The DOI matches its Crossref record; 124 of the 125 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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]
The cited source says what the claim attributes to it.
In the citing paper
“increased risk for early‐onset Alzheimer's disease (AD). 2”
The cited source says what the claim attributes to it.
In the citing paper
“Although the extra copy of the amyloid precursor protein (APP) gene increases the penetrance of AD in DS, 2 , 6”
The cited source says what the claim attributes to it.
In the citing paper
“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]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“This relationship is observed across the AD continuum, including the asymptomatic phase in sporadic and genetic forms of AD.11,12,13,14”
From Diagnostic Accuracy of a Plasma Phosphorylated Tau 217 Immunoassay for Alzheimer Disease Pathology (2024) · cites this paper as [14]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
NIA‐AA Research Framework: Toward a biological definition of Alzheimer's disease
Jack, C. R., Bennett, D. A., Blennow, K., Carrillo, M. C., Dunn, B., Haeberlein, S. B., Holtzman, D. M., Jagust, W., Jessen, F., Karlawish, J., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.02.018 · Cited by 10,537
Scheltens, P., De Strooper, B., Kivipelto, M., Holstege, H., Chételat, G., Teunissen, C. E., Cummings, J., & van der Flier, W. M. (2021) · The Lancet · doi:10.1016/s0140-6736(20)32205-4 · Cited by 5,465
Clinical and biomarker changes in dominantly inherited Alzheimer's disease
Bateman, R. J., Xiong, C., Benzinger, T. L. S., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1202753 · Cited by 3,814
Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria
Dubois, B., Feldman, H. H., Jacova, C., Hampel, H., Molinuevo, J. L., Blennow, K., DeKosky, S. T., Gauthier, S., Selkoe, D., Bateman, R., et al. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70090-0 · Cited by 3,321
Olsson, B., Lautner, R., Andreasson, U., Öhrfelt, A., Portelius, E., Bjerke, M., Hölttä, M., Rosén, C., Olsson, C., Strobel, G., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00070-3 · Cited by 2,049
Cataldo, A. M., Peterhoff, C. M., Troncoso, J. C., Gomez-Isla, T., Hyman, B. T., & Nixon, R. A. (2000) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)64538-5 · Cited by 776
Lemere, C. A., Blusztajn, J. K., Yamaguchi, H., Wisniewski, T., Saido, T. C., & Selkoe, D. J. (1996) · Neurobiology of Disease · doi:10.1006/nbdi.1996.0003 · Cited by 584
Lee, S., Viqar, F., Zimmerman, M. E., Narkhede, A., Tosto, G., Benzinger, T. L. S., Marcus, D. S., Fagan, A. M., Goate, A., Fox, N. C., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24647 · Cited by 542
Cognitive deficits and associated neurological complications in individuals with Down's syndrome
Lott, I. T., & Dierssen, M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70112-5 · Cited by 484
Busciglio, J., Pelsman, A., Wong, C., Pigino, G., Yuan, M., Mori, H., & Yankner, B. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00604-9 · Cited by 387
Research works printed but not linked: 1
- Blesa, 2015, Alzheimer's disease in adults with Down syndrome: a challenge, T21 Res Sci Soc Bull, 2, 4
Cited by
Sorted by citations
Items 101–200 of 365
Weight Loss and Alzheimer’s Disease in Down Syndrome
Fleming, V., Helsel, B. C., Ptomey, L. T., Rosas, H. D., Handen, B. L., Laymon, C. M., Christian, B. T., Head, E., Mapstone, M. E., Lai, F., et al. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-220865 · Cited by 12
