Skip to main content
Top
Published in: Acta Neuropathologica 3/2010

01-09-2010 | Review

Biomarker discovery for Alzheimer’s disease, frontotemporal lobar degeneration, and Parkinson’s disease

Authors: William T. Hu, Alice Chen-Plotkin, Steven E. Arnold, Murray Grossman, Christopher M. Clark, Leslie M. Shaw, Leo McCluskey, Lauren Elman, Jason Karlawish, Howard I. Hurtig, Andrew Siderowf, Virginia M.-Y. Lee, Holly Soares, John Q. Trojanowski

Published in: Acta Neuropathologica | Issue 3/2010

Login to get access

Abstract

Ante-mortem diagnosis of neurodegenerative disorders based on clinical features alone is associated with variable sensitivity and specificity, and biomarkers can potentially improve the accuracy of clinical diagnosis. In patients suspected of having Alzheimer’s disease (AD), alterations in cerebrospinal fluid (CSF) biomarkers that reflect the neuropathologic changes of AD strongly support the diagnosis, although there is a trade-off between sensitivity and specificity due to similar changes in cognitively healthy subjects. Here, we review the current approaches in using CSF AD biomarkers (total tau, p-tau181, and Aβ42) to predict the presence of AD pathology, and our recent work using multi-analyte profiling to derive novel biomarkers for biofluid-based AD diagnosis. We also review our use of the multi-analyte profiling strategy to identify novel biomarkers that can distinguish between subtypes of frontotemporal lobar degeneration, and those at risk of developing cognitive impairment in Parkinson’s disease. Multi-analyte profiling is a powerful tool for biomarker discovery in complex neurodegenerative disorders, and analytes associated with one or more diseases may shed light on relevant biological pathways and potential targets for intervention.
Literature
1.
go back to reference Aarsland D, Andersen K, Larsen JP, Lolk A, Kragh-Sorensen P (2003) Prevalence and characteristics of dementia in Parkinson disease: an 8-year prospective study. Arch Neurol 60:387–392CrossRefPubMed Aarsland D, Andersen K, Larsen JP, Lolk A, Kragh-Sorensen P (2003) Prevalence and characteristics of dementia in Parkinson disease: an 8-year prospective study. Arch Neurol 60:387–392CrossRefPubMed
2.
go back to reference Abdi F, Quinn JF, Jankovic J et al (2006) Detection of biomarkers with a multiplex quantitative proteomic platform in cerebrospinal fluid of patients with neurodegenerative disorders. J Alzheimers Dis 9:293–348PubMed Abdi F, Quinn JF, Jankovic J et al (2006) Detection of biomarkers with a multiplex quantitative proteomic platform in cerebrospinal fluid of patients with neurodegenerative disorders. J Alzheimers Dis 9:293–348PubMed
3.
go back to reference Amonkar SD, Bertenshaw GP, Chen TH et al (2009) Development and preliminary evaluation of a multivariate index assay for ovarian cancer. PLoS One 4:e4599CrossRefPubMed Amonkar SD, Bertenshaw GP, Chen TH et al (2009) Development and preliminary evaluation of a multivariate index assay for ovarian cancer. PLoS One 4:e4599CrossRefPubMed
4.
go back to reference Annunziato F, Cosmi L, Liotta F, Maggi E, Romagnani S (2009) Type 17 T helper cells-origins, features and possible roles in rheumatic disease. Nat Rev Rheumatol 5:325–331CrossRefPubMed Annunziato F, Cosmi L, Liotta F, Maggi E, Romagnani S (2009) Type 17 T helper cells-origins, features and possible roles in rheumatic disease. Nat Rev Rheumatol 5:325–331CrossRefPubMed
5.
go back to reference The National Institute on Aging, Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer’s Disease (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer’s disease. Neurobiol Aging 18:S1–S2CrossRef The National Institute on Aging, Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer’s Disease (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer’s disease. Neurobiol Aging 18:S1–S2CrossRef
6.
go back to reference APA (2010) DSM-5: the future of psychiatric diagnosis. APA APA (2010) DSM-5: the future of psychiatric diagnosis. APA
7.
go back to reference Apostolova LG, Hwang KS, Andrawis JP et al (2010) 3D PIB and CSF biomarker associations with hippocampal atrophy in ADNI subjects. Neurobiol Aging 31(8):1284–1303 Apostolova LG, Hwang KS, Andrawis JP et al (2010) 3D PIB and CSF biomarker associations with hippocampal atrophy in ADNI subjects. Neurobiol Aging 31(8):1284–1303
8.
