Abstract
Original language | English |
---|---|
Pages (from-to) | 55-62 |
Number of pages | 8 |
Journal | Neurobiol. Aging |
Volume | 89 |
DOIs | |
Publication status | Published - 2020 |
Keywords
- Alzheimer's disease
- Apolipoprotein E
- CSF cutoff
- Disease progression
- Mild cognitive impairment
- amyloid beta protein[1-42]
- apolipoprotein E
- apolipoprotein E epsilon4
- tau protein
- unclassified drug
- amyloid beta protein
- amyloid beta-protein (1-42)
- biological marker
- peptide fragment
- age distribution
- aged
- Alzheimer disease
- Article
- brain atrophy
- cerebrospinal fluid
- cohort analysis
- controlled study
- diagnostic accuracy
- diagnostic test accuracy study
- early diagnosis
- female
- genotype
- heterozygote
- hippocampus
- human
- major clinical study
- male
- mild cognitive impairment
- neuroimaging
- priority journal
- protein cerebrospinal fluid level
- receiver operating characteristic
- sensitivity and specificity
- sex difference
- validity
- white matter lesion
- cognitive defect
- complication
- genetics
- very elderly
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Amyloid beta-Peptides
- Apolipoproteins E
- Biomarkers
- Cognitive Dysfunction
- Cohort Studies
- Female
- Heterozygote
- Humans
- Male
- Peptide Fragments
- tau Proteins
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CSF cutoffs for MCI due to AD depend on APOEε4 carrier status : Neurobiology of Aging. / Marizzoni, M.; Ferrari, C.; Babiloni, C.; Albani, D.; Barkhof, F.; Cavaliere, L.; Didic, M.; Forloni, G.; Fusco, F.; Galluzzi, S.; Hensch, T.; Jovicich, J.; Marra, C.; Molinuevo, J.L.; Nobili, F.; Parnetti, L.; Payoux, P.; Ranjeva, J.-P.; Ribaldi, F.; Rolandi, E.; Rossini, P.M.; Salvatore, M.; Soricelli, A.; Tsolaki, M.; Visser, P.J.; Wiltfang, J.; Richardson, J.C.; Bordet, R.; Blin, O.; Frisoni, G.B.
In: Neurobiol. Aging, Vol. 89, 2020, p. 55-62.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - CSF cutoffs for MCI due to AD depend on APOEε4 carrier status
T2 - Neurobiology of Aging
AU - Marizzoni, M.
AU - Ferrari, C.
AU - Babiloni, C.
AU - Albani, D.
AU - Barkhof, F.
AU - Cavaliere, L.
AU - Didic, M.
AU - Forloni, G.
AU - Fusco, F.
AU - Galluzzi, S.
AU - Hensch, T.
AU - Jovicich, J.
AU - Marra, C.
AU - Molinuevo, J.L.
AU - Nobili, F.
AU - Parnetti, L.
AU - Payoux, P.
AU - Ranjeva, J.-P.
AU - Ribaldi, F.
AU - Rolandi, E.
AU - Rossini, P.M.
AU - Salvatore, M.
AU - Soricelli, A.
AU - Tsolaki, M.
AU - Visser, P.J.
AU - Wiltfang, J.
AU - Richardson, J.C.
AU - Bordet, R.
AU - Blin, O.
AU - Frisoni, G.B.