Self-citationJack, C. R., Graf, A., Burnham, S. C., Doty, E. G., Moebius, H. J., Montenigro, P. H., Siemers, E., Sink, K. M., Shaw, L. M. J., Hansen, C. T., et al. (2024) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1002/trc2.70013 · Cited by 15
Ivain, P., Baksh, R. A., Saini, F., Idris, M., Tamayo‐Elizalde, M., Wells, J., Benejam, B., Loosli, S. V., Sandkühler, K., Wlasich, E., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70071 · Cited by 12
Self-citationThe history of Down syndrome–associated Alzheimer's disease; past, present, and future
Maure‐Blesa, L., Carmona‐Iragui, M., Lott, I. T., Head, E., Wısnıewskı, T., Rafii, M. S., Espinosa, J. M., Flórez, J., Mobley, W. C., Holland, A. J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70158 · Cited by 12
Self-citationSugimoto, J., Schust, D. J., Yamazaki, T., & Kudo, Y. (2022) · Scientific Reports · doi:10.1038/s41598-022-14104-1 · Cited by 12
Shimizu, E., Goto‐Hirano, K., Motoi, Y., Arai, M., & Hattori, N. (2024) · Neurological Sciences · doi:10.1007/s10072-023-07292-9 · Cited by 11
Cortical microinfarcts in adults with Down syndrome assessed with 3T‐MRI
Aranha, M. R., Montal, V., van den Brink, H., Pegueroles, J., Carmona‐Iragui, M., Videla, L., Maure‐Blesa, L., Benejam, B., Arranz, J., Valldeneu, S., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.13797 · Cited by 10
Self-citationTau biomarkers for neurodegenerative diseases: Current state and perspectives
Vacchi, E., Ruíz‐Barrio, I., & Melli, G. (2025) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2025.107772 · Cited by 11
Yang, X., Yao, K., Zhang, M., Zhang, W., & Zu, H. (2025) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2025.111321 · Cited by 12
Physical activity, memory function, and hippocampal volume in adults with Down syndrome
Peven, J. C., Handen, B. L., Laymon, C. M., Fleming, V., Piro‐Gambetti, B., Christian, B., Klunk, W. E., Cohen, A. D., Okonkwo, O. C., & Hartley, S. L. (2022) · Frontiers in Integrative Neuroscience · doi:10.3389/fnint.2022.919711 · Cited by 12
Self-citationHu, K., & He, Q. (2022) · Environmental Research · doi:10.1016/j.envres.2022.114261 · Cited by 10
Brain aging and Alzheimer’s disease, a perspective from non-human primates
Ferrer, I. (2024) · Aging · doi:10.18632/aging.206143 · Cited by 10
Medial temporal lobe atrophy in Down syndrome along the Alzheimer’s disease continuum
Buehner, B. J., Morcillo-Nieto, A. O., Zsadanyi, S. E., Aranha, M. R., Arriola‐Infante, J. E., Vaqué‐Alcázar, L., Arranz, J., Rodríguez‐Baz, Í., Maure‐Blesa, L., Videla, L., et al. (2025) · Brain · doi:10.1093/brain/awaf133 · Cited by 12
Self-citationLessons from Down syndrome and autosomal dominant Alzheimer's disease
Fortea, J., Quiroz, Y. T., & Ryan, N. S. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(22)00437-9 · Cited by 10
Self-citationInvestigation of sex differences in mutation carriers of the Dominantly Inherited Alzheimer Network
Wagemann, O., Li, Y., Hassenstab, J. J., Aschenbrenner, A. J., McKay, N. S., Gordon, B. A., Benzinger, T. L. S., Xiong, C., Cruchaga, C., Renton, A. E., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13460 · Cited by 9
Farrell, C., Buhidma, Y., Mumford, P., Heywood, W. E., Hällqvist, J., Flores-Aguilar, L., Andrews, E. J., Rahimzadah, N., Taso, O. S., Doran, E., et al. (2025) · Acta Neuropathologica · doi:10.1007/s00401-025-02889-0 · Cited by 9
“within the brain [17, 69].”
