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Alzheimer's disease associated with Down syndrome: a genetic form of dementia
Open accessAbstract
Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer's disease and are at very high risk of developing early-onset dementia, which is now the leading cause of death in this population. Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and imaging biomarkers have shown good diagnostic performances and a strikingly similar temporality of changes with respect to sporadic and autosomal dominant Alzheimer's disease. Most importantly, there are no treatments to prevent Alzheimer's disease, even though adults with Down syndrome could be an optimal population in whom to conduct Alzheimer's disease prevention trials. Unprecedented research activity in Down syndrome is rapidly changing this bleak scenario that will translate into disease-modifying therapies that could benefit other populations.
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“Studies suggest that the brain changes of Alzheimer's disease in people with Down syndrome are more common than these percentages indicate.92,93”
From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [93]
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“Emerging research suggests that Alzheimer's brain changes in people with Down syndrome may be even more common than these percentages indicate.”
From 2024 Alzheimer's disease facts and figures (2024) · cites this paper as [100]
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“increased risk for early‐onset Alzheimer's disease (AD). 2”
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“Although the extra copy of the amyloid precursor protein (APP) gene increases the penetrance of AD in DS, 2 , 6”
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“By age 40 years, most individuals with DS will have developed Alzheimer’s disease (AD) pathology, characterised by the accumulation of amyloid-β plaques and neurofibrillary tau tangles (NFT) within the brain [17, 69].”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [17]
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“This relationship is observed across the AD continuum, including the asymptomatic phase in sporadic and genetic forms of AD.11,12,13,14”
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Self-citationAnxiolytic effects of Formononetin in an inflammatory pain mouse model
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Promising outcome measures of early Alzheimer's dementia in adults with Down syndrome
Krinsky‐McHale, S. J., Zigman, W. B., Lee, J. H., Schupf, N., Pang, D. I., Listwan, T. A., Kovacs, C. M., & Silverman, W. P. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12044 · Cited by 61
Dissociation of Down syndrome and Alzheimer's disease effects with imaging
Matthews, D. C., Lukic, A. S., Andrews, R. D., Marendic, B., Brewer, J. B., Rissman, R. A., Mosconi, L., Strother, S. C., Wernick, M. N., Mobley, W. C., et al. (2016) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1016/j.trci.2016.02.004 · Cited by 59
Self-citationSystematic review of coexistent epileptic seizures and Alzheimer's disease: Incidence and prevalence
Xu, Y. H., Lavrencic, L. M., Radford, K. A., Booth, A., Yoshimura, S., Anstey, K. J., Anderson, C. S., & Peters, R. K. (2021) · Journal of the American Geriatrics Society · doi:10.1111/jgs.17101 · Cited by 58
Periodontal disease's contribution to Alzheimer's disease progression in Down syndrome
Kamer, A. R., Fortea, J., Videla, S., Mayoral, A., Janal, M. N., Carmona‐Iragui, M., Benejam, B., Craig, R. G., Saxena, D. B., Corby, P. M. A., et al. (2016) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2016.01.001 · Cited by 49
Self-citationPetersen, M. E., Rafii, M. S., Zhang, F., Hall, J. R., Julovich, D. A., Ances, B. M., Schupf, N., Krinsky‐McHale, S. J., Mapstone, M. E., Silverman, W. P., et al. (2020) · Journal of Alzheimer s Disease · doi:10.3233/jad-201167 · Cited by 49
Self-citationIntracerebral haemorrhage in Down syndrome: protected or predisposed?