go back to reference Bahl JM, Heegaard NH, Falkenhorst G et al (2009) The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer’s disease. Neurobiol Aging 30:1834–1841CrossRefPubMed Bahl JM, Heegaard NH, Falkenhorst G et al (2009) The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer’s disease. Neurobiol Aging 30:1834–1841CrossRefPubMed
9.
go back to reference Bergmann L (1965) The value of CSF-analysis in the diagnosis of MS. Acta Neurol Scand Suppl 13:559–561PubMed Bergmann L (1965) The value of CSF-analysis in the diagnosis of MS. Acta Neurol Scand Suppl 13:559–561PubMed
10.
go back to reference Bertenshaw GP, Yip P, Seshaiah P et al (2008) Multianalyte profiling of serum antigens and autoimmune and infectious disease molecules to identify biomarkers dysregulated in epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev 17:2872–2881CrossRefPubMed Bertenshaw GP, Yip P, Seshaiah P et al (2008) Multianalyte profiling of serum antigens and autoimmune and infectious disease molecules to identify biomarkers dysregulated in epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev 17:2872–2881CrossRefPubMed
11.
go back to reference Bian H, Van Swieten JC, Leight S et al (2008) CSF biomarkers in frontotemporal lobar degeneration with known pathology. Neurology 70:1827–1835CrossRefPubMed Bian H, Van Swieten JC, Leight S et al (2008) CSF biomarkers in frontotemporal lobar degeneration with known pathology. Neurology 70:1827–1835CrossRefPubMed
12.
go back to reference Bibl M, Mollenhauer B, Esselmann H et al (2006) CSF amyloid-beta-peptides in Alzheimer’s disease, dementia with Lewy bodies and Parkinson’s disease dementia. Brain 129:1177–1187CrossRefPubMed Bibl M, Mollenhauer B, Esselmann H et al (2006) CSF amyloid-beta-peptides in Alzheimer’s disease, dementia with Lewy bodies and Parkinson’s disease dementia. Brain 129:1177–1187CrossRefPubMed
13.
go back to reference Brookmeyer R, Johnson E, Ziegler-Graham K, Arrighi HM (2007) Forecasting the global burden of Alzheimer’s disease. Alzheimers Dement 3:186–191CrossRefPubMed Brookmeyer R, Johnson E, Ziegler-Graham K, Arrighi HM (2007) Forecasting the global burden of Alzheimer’s disease. Alzheimers Dement 3:186–191CrossRefPubMed
14.
go back to reference Brown MP, Grundy WN, Lin D et al (2000) Knowledge-based analysis of microarray gene expression data by using support vector machines. Proc Natl Acad Sci USA 97:262–267CrossRefPubMed Brown MP, Grundy WN, Lin D et al (2000) Knowledge-based analysis of microarray gene expression data by using support vector machines. Proc Natl Acad Sci USA 97:262–267CrossRefPubMed
15.
go back to reference Buerger K, Ewers M, Pirttila T et al (2006) CSF phosphorylated tau protein correlates with neocortical neurofibrillary pathology in Alzheimer’s disease. Brain 129:3035–3041CrossRefPubMed Buerger K, Ewers M, Pirttila T et al (2006) CSF phosphorylated tau protein correlates with neocortical neurofibrillary pathology in Alzheimer’s disease. Brain 129:3035–3041CrossRefPubMed
16.
go back to reference Buerger K, Frisoni G, Uspenskaya O et al (2009) Validation of Alzheimer’s disease CSF and plasma biological markers: the multicentre reliability study of the pilot European Alzheimer’s Disease Neuroimaging Initiative (E-ADNI). Exp Gerontol 44:579–585CrossRefPubMed Buerger K, Frisoni G, Uspenskaya O et al (2009) Validation of Alzheimer’s disease CSF and plasma biological markers: the multicentre reliability study of the pilot European Alzheimer’s Disease Neuroimaging Initiative (E-ADNI). Exp Gerontol 44:579–585CrossRefPubMed
17.
go back to reference Buter TC, van den Hout A, Matthews FE, Larsen JP, Brayne C, Aarsland D (2008) Dementia and survival in Parkinson disease: a 12-year population study. Neurology 70:1017–1022CrossRefPubMed Buter TC, van den Hout A, Matthews FE, Larsen JP, Brayne C, Aarsland D (2008) Dementia and survival in Parkinson disease: a 12-year population study. Neurology 70:1017–1022CrossRefPubMed
18.
go back to reference Cairns NJ, Bigio EH, Mackenzie IR et al (2007) Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114:5–22CrossRefPubMed Cairns NJ, Bigio EH, Mackenzie IR et al (2007) Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114:5–22CrossRefPubMed
19.