N1 - Cited By :2 Export Date: 16 February 2021 CODEN: NEAGD Correspondence Address: Marizzoni, M.; Laboratory of Neuroimaging and Alzheimer's Epidemiology, via Pilastroni 4, Italy; email: mmarizzoni@fatebenefratelli.eu Chemicals/CAS: amyloid beta protein, 109770-29-8; Amyloid beta-Peptides; amyloid beta-protein (1-42); Apolipoproteins E; Biomarkers; Peptide Fragments; tau Proteins Funding details: 115009 Funding details: National Institute for Health Research, NIHR Funding details: Alzheimer's Association, AA, GEENA-Q-19-595850 Funding details: University College London Hospitals NHS Foundation Trust, UCLH Funding details: Seventh Framework Programme, FP7 Funding text 1: The research leading to the present results has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) for the Innovative Medicine Initiative under grant agreement n°115009 (Prediction of cognitive properties of new drug candidates for neurodegenerative diseases in early clinical development, PharmaCog) and from the Alzheimer's Association under grant agreement n° GEENA-Q-19-595850 (The dark side of APOE ε4: unraveling amyloid-independent effects in AD). FB is supported by the NIHR biomedical research centre at UCLH. References: Albert, M.S., Steven, D., Dickson, D., Dubois, B., Feldman, H.H., Fox, N.C., Gamst, A., Phelps, C.H., The diagnosis of mild cognitive impairment due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease (2011) Alzheimers Dement., 7, pp. 270-279; Altmann, A., Tian, L., Henderson, V.W., Greicius, M.D., Sex modifies the APOE-related risk of developing Alzheimer disease (2014) Ann. Neurol., 75, pp. 563-573; Andrews-Zwilling, Y., Bien-Ly, N., Xu, Q., Li, G., Bernardo, A., Yoon, S.Y., Zwilling, D., Huang, Y., Apolipoprotein E4 causes age- and tau-dependent impairment of GABAergic interneurons, leading to learning and memory deficits in mice (2010) J. Neurosci., 30, pp. 13707-13717; Bartlett, J.W., Frost, C., Mattsson, N., Skillbäck, T., Blennow, K., Zetterberg, H., Schott, J.M., Determining cut-points for Alzheimer's disease biomarkers: statistical issues, methods and challenges (2012) Biomark. Med., 6, pp. 391-400; Bertens, D., Tijms, B.M., Scheltens, P., Teunissen, C.E., Visser, P.J., Unbiased estimates of cerebrospinal fluid beta-amyloid 1-42 cutoffs in a large memory clinic population (2017) Alzheimers Res. Ther., 9, p. 8; Blennow, K., Zetterberg, H., Haass, C., Finucane, T., Semagacestat's fall: where next for AD therapies? (2013) Nat. Med., 19, pp. 1214-1215; Botha, H., Mantyh, W.G., Graff-Radford, J., Machulda, M.M., Przybelski, S.A., Wiste, H.J., Senjem, M.L., Jones, D.T., Tau-negative amnestic dementia masquerading as Alzheimer disease dementia (2018) Neurology, 90, pp. e940-e946; Bowman, G.L., Ascorbic acid, cognitive function, and Alzheimer's disease: a current review and future direction (2012) Biofactors, 38, pp. 114-122; Bu, G., Apolipoprotein E and its receptors in Alzheimer's disease: pathways, pathogenesis and therapy (2009) Nat. Rev. Neurosci., 10, pp. 333-344; Buchhave, P., Minthon, L., Zetterberg, H., Wallin, A.K., Blennow, K., Hansson, O., Cerebrospinal fluid levels of β-amyloid 1-42, but not of tau, are fully changed already 5 to 10 years before the onset of Alzheimer dementia (2012) Arch. Gen. Psychiatry, 69, pp. 98-106; Burnham, K.P., Anderson, D.R., Huyvaert, K.P., AIC model selection and multimodel inference in behavioral ecology: some background, observations, and comparisons (2011) Behav. Ecol. Sociobiol., 65, pp. 23-35; Buttini, M., Yu, G.