Buss, L., Fisher, E., Hardy, J., Nižetić, D., Groet, J., Pulford, L. J., & Strydom, A. (2016) · F1000Research · doi:10.12688/f1000research.7819.1 · Cited by 48
Perez, S. E., Miguel, J. C., He, B., Malek‐Ahmadi, M. H., Abrahamson, E. E., Ikonomović, M. D., Lott, I. T., Doran, E. W., Alldred, M. J., Ginsberg, S. D., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01965-6 · Cited by 48
Colard, T., Falgayrac, G., Bertrand, B., Naji, S., Devos, O., Balsack, C., Delannoy, Y., & Penel, G. (2016) · PLoS ONE · doi:10.1371/journal.pone.0167316 · Cited by 46
Pharmacological interventions for cognitive decline in people with Down syndrome
Livingstone, N., Hanratty, J., McShane, R. H., & Macdonald, G. M. (2015) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd011546.pub2 · Cited by 44
Amyloid accumulation in Down syndrome measured with amyloid load
Zammit, M. D., Laymon, C. M., Betthauser, T. J., Cody, K. A., Tudorascu, D., Minhas, D. S., Sabbagh, M. N., Johnson, S. C., Zaman, S. H., Mathis, C. A., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12020 · Cited by 44
Self-citationCerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome
Dekker, A. D., Fortea, J., Blesa, R., & Deyn, P. P. D. (2017) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2017.02.006 · Cited by 42
Self-citationGangadharan, S. K., & Bhaumik, S. (2008) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2007.01033.x · Cited by 41
Sinai, A., Hassiotis, A., Rantell, K. R., & Strydom, A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0153917 · Cited by 41
Hartley, S. L., Handen, B. L., Devenny, D. A., Tudorascu, D., Piro‐Gambetti, B., Zammit, M. D., Laymon, C. M., Klunk, W. E., Zaman, S. H., Cohen, A. D., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12096 · Cited by 40
Self-citationPentz, R., Iulita, M. F., Ducatenzeiler, A., Videla, L., Benejam, B., Carmona‐Iragui, M., Blesa, R., Lleó, A., Fortea, J., & Cuello, A. C. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12229 · Cited by 40
Self-citationThe Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects
Edgin, J. O., Anand, P., Rosser, T. C., Pierpont, E. I., Figueroa, C., Hamilton, D., Huddleston, L. B., Mason, G. M., Spanò, G., Toole, L., et al. (2017) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-122.3.215 · Cited by 39
Belbin, O., Xiao, M.-F., Xu, D., Carmona-Iragui, M., Pegueroles, J., Benejam, B., Videla, L., Fernández, S., Barroeta, I., Nuñez-Llaves, R., et al. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00398-0 · Cited by 39
Self-citationIncrease in β-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome
Englund, H., Annerén, G., Gustafsson, J., Oxelgren, U. W., Wiltfang, J., Lannfelt, L., Blennow, K., & Höglund, K. (2007) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000109215 · Cited by 38
Association of sleep with cognition and beta amyloid accumulation in adults with Down syndrome
Cody, K. A., Piro‐Gambetti, B., Zammit, M. D., Christian, B. T., Handen, B. L., Klunk, W. E., Zaman, S. H., Johnson, S. C., Plante, D. T., & Hartley, S. L. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.04.018 · Cited by 38
Self-citationUltrastructural and dynamic studies of the endosomal compartment in Down syndrome
Botté, A., Lainé, J., Xicota, L., Heiligenstein, X., Fontaine, G., Kasri, A., Rivals, I., Goh, P. A., Faklaris, O., Cossec, J., et al. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00956-z · Cited by 35
The AT(N) framework for Alzheimer's disease in adults with Down syndrome
Rafii, M. S., Ances, B. M., Schupf, N., Krinsky‐McHale, S. J., Mapstone, M. E., Silverman, W. P., Lott, I. T., Klunk, W. E., Head, E., Christian, B. T., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12062 · Cited by 35
Self-citationHolland, A. J., & Ball, S. L. (2008) · Springer eBooks · doi:10.1007/978-1-84800-249-4_7 · Cited by 34
Cerebrospinal fluid biomarkers of Alzheimer's disease in a cohort of adults with Down syndrome
Henson, R. L., Doran, E. W., Christian, B. T., Handen, B. L., Klunk, W. E., Lai, F., Lee, J. H., Rosas, H. D., Schupf, N., Zaman, S. H., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12057 · Cited by 34
Self-citationTudorascu, D., Laymon, C. M., Zammit, M. D., Minhas, D. S., Anderson, S., Ellison, P. A., Zaman, S. H., Ances, B. M., Sabbagh, M. N., Johnson, S., et al. (2020) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1002/trc2.12096 · Cited by 30
Self-citationHithersay, R., Baksh, R. A., Startin, C. M., Wijeratne, P. A., Hamburg, S., Carter, B., & Strydom, A. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12222 · Cited by 27
Gholipour, T., Mitchell, S. B., Sarkis, R. A., & Chemali, Z. N. (2017) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2016.12.014 · Cited by 25
Pharmacological interventions for cognitive decline in people with Down syndrome
Livingstone, N., Hanratty, J., Macdonald, G., & McShane, R. (2015) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd011546 · Cited by 24