go back to reference Castano EM, Roher AE, Esh CL, Kokjohn TA, Beach T (2006) Comparative proteomics of cerebrospinal fluid in neuropathologically-confirmed Alzheimer’s disease and non-demented elderly subjects. Neurol Res 28:155–163CrossRefPubMed Castano EM, Roher AE, Esh CL, Kokjohn TA, Beach T (2006) Comparative proteomics of cerebrospinal fluid in neuropathologically-confirmed Alzheimer’s disease and non-demented elderly subjects. Neurol Res 28:155–163CrossRefPubMed
20.
go back to reference Chen-Plotkin AS, Geser F, Plotkin JB et al (2008) Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration. Hum Mol Genet 17:1349–1362CrossRefPubMed Chen-Plotkin AS, Geser F, Plotkin JB et al (2008) Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration. Hum Mol Genet 17:1349–1362CrossRefPubMed
21.
go back to reference Clark CM, Xie S, Chittams J et al (2003) Cerebrospinal fluid tau and beta-amyloid: how well do these biomarkers reflect autopsy-confirmed dementia diagnoses? Arch Neurol 60:1696–1702CrossRefPubMed Clark CM, Xie S, Chittams J et al (2003) Cerebrospinal fluid tau and beta-amyloid: how well do these biomarkers reflect autopsy-confirmed dementia diagnoses? Arch Neurol 60:1696–1702CrossRefPubMed
22.
go back to reference Clifford DB, Fagan AM, Holtzman DM et al (2009) CSF biomarkers of Alzheimer disease in HIV-associated neurologic disease. Neurology 73:1982–1987CrossRefPubMed Clifford DB, Fagan AM, Holtzman DM et al (2009) CSF biomarkers of Alzheimer disease in HIV-associated neurologic disease. Neurology 73:1982–1987CrossRefPubMed
23.
go back to reference Compta Y, Marti MJ, Ibarretxe-Bilbao N et al (2009) Cerebrospinal tau, phospho-tau, and beta-amyloid and neuropsychological functions in Parkinson’s disease. Mov Disord 24:2203–2210CrossRefPubMed Compta Y, Marti MJ, Ibarretxe-Bilbao N et al (2009) Cerebrospinal tau, phospho-tau, and beta-amyloid and neuropsychological functions in Parkinson’s disease. Mov Disord 24:2203–2210CrossRefPubMed
24.
go back to reference Delaleu N, Immervoll H, Cornelius J, Jonsson R (2008) Biomarker profiles in serum and saliva of experimental Sjogren’s syndrome: associations with specific autoimmune manifestations. Arthritis Res Ther 10:R22CrossRefPubMed Delaleu N, Immervoll H, Cornelius J, Jonsson R (2008) Biomarker profiles in serum and saliva of experimental Sjogren’s syndrome: associations with specific autoimmune manifestations. Arthritis Res Ther 10:R22CrossRefPubMed
25.
go back to reference Ellis KA, Bush AI, Darby D et al (2009) The Australian Imaging, Biomarkers and Lifestyle (AIBL) study of aging: methodology and baseline characteristics of 1112 individuals recruited for a longitudinal study of Alzheimer’s disease. Int Psychogeriatr 21:672–687CrossRefPubMed Ellis KA, Bush AI, Darby D et al (2009) The Australian Imaging, Biomarkers and Lifestyle (AIBL) study of aging: methodology and baseline characteristics of 1112 individuals recruited for a longitudinal study of Alzheimer’s disease. Int Psychogeriatr 21:672–687CrossRefPubMed
26.
go back to reference Engelborghs S, Sleegers K, Cras P et al (2007) No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer’s disease. Brain 130:2320–2326CrossRefPubMed Engelborghs S, Sleegers K, Cras P et al (2007) No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer’s disease. Brain 130:2320–2326CrossRefPubMed
27.
go back to reference Fagan AM, Mintun MA, Shah AR et al (2009) Cerebrospinal fluid tau and ptau(181) increase with cortical amyloid deposition in cognitively normal individuals: implications for future clinical trials of Alzheimer’s disease. EMBO Mol Med 1:371–380CrossRefPubMed Fagan AM, Mintun MA, Shah AR et al (2009) Cerebrospinal fluid tau and ptau(181) increase with cortical amyloid deposition in cognitively normal individuals: implications for future clinical trials of Alzheimer’s disease. EMBO Mol Med 1:371–380CrossRefPubMed
28.