-Q., Shockley, K., Huang, Y., Jones, B., Masliah, E., Mallory, M., Mucke, L., Modulation of Alzheimer-like synaptic and cholinergic deficits in transgenic mice by human apolipoprotein E depends on isoform, aging, and overexpression of amyloid beta peptides but not on plaque formation (2002) J. Neurosci., 22, pp. 10539-10548; Citron, M., Alzheimer's disease: strategies for disease modification (2010) Nat. Rev. Drug Discov., 9, pp. 387-398; Clark, C.M., Schneider, J.A., Bedell, B.J., Beach, T.G., Bilker, W.B., Mintun, M.A., Pontecorvo, M.J., Skovronsky, D.M., Use of florbetapir-PET for imaging beta-amyloid pathology (2011) JAMA, 305, pp. 275-283; De Meyer, G., Shapiro, F., Vanderstichele, H., Vanmechelen, E., Engelborghs, S., De Deyn, P.P., Coart, E., Trojanowski, J.Q., Diagnosis-independent alzheimer disease biomarker signature in cognitively normal elderly people (2010) Arch. Neurol., 67, p. 949; Dubois, B., Feldman, H.H., Jacova, C., Hampel, H., Molinuevo, J.L.J.L., Blennow, K., Dekosky, S.T., Cummings, J.L., Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria (2014) Lancet Neurol., 13, pp. 614-629; Duits, F.H., Teunissen, C.E., Bouwman, F.H., Visser, P.J., Mattsson, N., Zetterberg, H., Blennow, K., Van Der Flier, W.M., The cerebrospinal fluid “alzheimer profile”: easily said, but what does it mean? (2014) Alzheimers Dement., 10, pp. 713-723; Galluzzi, S., Marizzoni, M., Babiloni, C., Albani, D., Antelmi, L., Bagnoli, C., Bartres-Faz, D., Frisoni, G.B.B., Clinical and biomarker profiling of prodromal Alzheimer's disease in workpackage 5 of the Innovative Medicines Initiative PharmaCog project: a “European ADNI study (2016) J. Intern. Med., 279, pp. 576-591; Gibson, G.E., Haroutunian, V., Zhang, H., Park, L.C., Shi, Q., Lesser, M., Mohs, R.C., Blass, J.P., Mitochondrial damage in Alzheimer's disease varies with apolipoprotein E genotype (2000) Ann. Neurol., 48, pp. 297-303; Growdon, J.H., Locascio, J.J., Corkin, S., Gomez-Isla, T., Hyman, B.T., Apolipoprotein E genotype does not influence rates of cognitive decline in Alzheimer's disease (1996) Neurology, 47, pp. 444-448; Holland, D., Desikan, R.S., Dale, A.M., McEvoy, L.K., Higher rates of decline for women and apolipoprotein E epsilon4 carriers (2013) AJNR. Am. J. Neuroradiol., 34, pp. 2287-2293; Huang, Y., Liu, X.Q., Wyss-Coray, T., Brecht, W.J., Sanan, D.A., Mahley, R.W., Apolipoprotein E fragments present in Alzheimer's disease brains induce neurofibrillary tangle-like intracellular inclusions in neurons (2001) Proc. Natl. Acad. Sci. U. S. A., 98, pp. 8838-8843; Jack, C.R., Wiste, H.J., Weigand, S.D., Therneau, T.M., Lowe, V.J., Knopman, D.S., Gunter, J.L., Petersen, R.C., Defining imaging biomarker cut points for brain aging and Alzheimer's disease (2017) Alzheimers Dement., 13, pp. 205-216; Jack, C.R.J., Bennett, D.A., Blennow, K., Carrillo, M.C., Dunn, B., Haeberlein, S.B., Holtzman, D.M., Sperling, R., NIA-AA Research Framework: toward a biological definition of Alzheimer's disease (2018) Alzheimers Dement., 14, pp. 535-562; Ji, Z.S., Dennis Miranda, R., Newhouse, Y.M., Weisgraberyadong Huang, K.H., Mahley, R.W., Apolipoprotein E4 potentiates amyloid β peptide-induced lysosomal leakage and apoptosis in neuronal cells (2002) J. Biol. Chem., 277, pp. 21821-21828; Jiang, Q., Lee, C.Y.D., Mandrekar, S., Wilkinson, B., Cramer, P., Zelcer, N., Mann, K., Landreth, G.E., ApoE promotes the proteolytic degradation of Aβ (2008) Neuron, 58, pp. 681-693; Jicha, G.A., Parisi, J.E., Dickson, D.W., Johnson, K., Cha, R., Ivnik, R.J., Tangalos, E.G., Petersen, R.C., Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia (2006) Arch. Neurol., 63, pp. 674-681; Karran, E., Hardy, J., Antiamyloid therapy for alzheimer's disease — are we on the right road? (2014) N. Engl. J. Med., 370, pp. 377-378; Kester, M.I., Blankenstein, M.A., Bouwman, F.H., Van Elk, E.J., Scheltens, P., Van Der Flier, W.M., CSF biomarkers in alzheimer's disease and controls: associations with apoe genotype are modified by age (2009) J. Alzheimer's Dis., 16, pp. 601-607; Kok, E., Haikonen, S., Luoto, T., Huhtala, H., Goebeler, S., Haapasalo, H., Karhunen, P.J., Apolipoprotein E-dependent accumulation of alzheimer disease-related lesions begins in middle age (2009) Ann. Neurol., 65, pp. 650-657; Lautner, R., Palmqvist, S., Mattsson, N., Andreasson, U., Wallin, A., Pålsson, E., Jakobsson, J., Hansson, O., Apolipoprotein E genotype and the diagnostic accuracy of cerebrospinal fluid biomarkers for alzheimer disease (2014) JAMA Psychiatry, 71, p. 1183; Lehmann, S., Gabelle, A., Paquet, C., Can we rely only on ratios of cerebrospinal fluid biomarkers for AD biological diagnosis? (2015) Alzheimers Dement.; Lowe, V.J., Peller, P.J., Weigand, S.D., Quintero, C.M., Tosakulwong, N., Vemuri, P., Senjem, M.L., Petersen, R.C., Application of the national institute on aging-alzheimer's association AD criteria to ADNI (2013) Neurology, 80, pp. 2130-2137; Mattsson, N., Andreasson, U., Persson, S., Arai, H., Batish, S.D., Bernardini, S., Bocchio-Chiavetto, L., Blennow, K., The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers (2011) Alzheimers Dement., 7, pp. 386-395; Mattsson, N., Zetterberg, H., Hansson, O., Andreasen, N., Parnetti, L., Jonsson, M., Herukka, S.