252/emmm.201506123
Takahashi, 2005, Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2, J. Exp. Med., 201, 647, 10.1084/jem.20041611
Tarawneh, 2016, Diagnostic and prognostic utility of the synaptic marker neurogranin in Alzheimer disease, JAMA Neurol., 73, 561, 10.1001/jamaneurol.2016.0086
Tateno, 2012, Alpha-synuclein in the cerebrospinal fluid differentiates synucleinopathies (Parkinson Disease, dementia with Lewy bodies, multiple system atrophy) from Alzheimer disease, Alzheimer Dis. Assoc. Disord., 26, 213, 10.1097/WAD.0b013e31823899cc
Thorsell, 2010, Neurogranin in cerebrospinal fluid as a marker of synaptic degeneration in Alzheimer's disease, Brain Res., 1362, 13, 10.1016/j.brainres.2010.09.073
Tokuda, 2010, Detection of elevated levels of alpha-synuclein oligomers in CSF from patients with Parkinson disease, Neurology, 75, 1766, 10.1212/WNL.0b013e3181fd613b
Uchihara, 2016, Propagation of alpha-synuclein pathology: hypotheses, discoveries, and yet unresolved questions from experimental and human brain studies, Acta Neuropathol., 131, 49, 10.1007/s00401-015-1485-1
van Eijk, 2010, CSF neurofilament proteins levels are elevated in sporadic Creutzfeldt-Jakob disease, J. Alzheimers Dis., 21, 569, 10.3233/JAD-2010-090649
Voyle, 2015, Blood protein markers of neocortical amyloid-beta burden: a candidate study using SOMAscan technology, J. Alzheimers Dis., 46, 947, 10.3233/JAD-150020
Walker, 2015, Neurodegenerative diseases: expanding the prion concept, Annu. Rev. Neurosci., 38, 87, 10.1146/annurev-neuro-071714-033828
Wallin, 2010, CSF biomarkers predict a more malignant outcome in Alzheimer disease, Neurology, 74, 1531, 10.1212/WNL.0b013e3181dd4dd8
Watabe-Rudolph, 2012, Chitinase enzyme activity in CSF is a powerful biomarker of Alzheimer disease, Neurology, 78, 569, 10.1212/WNL.0b013e318247caa1
Wellington, 2016, Increased CSF neurogranin concentration is specific to Alzheimer disease, Neurology, 86, 829, 10.1212/WNL.0000000000002423
Wennström, 2013, Low CSF levels of both alpha-synuclein and the alpha-synuclein cleaving enzyme neurosin in patients with synucleinopathy, PLoS ONE, 8, e53250, 10.1371/journal.pone.0053250
Westwood, 2016, Blood-based biomarker candidates of cerebral amyloid using PiB PET in non-demented elderly, J. Alzheimers Dis., 52, 561, 10.3233/JAD-151155
Winblad, 2016, Defeating Alzheimer's disease and other dementias: a priority for European science and society, Lancet Neurol., 15, 455, 10.1016/S1474-4422(16)00062-4
Winston, 2016, Prediction of conversion from mild cognitive impairment to dementia with neuronally derived blood exosome protein profile, Alzheimers Dement., 3, 63, 10.1016/j.dadm.2016.04.001
Yin, 2009, Role of soluble CD14 in cerebrospinal fluid as a regulator of glial functions, J. Neurosci. Res., 87, 2578, 10.1002/jnr.22081
Zetterberg, 2015, Plasma amyloid beta-quo vadis?, Neurobiol. Aging, 36, 2671, 10.1016/j.neurobiolaging.2015.07.021
Zetterberg, 2016, Neurofilament light: a dynamic cross-disease fluid biomarker for neurodegeneration, Neuron, 91, 1, 10.1016/j.neuron.2016.06.030
Zetterberg, 2017, Review: Tau in biofluids - relation to pathology, imaging and clinical features, Neuropathol. Appl. Neurobiol., 43, 194, 10.1111/nan.12378
Zetterberg, 2013, Plasma tau levels in Alzheimer's disease, Alzheimers Res. Ther., 5, 9, 10.1186/alzrt163