go back to reference Fagan AM, Roe CM, Xiong C, Mintun MA, Morris JC, Holtzman DM (2007) Cerebrospinal fluid tau/beta-amyloid(42) ratio as a prediction of cognitive decline in nondemented older adults. Arch Neurol 64:343–349CrossRefPubMed Fagan AM, Roe CM, Xiong C, Mintun MA, Morris JC, Holtzman DM (2007) Cerebrospinal fluid tau/beta-amyloid(42) ratio as a prediction of cognitive decline in nondemented older adults. Arch Neurol 64:343–349CrossRefPubMed
29.
go back to reference Finehout EJ, Franck Z, Choe LH, Relkin N, Lee KH (2007) Cerebrospinal fluid proteomic biomarkers for Alzheimer’s disease. Ann Neurol 61:120–129CrossRefPubMed Finehout EJ, Franck Z, Choe LH, Relkin N, Lee KH (2007) Cerebrospinal fluid proteomic biomarkers for Alzheimer’s disease. Ann Neurol 61:120–129CrossRefPubMed
30.
go back to reference Fleisher AS, Raman R, Siemers ER et al (2008) Phase 2 safety trial targeting amyloid beta production with a gamma-secretase inhibitor in Alzheimer disease. Arch Neurol 65:1031–1038CrossRefPubMed Fleisher AS, Raman R, Siemers ER et al (2008) Phase 2 safety trial targeting amyloid beta production with a gamma-secretase inhibitor in Alzheimer disease. Arch Neurol 65:1031–1038CrossRefPubMed
31.
go back to reference Forman MS, Farmer J, Johnson JK et al (2006) Frontotemporal dementia: clinicopathological correlations. Ann Neurol 59:952–962CrossRefPubMed Forman MS, Farmer J, Johnson JK et al (2006) Frontotemporal dementia: clinicopathological correlations. Ann Neurol 59:952–962CrossRefPubMed
32.
go back to reference Foulds P, McAuley E, Gibbons L et al (2008) TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degeneration. Acta Neuropathol 116:141–146CrossRefPubMed Foulds P, McAuley E, Gibbons L et al (2008) TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degeneration. Acta Neuropathol 116:141–146CrossRefPubMed
33.
go back to reference Fujishiro H, Ferman TJ, Boeve BF et al (2008) Validation of the neuropathologic criteria of the third consortium for dementia with Lewy bodies for prospectively diagnosed cases. J Neuropathol Exp Neurol 67:649–656CrossRefPubMed Fujishiro H, Ferman TJ, Boeve BF et al (2008) Validation of the neuropathologic criteria of the third consortium for dementia with Lewy bodies for prospectively diagnosed cases. J Neuropathol Exp Neurol 67:649–656CrossRefPubMed
34.
go back to reference Gisslen M, Krut J, Andreasson U et al (2009) Amyloid and tau cerebrospinal fluid biomarkers in HIV infection. BMC Neurol 9:63CrossRefPubMed Gisslen M, Krut J, Andreasson U et al (2009) Amyloid and tau cerebrospinal fluid biomarkers in HIV infection. BMC Neurol 9:63CrossRefPubMed
35.
go back to reference Golub TR, Slonim DK, Tamayo P et al (1999) Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science 286:531–537CrossRefPubMed Golub TR, Slonim DK, Tamayo P et al (1999) Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science 286:531–537CrossRefPubMed
36.
go back to reference Gray H (1912) History of lumbar puncture (rachicentesis). Arch Neurol Psychiatry 6:61–69 Gray H (1912) History of lumbar puncture (rachicentesis). Arch Neurol Psychiatry 6:61–69
37.
go back to reference Grossman M, Farmer J, Leight S et al (2005) Cerebrospinal fluid profile in frontotemporal dementia and Alzheimer’s disease. Ann Neurol 57:721–729CrossRefPubMed Grossman M, Farmer J, Leight S et al (2005) Cerebrospinal fluid profile in frontotemporal dementia and Alzheimer’s disease. Ann Neurol 57:721–729CrossRefPubMed
38.
go back to reference Gurbel PA, Kreutz RP, Bliden KP, DiChiara J, Tantry US (2008) Biomarker analysis by fluorokine multianalyte profiling distinguishes patients requiring intervention from patients with long-term quiescent coronary artery disease: a potential approach to identify atherosclerotic disease progression. Am Heart J 155:56–61CrossRefPubMed Gurbel PA, Kreutz RP, Bliden KP, DiChiara J, Tantry US (2008) Biomarker analysis by fluorokine multianalyte profiling distinguishes patients requiring intervention from patients with long-term quiescent coronary artery disease: a potential approach to identify atherosclerotic disease progression. Am Heart J 155:56–61CrossRefPubMed
39.