-K., Blennow, K., CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment (2009) JAMA, 302, pp. 385-393; Mazumdar, M., Glassman, J.R., Prognostic variables: categorizing a prognostic variable: review of methods, code for easy implementation and applications to decision-making about cancer treatments (2005) Tutorials in Biostatistics, Statistical Methods in Clinical Studies, pp. 187-208; Mckeith, I.G., Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium (2006) Neurology, 66, p. 1455; McKhann, G., Knopman, D.S., Chertkow, H., Hymann, B., Jack, C.R., Kawas, C., Klunk, W., Phelphs, C., The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging- Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease (2011) Alzheimers Dement., 7, pp. 263-269; McKhann, G.M., Albert, M.S., Grossman, M., Miller, B., Dickson, D., Trojanowski, J.Q., Clinical and pathological diagnosis of frontotemporal dementia: report of the work group on frontotemporal dementia and pick's disease (2001) Arch. Neurol., 58, pp. 1803-1809; Palmqvist, S., Zetterberg, H., Mattsson, N., Johansson, P., Minthon, L., Blennow, K., Olsson, M., Hansson, O., Detailed comparison of amyloid PET and CSF biomarkers for identifying early Alzheimer disease (2015) Neurology, 85, pp. 1240-1249; R: a language and environment for statistical computing (2015) R. Found. Stat. Comput., 1, p. 409; Ringman, J.M., Elashoff, D., Geschwind, D.H., Welsh, B.T., Gylys, K.H., Lee, C., Cummings, J.L., Cole, G.M., Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype (2012) Arch. Neurol., 69, pp. 757-764; Risacher, S.L., Kim, S., Shen, L., Nho, K., Foroud, T., Green, R.C., Petersen, R.C., Saykin, A.J., The role of apolipoprotein E (APOE) genotype in early mild cognitive impairment (E-MCI) (2013) Front. Aging Neurosci., 5, p. 11; Salloway, S., Sperling, R., Fox, N.C., Blennow, K., Klunk, W., Raskind, M., Sabbagh, M., Brashear, H.R., Two phase 3 trials of bapineuzumab in mild-to-moderate alzheimer's disease (2014) N. Engl. J. Med., 370, pp. 322-333; Schneider, J.A., Arvanitakis, Z., Bang, W., Bennett, D.A., Mixed brain pathologies account for most dementia cases in community-dwelling older persons (2007) Neurology, 69, pp. 2197-2204; Shaw, L.M., Vanderstichele, H., Knapik-Czajka, M., Clark, C.M., Aisen, P.S., Petersen, R.C., Blennow, K., Trojanowski, J.Q., Cerebrospinal fluid biomarker signature in alzheimer's disease neuroimaging initiative subjects (2009) Ann. Neurol., 65, pp. 403-413; Shi, Y., Yamada, K., Liddelow, S.A., Smith, S.T., Zhao, L., Luo, W., Tsai, R.M., Holtzman, D.M., ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy (2017) Nature, 549, pp. 523-527; Sunderland, T., Mirza, N., Putnam, K.T., Linker, G., Bhupali, D., Durham, R., Soares, H., Cohen, R.M., Cerebrospinal fluid beta-amyloid1-42 and tau in control subjects at risk for Alzheimer's disease: the effect of APOE epsilon4 allele (2004) Biol. Psychiatry, 56, pp. 670-676; Vemuri, P., Wiste, H.J., Weigand, S.D., Knopman, D.S., Shaw, L.M., Trojanowski, J.Q., Aisen, P.S., Jack, C.R., Effect of apolipoprotein E on biomarkers of amyloid load and neuronal pathology in Alzheimer disease (2010) Ann. Neurol., 67, pp. 308-316; Wang, L.S., Leung, Y.Y., Chang, S.K., Leight, S., Knapik-Czajka, M., Baek, Y., Shaw, L.M., Clark, C.M., Comparison of xMAP and ELISA assays for detecting cerebrospinal fluid biomarkers of Alzheimer's disease (2012) J. Alzheimers Dis., 31, pp. 439-445; Woodard, J.L., Axelrod, B.N., Wechsler memory Scale - revised (1987) Psychol. Assess., 7, pp. 445-449
PY - 2020