Self-citationPomeshchik, Y., Velásquez, E., Gil, J., Klementieva, O. L., Gidlöf, R., Sydoff, M., Bagnoli, S., Nacmias, B., Sorbi, S., Westergren‐Thorsson, G., et al. (2023) · Acta Neuropathologica Communications · doi:10.1186/s40478-023-01649-z · Cited by 10
Teipel, S. J., Akmatov, M. K., Michalowsky, B., Riedel-Heller, S. G., Bohlken, J., & Holstiege, J. (2025) · Alzheimer s Research & Therapy · doi:10.1186/s13195-024-01662-x · Cited by 10
Russell, J. K., Conley, A. C., Boyd, B. D., Begnoche, J. P., Schlossberg, R., Stranick, A., Rosenberg, A. J., Acosta, L. M. Y., Martin, D., Neal, Y., et al. (2025) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2025.01.008 · Cited by 10
Self-citationWagemann, O., Nübling, G., Martínez-Murcia, F. J., Wlasich, E., Loosli, S. V., Sandkühler, K., Stockbauer, A., Prix, C., Katzdobler, S., Petrera, A., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70040 · Cited by 9
Self-citationRisk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
Qu, H., Liu, Y., Connolly, J. J., Mentch, F. D., Kao, C., & Hakonarson, H. H. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.14604 · Cited by 9
Zhou, Y., Sheehan, R., Guo, L., & Strydom, A. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70135 · Cited by 10
Watfern, C., & Carnemolla, P. (2025) · British Journal of Learning Disabilities · doi:10.1111/bld.12632 · Cited by 8
Islam, R., Jackson, B., Naomi, M. T., Schatz, B., Tan, N., Murdock, M. H., Park, D. S., Rodrígues-Amorím, D., Jiang, X., Pineda, S. S., et al. (2025) · PLoS ONE · doi:10.1371/journal.pone.0317428 · Cited by 8
Alpha‐synuclein co‐pathology in Down syndrome‐associated Alzheimer's disease
Bernhardt, A. M., Rodríguez‐Baz, Í., Aldecoa, I., Arranz, J., Arriola‐Infante, J. E., Maure‐Blesa, L., Carmona‐Iragui, M., Longen, S., Trossbach, S. V., Giese, A., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70342 · Cited by 7
Self-citationSingle‐nucleus analysis reveals oxidative stress in Down syndrome basal forebrain neurons at birth
West, N. R., Arachchilage, K. H., Knaack, S., MacGregor, S., Hosseini, M., Risgaard, R. D., Kumarage, P., Martinez, J. L., Zhang, S., Wang, D., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70445 · Cited by 8
Stringer, C. A., Miyasato, H., Camey, K., Ghadia, K. A., Andrews, E. J., Ngo, P. T., Pascual, J. R., Wright, S. T., Silva, J. A., Gawronski, B., et al. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107114 · Cited by 8
Self-citationPlasma p-tau217 as a biomarker of Alzheimer’s disease pathology in individuals with Down syndrome
Huber, H., Arranz, J., Arslan, B., Leuzy, A., Kittel, O., Molfetta, G. D., Benejam, B., Videla, L., Barroeta, I., Soriano, L. D. H., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-65882-x · Cited by 17
Self-citationRoh, H. W., Chang, Y. Y., Kim, K. Y., Jeon, S. Y., Wang, S., Kim, E., Bae, J. N., & Ryu, S. (2026) · Psychiatry Investigation · doi:10.30773/pi.2025.0400 · Cited by 8
Giménez, S., Farré, A., Morente, F., Videla, L., Gutiérrez, M., Clos, S., Fernández, A., Blanco, M., Altuna, M., Pegueroles, J., et al. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.838412 · Cited by 8
Self-citationCaregivers' perception of adults with Down syndrome willingness to participate in research
Kyprianou, N., Hendrix, J., Hillerstrom, H., Grimm, R., Kirova, A.-M., & Rubenstein, E. (2022) · Journal of Intellectual Disability Research · doi:10.1111/jir.12999 · Cited by 8
Victorino, D. B., Faber, J., Pinheiro, D. J. L. L., Scorza, F. A., de Almeida, A.-C. G., Costa, A. C. S., & Scorza, C. A. (2022) · Aging and Disease · doi:10.14336/ad.2022.0906 · Cited by 8