go back to reference Gustafson DR, Skoog I, Rosengren L, Zetterberg H, Blennow K (2007) Cerebrospinal fluid beta-amyloid 1–42 concentration may predict cognitive decline in older women. J Neurol Neurosurg Psychiatry 78:461–464CrossRefPubMed Gustafson DR, Skoog I, Rosengren L, Zetterberg H, Blennow K (2007) Cerebrospinal fluid beta-amyloid 1–42 concentration may predict cognitive decline in older women. J Neurol Neurosurg Psychiatry 78:461–464CrossRefPubMed
40.
go back to reference Hely MA, Reid WG, Adena MA, Halliday GM, Morris JG (2008) The Sydney multicenter study of Parkinson’s disease: the inevitability of dementia at 20 years. Mov Disord 23:837–844CrossRefPubMed Hely MA, Reid WG, Adena MA, Halliday GM, Morris JG (2008) The Sydney multicenter study of Parkinson’s disease: the inevitability of dementia at 20 years. Mov Disord 23:837–844CrossRefPubMed
41.
go back to reference Hodges JR, Davies RR, Xuereb JH et al (2004) Clinicopathological correlates in frontotemporal dementia. Ann Neurol 56:399–406CrossRefPubMed Hodges JR, Davies RR, Xuereb JH et al (2004) Clinicopathological correlates in frontotemporal dementia. Ann Neurol 56:399–406CrossRefPubMed
42.
go back to reference Hu WT, Chen-Plotkin A, Arnold SE et al (2010) Novel CSF biomarkers for Alzheimer’s disease and mild cognitive impairment. Acta Neuropathol 119:669–678CrossRefPubMed Hu WT, Chen-Plotkin A, Arnold SE et al (2010) Novel CSF biomarkers for Alzheimer’s disease and mild cognitive impairment. Acta Neuropathol 119:669–678CrossRefPubMed
43.
go back to reference Hu WT, Chen-Plotkin A, Grossman M et al (2010) Novel CSF biomarkers for frontotemporal lobar degenerations. Neurology (in press) Hu WT, Chen-Plotkin A, Grossman M et al (2010) Novel CSF biomarkers for frontotemporal lobar degenerations. Neurology (in press)
44.
go back to reference Hu WT, Mandrekar JN, Parisi JE et al (2007) Clinical features of pathologic subtypes of behavioral-variant frontotemporal dementia. Arch Neurol 64:1611–1616CrossRefPubMed Hu WT, Mandrekar JN, Parisi JE et al (2007) Clinical features of pathologic subtypes of behavioral-variant frontotemporal dementia. Arch Neurol 64:1611–1616CrossRefPubMed
45.
go back to reference Hu WT, McMillan C, Libon DJ et al (2010) Multi-modal predictors for Alzheimer’s disease in non-fluent primary progressive aphasia. Neurology (in press) Hu WT, McMillan C, Libon DJ et al (2010) Multi-modal predictors for Alzheimer’s disease in non-fluent primary progressive aphasia. Neurology (in press)
46.
go back to reference Hu WT, Seelaar H, Josephs KA et al (2009) Survival profiles of patients with frontotemporal dementia and motor neuron disease. Arch Neurol 66:1359–1364CrossRefPubMed Hu WT, Seelaar H, Josephs KA et al (2009) Survival profiles of patients with frontotemporal dementia and motor neuron disease. Arch Neurol 66:1359–1364CrossRefPubMed
48.
go back to reference Jack CR Jr, Knopman DS, Jagust WJ et al (2010) Hypothetical model of dynamic biomarkers of the Alzheimer’s pathological cascade. Lancet Neurol 9:119–128CrossRefPubMed Jack CR Jr, Knopman DS, Jagust WJ et al (2010) Hypothetical model of dynamic biomarkers of the Alzheimer’s pathological cascade. Lancet Neurol 9:119–128CrossRefPubMed
49.
go back to reference Kasuga K, Tokutake T, Ishikawa A et al (2010) Differential levels of alpha-synuclein, beta-amyloid42, tau in CSF between patients with dementia with Lewy bodies, Alzheimer’s disease. J Neurol Neurosurg Psychiatry 81:608–610CrossRefPubMed Kasuga K, Tokutake T, Ishikawa A et al (2010) Differential levels of alpha-synuclein, beta-amyloid42, tau in CSF between patients with dementia with Lewy bodies, Alzheimer’s disease. J Neurol Neurosurg Psychiatry 81:608–610CrossRefPubMed
50.
go back to reference Koster MP, Pennings JL, Imholz S et al (2009) Bead-based multiplexed immunoassays to identify new biomarkers in maternal serum to improve first trimester Down syndrome screening. Prenat Diagn 29:857–862CrossRefPubMed Koster MP, Pennings JL, Imholz S et al (2009) Bead-based multiplexed immunoassays to identify new biomarkers in maternal serum to improve first trimester Down syndrome screening. Prenat Diagn 29:857–862CrossRefPubMed
51.