Language skills as a predictor of cognitive decline in adults with Down syndrome
Pulsifer, M. B., Evans, C. L., Hom, C. L., Krinsky‐McHale, S. J., Silverman, W. P., Lai, F., Lott, I. T., Schupf, N., Wen, J., & Rosas, H. D. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12080 · Cited by 23
Tau Positron Emission Tomography in Autosomal Dominant Alzheimer Disease
McDade, E., & Bateman, R. J. (2018) · JAMA Neurology · doi:10.1001/jamaneurol.2017.4026 · Cited by 22
Comparison of longitudinal Aβ in nondemented elderly and Down syndrome
Tudorascu, D., Anderson, S., Minhas, D. S., Yu, Z., COMER, D. M., Lao, P. J., Hartley, S. L., Laymon, C. M., Snitz, B. E., Lopresti, B. J., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.09.030 · Cited by 22
Self-citationPetersen, M. E., Zhang, F., Schupf, N., Krinsky‐McHale, S. J., Hall, J. R., Mapstone, M. E., Cheema, A. K., Silverman, W. P., Lott, I. T., Rafii, M. S., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12039 · Cited by 22
Self-citationMak, E., Bickerton, A., Padilla, C., Walpert, M., Annus, T., Wilson, L. R., Hong, Y. T., Fryer, T. D., Coles, J., Aigbirhio, F. I., et al. (2019) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2019.04.006 · Cited by 21
Self-citationClinical and EEG Features of Seizures in Adults With Down Syndrome
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IC‐01‐01: Predictors of Regional TAU‐PET Uptake: Mayo Clinic Study of Aging
Vemuri, P., Lowe, V. J., Wiste, H. J., Weigand, S. D., Senjem, M. L., Knopman, D. S., Petersen, R. C., & Jack, C. R. (2016) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2016.06.061 · Cited by 19
Lao, P. J., Brickman, A. M., & Initiative, A. D. N. (2018) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2018.08.007 · Cited by 18
Metabolite Signature of Alzheimer's Disease in Adults with Down Syndrome
Montal, V., Barroeta, I., Bejanin, A., Pegueroles, J., Carmona‐Iragui, M., Altuna, M., Benejam, B., Videla, L., Fernández, S., Padilla, C., et al. (2021) · Annals of Neurology · doi:10.1002/ana.26178 · Cited by 18
Self-citationRosas, H. D., Hsu, E., Mercaldo, N. D., Lai, F., Pulsifer, M. B., Keator, D. B., Brickman, A. M., Price, J. C., Yassa, M. A., Hom, C. L., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12040 · Cited by 17
Petersen, M. E., Zhang, F., Krinsky‐McHale, S. J., Silverman, W. P., Lee, J. H., Pang, D. I., Hall, J. R., Schupf, N., & O’Bryant, S. E. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12023 · Cited by 15
Diogenes syndrome in dementia: a case report
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Self-citationPattern of Increased Cerebral FDG Uptake in Down Syndrome Patients
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Epilepsy in children with Down syndrome: not so benign as generally accepted
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Prognostic Accuracy of Fetal MRI in Predicting Postnatal Neurodevelopmental Outcome
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Research works printed but not linked: 1
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Self-citation
Metadata
- Authors
- Fortea, J., Zaman, S. H., Hartley, S., Rafii, M. S., Head, E., & Carmona-Iragui, M.
- Affiliations
- Universitat Autònoma de Barcelona (ES)
- University of Cambridge (GB)
- University of Wisconsin–Madison (US)
- University of Southern California (US)
- University of California, Irvine (US)
- Corresponding author
- Fortea, Juan
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2021-11
- Volume
- 20
- Issue
- 11
- Pages
- 930-942
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC9387748
- OpenAlex
- W3205749467
- Cited by
- 357
- References
- 125
- Citations by year
- 2026: 66 · 2025: 121 · 2024: 83 · 2023: 48 · 2022: 36 · 2021: 3
- FWCI
- 7.88
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Generalitat de Catalunya
- Instituto de Salud Carlos III
- National Institutes of Health
- Roche España (BFF17-008, P30AG066519, PI18/00335, R01HD064993, U19AG068054)
- European Commission
- Fondation Jérôme Lejeune (1913, 2019B)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01AG031110, U01 AG051412, U01AG051406, U54 HD090256)
- Global Brain Health Institute (GBHI_ALZ-18-543740)
- European Regional Development Fund
- National Institute on Aging (1R01AG056850 - 01A1, R01AG061566, R21AG056974)
- Generalitat of Catalonia Department of Health (SLT006/17/00119)
- Fundació Víctor Grífols i Lucas
- Alzheimer's Association
- Societat Catalana de Pneumologia
- Fundació la Marató de TV3 (20141210)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- Down syndrome, Alzheimer's disease, early-onset dementia, dementia diagnosis, fluid biomarkers, neuroimaging biomarkers, intellectual disability, Alzheimer's disease prevention, disease-modifying therapy
- MeSH terms
- Adult, Alzheimer Disease, Down Syndrome, Humans, Intellectual Disability, Biomarkers
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