The association between cardiovascular health and cognition in adults with Down syndrome
Frank, L., Helsel, B. C., Dodd, D., Bodde, A. E., Danon, J. C., Sherman, J. R., Forsha, D. E., Szabo‐Reed, A. N., Washburn, R. A., Donnelly, J. E., et al. (2023) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-023-09510-z · Cited by 10
Development of treatments for Down syndrome
Rafii, M. S. (2021) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00411-7 · Cited by 8
Self-citationRubenstein, E., Tewolde, S., Skotko, B. G., Michals, A. L., & Fortea, J. (2024) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32097 · Cited by 7
Self-citationAlzheimer's disease: Current concept and a new hope with siRNA-liposomal system
Abla, K. K., & Zahwi, M. K. (2024) · Journal of Drug Delivery Science and Technology · doi:10.1016/j.jddst.2024.106409 · Cited by 7
Liou, J., Li, J., Berardinelli, J., Jin, H., Santini, T., Noh, J., Farhat, N., Wu, M., Aizenstein, H. J., Mettenburg, J., et al. (2025) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlaf010 · Cited by 7
Self-citationLedreux, A., Carmona‐Iragui, M., Videla, L., Benejam, B., Barroeta, I., Lleó, A., Alcolea, D. A., & Fortea, J. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70380 · Cited by 7
Self-citationFalgàs, N., Maure‐Blesa, L., Ances, B. M., Aguilar, L. F., Hartley, S. L., Hassenstab, J. J., Iulita, M. F., Janicki, M. P., Koenig, K. A., Lao, P. J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70309 · Cited by 7
Self-citationDavidi, A. F., Shirenova, S. D., Michaelovich, D., Benedetti, G., Shtrasberg, H., Shoval, I., Hauschner, H., Oz, G., Vardy, K., Hirsh, T., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2425081122 · Cited by 11
DYRK1A in the physiology and pathology of the neuron-astrocyte axis
Cisternas, P., Kim, J.-Y., Ashfeld, B. L., & Zartman, J. J. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1626062 · Cited by 7
Videla, L., Benejam, B., Carmona‐Iragui, M., Barroeta, I., Fernández, S., Arranz, J., Azzahchi, S. E., Altuna, M., Padilla, C., Valldeneu, S., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13073 · Cited by 8
Self-citationEEG in Down Syndrome—A Review and Insights into Potential Neural Mechanisms
Chmiel, J., Rybakowski, F., & Leszek, J. (2024) · Brain Sciences · doi:10.3390/brainsci14020136 · Cited by 8
Esbensen, A. J., Schworer, E. K., & Hartley, S. L. (2024) · Contemporary clinical neuroscience · doi:10.1007/978-3-031-66932-3_13 · Cited by 14
Self-citationDecoding brain structure to stage Alzheimer's disease pathology in Down syndrome
Kennedy, J. T., Wisch, J. K., Dincer, A., Roman, J., Gordon, B. A., Handen, B., Benzinger, T. L. S., Head, E., Mapstone, M., Christian, B. T., et al. (2025) · Alzheimer's & Dementia · doi:10.1002/alz.14519 · Cited by 7
Self-citationThe Hole-Board Test in Mutant Mice
Lalonde, R., & Strazielle, C. (2022) · Behavior Genetics · doi:10.1007/s10519-022-10102-1 · Cited by 7
The mTOR pathway: a common link between Alzheimer's disease and Down Syndrome
Wohlfert, A. J., Phares, J., & Granholm, A.-C. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13206183 · Cited by 6
Sleep spindles are reduced in children with Down syndrome and sleep-disordered breathing
Shetty, M., Davey, M. J., Nixon, G. M., Walter, L. M., & Horne, R. S. C. (2024) · Pediatric Research · doi:10.1038/s41390-023-02854-1 · Cited by 8
Calcineurin inhibition may prevent Alzheimer disease in people with Down syndrome
Dohl, J., Treadwell, Z., Norris, C. M., & Head, E. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70034 · Cited by 6
Self-citationMitochondrial Imbalance in Down Syndrome: A Driver of Accelerated Brain Aging?