go back to reference Ladogana A, Sanchez-Juan P, Mitrova E et al (2009) Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol 256:1620–1628CrossRefPubMed Ladogana A, Sanchez-Juan P, Mitrova E et al (2009) Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol 256:1620–1628CrossRefPubMed
52.
go back to reference Lewczuk P, Beck G, Ganslandt O et al (2006) International quality control survey of neurochemical dementia diagnostics. Neurosci Lett 409:1–4CrossRefPubMed Lewczuk P, Beck G, Ganslandt O et al (2006) International quality control survey of neurochemical dementia diagnostics. Neurosci Lett 409:1–4CrossRefPubMed
53.
go back to reference Lippa CF, Duda JE, Grossman M et al (2007) DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 68:812–819CrossRefPubMed Lippa CF, Duda JE, Grossman M et al (2007) DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 68:812–819CrossRefPubMed
54.
go back to reference Lui JK, Laws SM, Li QX et al (2010) Plasma amyloid-beta as a biomarker in Alzheimer’s disease: the AIBL Study of Aging. J Alzheimers Dis 20(4):1233–1242 Lui JK, Laws SM, Li QX et al (2010) Plasma amyloid-beta as a biomarker in Alzheimer’s disease: the AIBL Study of Aging. J Alzheimers Dis 20(4):1233–1242
55.
go back to reference Mattsson N, Zetterberg H, Hansson O et al (2009) CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment. JAMA 302:385–393CrossRefPubMed Mattsson N, Zetterberg H, Hansson O et al (2009) CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment. JAMA 302:385–393CrossRefPubMed
56.
go back to reference Miller DJ, Wang Y, Kesidis G (2008) Emergent unsupervised clustering paradigms with potential application to bioinformatics. Front Biosci 13:677–690CrossRefPubMed Miller DJ, Wang Y, Kesidis G (2008) Emergent unsupervised clustering paradigms with potential application to bioinformatics. Front Biosci 13:677–690CrossRefPubMed
57.
go back to reference Mollenhauer B, Cullen V, Kahn I et al (2008) Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration. Exp Neurol 213:315–325CrossRefPubMed Mollenhauer B, Cullen V, Kahn I et al (2008) Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration. Exp Neurol 213:315–325CrossRefPubMed
58.
go back to reference Morris JC, Roe CM, Xiong C et al (2010) APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging. Ann Neurol 67:122–131CrossRefPubMed Morris JC, Roe CM, Xiong C et al (2010) APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging. Ann Neurol 67:122–131CrossRefPubMed
59.
go back to reference Nettiksimmons J, Harvey D, Brewer J et al (2010) Subtypes based on cerebrospinal fluid and magnetic resonance imaging markers in normal elderly predict cognitive decline. Neurobiol Aging 31(8):1419–1428 Nettiksimmons J, Harvey D, Brewer J et al (2010) Subtypes based on cerebrospinal fluid and magnetic resonance imaging markers in normal elderly predict cognitive decline. Neurobiol Aging 31(8):1419–1428
60.
go back to reference Neumann M, Kwong LK, Lee EB et al (2009) Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. Acta Neuropathol 117:137–149CrossRefPubMed Neumann M, Kwong LK, Lee EB et al (2009) Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. Acta Neuropathol 117:137–149CrossRefPubMed
61.
go back to reference Ohrfelt A, Grognet P, Andreasen N et al (2009) Cerebrospinal fluid alpha-synuclein in neurodegenerative disorders-a marker of synapse loss? Neurosci Lett 450:332–335CrossRefPubMed Ohrfelt A, Grognet P, Andreasen N et al (2009) Cerebrospinal fluid alpha-synuclein in neurodegenerative disorders-a marker of synapse loss? Neurosci Lett 450:332–335CrossRefPubMed
62.
go back to reference Pang H, Zhao H (2008) Building pathway clusters from Random Forests classification using class votes. BMC Bioinform 9:87CrossRef Pang H, Zhao H (2008) Building pathway clusters from Random Forests classification using class votes. BMC Bioinform 9:87CrossRef
63.
go back to reference Pennings JL, Koster MP, Rodenburg W, Schielen PC, de Vries A (2009) Discovery of novel serum biomarkers for prenatal Down syndrome screening by integrative data mining. PLoS One 4:e8010CrossRefPubMed Pennings JL, Koster MP, Rodenburg W, Schielen PC, de Vries A (2009) Discovery of novel serum biomarkers for prenatal Down syndrome screening by integrative data mining. PLoS One 4:e8010CrossRefPubMed
64.