Y1 - 2020
N2 - Amyloid and tau pathological accumulation should be considered for Alzheimer's disease (AD) definition and before subjects' enrollment in disease-modifying trials. Although age, APOEε4, and sex influence cerebrospinal fluid (CSF) biomarker levels, none of these variables are considered by current normality/abnormality cutoffs. Using baseline CSF data from 2 independent cohorts (PharmaCOG/European Alzheimer's Disease Neuroimaging Initiative and Alzheimer's Disease Neuroimaging Initiative), we investigated the effect of age, APOEε4 status, and sex on CSF Aβ42/P-tau distribution and cutoff extraction by applying mixture models with covariates. The Aβ42/P-tau distribution revealed the presence of 3 subgroups (AD-like, intermediate, control-like) and 2 cutoffs. The identification of the intermediate subgroup and of the higher cutoff was APOEε4 dependent in both cohorts. APOE-specific classification (higher cutoff for APOEε4+, lower cutoff for APOEε4-) showed higher diagnostic accuracy in identifying MCI due to AD compared to single Aβ42 and Aβ42/P-tau cutoffs. APOEε4 influences amyloid and tau CSF markers and AD progression in MCI patients supporting i) the use of APOE-specific cutoffs to identify MCI due to AD and ii) the utility of considering APOE genotype for early AD diagnosis. © 2020 Elsevier Inc.
AB - Amyloid and tau pathological accumulation should be considered for Alzheimer's disease (AD) definition and before subjects' enrollment in disease-modifying trials. Although age, APOEε4, and sex influence cerebrospinal fluid (CSF) biomarker levels, none of these variables are considered by current normality/abnormality cutoffs. Using baseline CSF data from 2 independent cohorts (PharmaCOG/European Alzheimer's Disease Neuroimaging Initiative and Alzheimer's Disease Neuroimaging Initiative), we investigated the effect of age, APOEε4 status, and sex on CSF Aβ42/P-tau distribution and cutoff extraction by applying mixture models with covariates. The Aβ42/P-tau distribution revealed the presence of 3 subgroups (AD-like, intermediate, control-like) and 2 cutoffs. The identification of the intermediate subgroup and of the higher cutoff was APOEε4 dependent in both cohorts. APOE-specific classification (higher cutoff for APOEε4+, lower cutoff for APOEε4-) showed higher diagnostic accuracy in identifying MCI due to AD compared to single Aβ42 and Aβ42/P-tau cutoffs. APOEε4 influences amyloid and tau CSF markers and AD progression in MCI patients supporting i) the use of APOE-specific cutoffs to identify MCI due to AD and ii) the utility of considering APOE genotype for early AD diagnosis. © 2020 Elsevier Inc.
KW - Alzheimer's disease
KW - Apolipoprotein E
KW - CSF cutoff
KW - Disease progression
KW - Mild cognitive impairment
KW - amyloid beta protein[1-42]
KW - apolipoprotein E
KW - apolipoprotein E epsilon4
KW - tau protein
KW - unclassified drug
KW - amyloid beta protein
KW - amyloid beta-protein (1-42)
KW - biological marker
KW - peptide fragment
KW - age distribution
KW - aged
KW - Alzheimer disease
KW - Article
KW - brain atrophy
KW - cerebrospinal fluid
KW - cohort analysis
KW - controlled study
KW - diagnostic accuracy
KW - diagnostic test accuracy study
KW - early diagnosis
KW - female
KW - genotype
KW - heterozygote
KW - hippocampus
KW - human
KW - major clinical study
KW - male
KW - mild cognitive impairment
KW - neuroimaging
KW - priority journal
KW - protein cerebrospinal fluid level
KW - receiver operating characteristic
KW - sensitivity and specificity
KW - sex difference
KW - validity
KW - white matter lesion
KW - cognitive defect
KW - complication
KW - genetics
KW - very elderly
KW - Aged
KW - Aged, 80 and over
KW - Alzheimer Disease
KW - Amyloid beta-Peptides
KW - Apolipoproteins E
KW - Biomarkers
KW - Cognitive Dysfunction
KW - Cohort Studies
KW - Female
KW - Heterozygote
KW - Humans
KW - Male
KW - Peptide Fragments
KW - tau Proteins
U2 - 10.1016/j.neurobiolaging.2019.12.019
DO - 10.1016/j.neurobiolaging.2019.12.019
M3 - Article
VL - 89
SP - 55
EP - 62
JO - Neurobiol. Aging
JF - Neurobiol. Aging
SN - 0197-4580
ER -