Zuo, X. (2025) · Aging and Disease · doi:10.14336/ad.2025.0189 · Cited by 9
Impact of Alzheimer's disease on sleep in adults with Down syndrome
Giménez, S., Vaqué‐Alcázar, L., Zhu, N., Benejam, B., Arranz, J., Maure‐Blesa, L., Videla, L., Carmona‐Iragui, M., Barroeta, I., Rebillat, A., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70400 · Cited by 6
Self-citationCTAD taskforce: genetic therapies in Alzheimer’s disease
Jakabek, D., Isaacs, A. M., Strooper, B. D., Tuszynski, M. H., Lane, R. M., Uspenskaya, O., McDade, E., Rafii, M. S., & Mummery, C. J. (2025) · The Journal of Prevention of Alzheimer s Disease · doi:10.1016/j.tjpad.2025.100269 · Cited by 7
Self-citationda Costa, M. D. A., de Rezende, V. L., Bolan, S. J., Ebs, M. F. P., da Silva, G., Pellegrini, L. V., dos Santos, L. S., dos Santos, J. C. C., & Gonçalves, C. L. (2026) · Neurodegenerative Disease Management · doi:10.1080/17582024.2026.2623966 · Cited by 5
Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons
Blackburn, E., Birsa, N., Lopes, A. T., Fisher, E., Lazo, O. M., & Schiavo, G. (2026) · Cell Death and Disease · doi:10.1038/s41419-026-08464-z · Cited by 7
González-Molina, L. A., Dekker, A. D., Deyn, P. P. D., Dolga, A. M., & Rots, M. G. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-18516-8.00014-4 · Cited by 7
Acton, D., Jaydeokar, S., Taylor, R., & Jones, S. (2024) · Journal of Intellectual Disabilities · doi:10.1177/17446295241259076 · Cited by 7
Jenkins, M. R., Peven, J. C., Kubic, L., Handen, B. L., Krinsky‐McHale, S. J., Hom, C. L., Lee, A. E., Tudorascu, D., McLachlan, M., Zammit, M. D., et al. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09604-w · Cited by 6
Self-citationSoriano, L. D. H., Sandkühler, K., Videla, L., Benejam, B., Carmona‐Iragui, M., Wlasich, E., Kustermann, J., Barroeta, I., Vaqué‐Alcázar, L., Rodríguez‐Baz, Í., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70307 · Cited by 6
Self-citationCognitive outcome measures for tracking Alzheimer's disease in Down syndrome
Fleming, V., Hom, C. L., Clare, I. C. H., Hurd-Thomas, S. L., Krinsky‐McHale, S. J., Handen, B. L., & Hartley, S. L. (2022) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2022.05.006 · Cited by 8
Self-citationDoes Employment Complexity Promote Healthy Cognitive Aging in Down Syndrome?
Piro‐Gambetti, B., Schworer, E. K., Handen, B. L., Glukhovskaya, M., & Hartley, S. L. (2023) · Journal of Intellectual Disabilities · doi:10.1177/17446295231169379 · Cited by 8
Self-citationLong‐Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea
Shankar, S., Moroco, A. E., Elliott, Z. T., Boon, M. S., & Huntley, C. T. (2023) · Otolaryngology · doi:10.1002/ohn.566 · Cited by 6
Sleep-disordered breathing in children and adults with intellectual disability: mind the gap!