go back to reference Portelius E, Dean RA, Gustavsson MK et al (2010) A novel Abeta isoform pattern in CSF reflects gamma-secretase inhibition in Alzheimer disease. Alzheimers Res Ther 2:7CrossRefPubMed Portelius E, Dean RA, Gustavsson MK et al (2010) A novel Abeta isoform pattern in CSF reflects gamma-secretase inhibition in Alzheimer disease. Alzheimers Res Ther 2:7CrossRefPubMed
65.
go back to reference Ray S, Britschgi M, Herbert C et al (2007) Classification and prediction of clinical Alzheimer’s diagnosis based on plasma signaling proteins. Nat Med 13:1359–1362CrossRefPubMed Ray S, Britschgi M, Herbert C et al (2007) Classification and prediction of clinical Alzheimer’s diagnosis based on plasma signaling proteins. Nat Med 13:1359–1362CrossRefPubMed
66.
go back to reference Reijn TS, Rikkert MO, van Geel WJ, de Jong D, Verbeek MM (2007) Diagnostic accuracy of ELISA and xMAP technology for analysis of amyloid beta(42) and tau proteins. Clin Chem 53:859–865CrossRefPubMed Reijn TS, Rikkert MO, van Geel WJ, de Jong D, Verbeek MM (2007) Diagnostic accuracy of ELISA and xMAP technology for analysis of amyloid beta(42) and tau proteins. Clin Chem 53:859–865CrossRefPubMed
67.
go back to reference Saeys Y, Inza I, Larranaga P (2007) A review of feature selection techniques in bioinformatics. Bioinformatics 23:2507–2517CrossRefPubMed Saeys Y, Inza I, Larranaga P (2007) A review of feature selection techniques in bioinformatics. Bioinformatics 23:2507–2517CrossRefPubMed
68.
go back to reference Shaw LM, Korecka M, Clark CM, Lee VM, Trojanowski JQ (2007) Biomarkers of neurodegeneration for diagnosis and monitoring therapeutics. Nat Rev Drug Discov 6:295–303CrossRefPubMed Shaw LM, Korecka M, Clark CM, Lee VM, Trojanowski JQ (2007) Biomarkers of neurodegeneration for diagnosis and monitoring therapeutics. Nat Rev Drug Discov 6:295–303CrossRefPubMed
69.
go back to reference Shaw LM, Vanderstichele H, Knapik-Czajka M et al (2009) Cerebrospinal fluid biomarker signature in Alzheimer’s disease neuroimaging initiative subjects. Ann Neurol 65:403–413CrossRefPubMed Shaw LM, Vanderstichele H, Knapik-Czajka M et al (2009) Cerebrospinal fluid biomarker signature in Alzheimer’s disease neuroimaging initiative subjects. Ann Neurol 65:403–413CrossRefPubMed
70.
go back to reference Siderowf A, Xie SX, Hurtig H et al (2010) CSF amyloid beta 1-42 predicts cognitive decline in Parkinson’s disease. Ann Neurol (in press) Siderowf A, Xie SX, Hurtig H et al (2010) CSF amyloid beta 1-42 predicts cognitive decline in Parkinson’s disease. Ann Neurol (in press)
71.
go back to reference Steinacker P, Hendrich C, Sperfeld AD et al (2008) TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 65:1481–1487CrossRefPubMed Steinacker P, Hendrich C, Sperfeld AD et al (2008) TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 65:1481–1487CrossRefPubMed
72.
go back to reference Steinacker P, Mollenhauer B, Bibl M et al (2004) Heart fatty acid binding protein as a potential diagnostic marker for neurodegenerative diseases. Neurosci Lett 370:36–39CrossRefPubMed Steinacker P, Mollenhauer B, Bibl M et al (2004) Heart fatty acid binding protein as a potential diagnostic marker for neurodegenerative diseases. Neurosci Lett 370:36–39CrossRefPubMed
73.
go back to reference Stern Y, Marder K, Tang MX, Mayeux R (1993) Antecedent clinical features associated with dementia in Parkinson’s disease. Neurology 43:1690–1692PubMed Stern Y, Marder K, Tang MX, Mayeux R (1993) Antecedent clinical features associated with dementia in Parkinson’s disease. Neurology 43:1690–1692PubMed
74.
go back to reference Stomrud E, Hansson O, Blennow K, Minthon L, Londos E (2007) Cerebrospinal fluid biomarkers predict decline in subjective cognitive function over 3 years in healthy elderly. Dement Geriatr Cogn Disord 24:118–124CrossRefPubMed Stomrud E, Hansson O, Blennow K, Minthon L, Londos E (2007) Cerebrospinal fluid biomarkers predict decline in subjective cognitive function over 3 years in healthy elderly. Dement Geriatr Cogn Disord 24:118–124CrossRefPubMed
75.
go back to reference Tibshirani R, Hastie T, Narasimhan B, Chu G (2002) Diagnosis of multiple cancer types by shrunken centroids of gene expression. Proc Natl Acad Sci USA 99:6567–6572CrossRefPubMed Tibshirani R, Hastie T, Narasimhan B, Chu G (2002) Diagnosis of multiple cancer types by shrunken centroids of gene expression. Proc Natl Acad Sci USA 99:6567–6572CrossRefPubMed
76.
go back to reference Trojanowski JQ, Vandeerstichele H, Korecka M et al (2010) Update on the biomarker core of the Alzheimer’s Disease Neuroimaging Initiative subjects. Alzheimers Dement 6:230–238CrossRefPubMed Trojanowski JQ, Vandeerstichele H, Korecka M et al (2010) Update on the biomarker core of the Alzheimer’s Disease Neuroimaging Initiative subjects. Alzheimers Dement 6:230–238CrossRefPubMed
77.
go back to reference Uc EY, McDermott MP, Marder KS et al (2009) Incidence of and risk factors for cognitive impairment in an early Parkinson disease clinical trial cohort. Neurology 73:1469–1477CrossRefPubMed Uc EY, McDermott MP, Marder KS et al (2009) Incidence of and risk factors for cognitive impairment in an early Parkinson disease clinical trial cohort. Neurology 73:1469–1477CrossRefPubMed
78.
go back to reference van Eersel J, Bi M, Ke YD et al (2009) Phosphorylation of soluble tau differs in Pick’s disease and Alzheimer’s disease brains. J Neural Transm 116:1243–1251CrossRefPubMed van Eersel J, Bi M, Ke YD et al (2009) Phosphorylation of soluble tau differs in Pick’s disease and Alzheimer’s disease brains. J Neural Transm 116:1243–1251CrossRefPubMed
79.
go back to reference Verwey NA, van der Flier WM, Blennow K et al (2009) A worldwide multicentre comparison of assays for cerebrospinal fluid biomarkers in Alzheimer’s disease. Ann Clin Biochem 46:235–240CrossRefPubMed Verwey NA, van der Flier WM, Blennow K et al (2009) A worldwide multicentre comparison of assays for cerebrospinal fluid biomarkers in Alzheimer’s disease. Ann Clin Biochem 46:235–240CrossRefPubMed
80.
go back to reference Walhovd KB, Fjell AM, Brewer J et al (2010) Combining MR imaging, positron-emission tomography, and CSF biomarkers in the diagnosis and prognosis of Alzheimer disease. Am J Neuroradiol 31:347–354 Walhovd KB, Fjell AM, Brewer J et al (2010) Combining MR imaging, positron-emission tomography, and CSF biomarkers in the diagnosis and prognosis of Alzheimer disease. Am J Neuroradiol 31:347–354
81.
go back to reference Zhang H, Yu CY, Singer B (2003) Cell and tumor classification using gene expression data: construction of forests. Proc Natl Acad Sci USA 100:4168–4172CrossRefPubMed Zhang H, Yu CY, Singer B (2003) Cell and tumor classification using gene expression data: construction of forests. Proc Natl Acad Sci USA 100:4168–4172CrossRefPubMed
82.
go back to reference Zhang J, Sokal I, Peskind ER et al (2008) CSF multianalyte profile distinguishes Alzheimer and Parkinson diseases. Am J Clin Pathol 129:526–529CrossRefPubMed Zhang J, Sokal I, Peskind ER et al (2008) CSF multianalyte profile distinguishes Alzheimer and Parkinson diseases. Am J Clin Pathol 129:526–529CrossRefPubMed
Metadata
Title
Biomarker discovery for Alzheimer’s disease, frontotemporal lobar degeneration, and Parkinson’s disease
Authors
William T. Hu
Alice Chen-Plotkin
Steven E. Arnold
Murray Grossman
Christopher M. Clark
Leslie M. Shaw
Leo McCluskey
Lauren Elman
Jason Karlawish
Howard I. Hurtig
Andrew Siderowf
Virginia M.-Y. Lee
Holly Soares
John Q. Trojanowski
Publication date
01-09-2010
Publisher
Springer-Verlag
Published in
Acta Neuropathologica / Issue 3/2010
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-010-0723-9

Other articles of this Issue 3/2010

Acta Neuropathologica 3/2010 Go to the issue