Riha, R. L., Singh, A., Hill, E. A., Evans, H. J., & O'Regan, D. J. (2024) · Thorax · doi:10.1136/thorax-2023-220032 · Cited by 6
Walendzik, A., Weitzel, M., Giebel, G. D., Raszke, P., Wasem, J., Levin, J., Wagemann, O., Wlasich, E., Nübling, G., Pantel, J., et al. (2025) · Das Gesundheitswesen · doi:10.1055/a-2486-6360 · Cited by 5
Echeverry, L. M., Llambrich, S., Heredia-Lidón, Á., Giménez, S., Aranha, M. R., Inampudi, P., Heuzé, Y., Sevillano, X., Fortea, J., Martínez‐Abadías, N., et al. (2025) · The FASEB Journal · doi:10.1096/fj.202403009r · Cited by 5
Self-citationDevelopment and validation of a novel Simoa assay for NPTX2 in Alzheimer's disease and Down syndrome
Sauer, M., Gomes, B. F., Shahrouki, P., Lantero‐Rodriguez, J., Montoliu‐Gaya, L., Camporesi, E., Belbin, O., Alcolea, D. A., Kumar, A., Sharma, M., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70241 · Cited by 7
Self-citationDevelopment of Alzheimer’s disease in Down syndrome
García, O. A., Domínguez-de-la-Cruz, E., Luna-Martínez, I. G., Garnett-Carbajal, J. A., & Villegas-Piña, J. A. (2025) · Exploration of neuroscience · doi:10.37349/en.2025.1006104 · Cited by 4
Hunter, S., Walsh, S., & Brayne, C. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03156-0 · Cited by 7
Stem cell-based therapeutic strategies for down syndrome and Alzheimer’s disease
Hamadelseed, O., & Skutella, T. (2025) · Stem Cell Research & Therapy · doi:10.1186/s13287-025-04556-3 · Cited by 5
Celebrating neuropathology's contributions to Alzheimer's Disease Research Centers
Fischer, D. L., Grinberg, L. T., Ahrendsen, J. T., Beach, T. G., Bieniek, K. F., Castellani, R. J., Chkheidze, R., Cobos, I., Cohen, M. L., Crary, J. F., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70734 · Cited by 6
Self-citationBeyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic
Harisinghani, A., Raffaele, G., Zawatsky, C. L. B., & Santoro, S. L. (2023) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32063 · Cited by 5
Reply to: Challenges to identifying risk versus protective factors in Alzheimer’s disease
Fortea, J., Vaqué‐Alcázar, L., Pegueroles, J., Alcolea, D. A., Belbin, O., Dols‐Icardo, O., Videla, L., Gispert, J. D., Suárez‐Calvet, M., Johnson, S. C., et al. (2024) · Nature Medicine · doi:10.1038/s41591-024-03159-4 · Cited by 5
Self-citationRussell, J. K., Conley, A. C., Boyd, B. D., Begnoche, J. P., Schlossberg, R., Stranick, A., Rosenberg, A. J., Acosta, L. M. Y., Martin, D., Neal, Y., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70134 · Cited by 4
Self-citationLifestyle Composite and Resilience to Alzheimer's Disease Pathology in Down Syndrome
Schworer, E. K., Zammit, M. D., Handen, B. L., Piro‐Gambetti, B., Jenkins, M. R., Brothers, C., Okonkwo, O. C., Hom, C. L., Ances, B. M., Christian, B., et al. (2025) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.70109 · Cited by 4
Self-citationTau pathology differs by sex in Alzheimer's disease in Down syndrome
Chen, X., Zuo, X., & Mobley, W. C. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70838 · Cited by 6
Ehret, F., Rogers, C. L., Fontanesi, J., Wilson, G. D., Chitti, B., Starner, J., Sidiqi, B. U., Goenka, A., Schulder, M., Bruynzeel, A. M. E., et al. (2025) · Seminars in Radiation Oncology · doi:10.1016/j.semradonc.2025.08.005 · Cited by 4
Equitable inclusion of people with disabilities in clinical trials: a scoping review
Jo, G., Castro, F., Cerilli, C., Varadaraj, V., Rosman, L. M., Kamenov, K., Barrett, D., & Swenor, B. K. (2026) · BMJ Open · doi:10.1136/bmjopen-2025-108550 · Cited by 4
Chung, P. A., Fleming, V., Reid, K. J., Plante, D. T., Hom, C. L., Ances, B. M., Handen, B. L., Christian, B. T., Head, E., Mapstone, M. E., et al. (2026) · Neurology · doi:10.1212/wnl.0000000000214938 · Cited by 4
Self-citationStrengthening health-care pathways for people with Down syndrome
Greenland, K., Nguweneza, A., Wilbur, J., Moyo, M., Hlyva, O., Tuffrey‐Wijne, I., Kuper, H., Corcoran, E., & Smythe, T. (2026) · The Lancet Healthy Longevity · doi:10.1016/j.lanhl.2026.100850 · Cited by 4
What Can We Learn About Alzheimer’s Disease from People with Down Syndrome?
Maure‐Blesa, L., Rodríguez‐Baz, Í., Carmona‐Iragui, M., & Fortea, J. (2024) · Current topics in behavioral neurosciences · doi:10.1007/7854_2024_546 · Cited by 5
Self-citationPosterior Cortical Atrophy Due to Alzheimer Disease in a Person With Down Syndrome
Rodríguez‐Baz, Í., Benejam, B., Morcillo-Nieto, A. O., Vaqué‐Alcázar, L., Arriola‐Infante, J. E., Camacho, V., Aranha, M. R., Carmona‐Iragui, M., Videla, L., Barroeta, I., et al. (2024) · Neurology · doi:10.1212/wnl.0000000000210179 · Cited by 4
Self-citationZhang, B., Zhang, D., Chen, K., & Wu, T. (2025) · APOPTOSIS · doi:10.1007/s10495-024-02073-x · Cited by 4
Down syndrome in Africa: Challenges, opportunities, and future directions
McGlinchey, E., Tewolde, S., He, A., Fortea, J., Mbakile‐Mahlanza, L., Tefera, A., Epenge, E., Hassenstab, J. J., Jäck, A., Ranchod, K., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70388 · Cited by 4
Self-citationAge and sex are associated with Alzheimer's disease neuropathology in Down syndrome
Andrews, E. J., Ngo, P. T., Pascual, J. R., Gonzalez, F., Phelan, M. J., Wright, S. T., Harp, J. P., Schmitt, F. A., Lai, F., Lao, P. J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70408 · Cited by 4
Self-citationCharacterization of neurodegenerative pathologies in adult and pediatric subjects with Down syndrome
Canan, F., Wick, N., Raisanen, J. M., Burns, D. K., Hatanpaa, K. J., Richardson, T. E., White, C. L., & Daoud, E. V. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251362762 · Cited by 4
Recent Advances and Future Directions in Alzheimer’s Disease Genetic Research
Stancheva, M., Toncheva, D. I., & Karachanak-Yankova, S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26167819 · Cited by 4
Zemach, M., Vakil, E., & Lifshitz, H. (2023) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.13096 · Cited by 4
Fursa, G. A., Andretsova, S. S., Shishkina, V. S., Voronova, A. D., Karsuntseva, E. K., Chadin, A. V., Reshetov, I. V., Stepanova, O. V., & Chekhonin, V. P. (2024) · Bulletin of Experimental Biology and Medicine · doi:10.1007/s10517-024-06218-5 · Cited by 5
Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome
Arriola‐Infante, J. E., Morcillo-Nieto, A. O., Zsadanyi, S. E., Franquesa‐Mullerat, M., Vaqué‐Alcázar, L., Aranha, M. R., Arranz, J., Rodríguez‐Baz, Í., Maure‐Blesa, L., Videla, L., et al. (2025) · Annals of Neurology · doi:10.1002/ana.27226 · Cited by 6
Self-citationKutasi, E., Chiş, A., Vințan, M. A., Alkhzouz, C., Văduva, D. A., Catana, A. M., & Vulturar, R. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05245-1 · Cited by 5
Athanasaki, A., Tsantzali, I., Theodorou, A., Michalopoulou, A., Constantinides, V. C., Boufidou, F., Tzartos, J. S., Tsalouchidou, P., Zompola, C., Paraskevas, S. G., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199531 · Cited by 3
Zeng, Z., Zhou, F., Zheng, Y., Shi, W., Hu, W., Wang, X., Ye, M., Zhou, J., Ye, P., Yuan, F., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-20187-3 · Cited by 3
Sleep Fragmentation in TcMAC21 Mouse Model of Down Syndrome
Tusk, J., Canas, M. A. S., Haydar, T. F., & Dean, T. (2025) · Nature and Science of Sleep · doi:10.2147/nss.s545188 · Cited by 3
Domenico, F. D., Greco, V., Tramutola, A., Rataj-Baniowska, M., Barone, E., Lanzillotta, C., Pieroni, L., Butterfield, D. A., Hérault, Y., Pagnotta, S. E., et al. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05432-0 · Cited by 5
Self-citationNiu, R., Xue, L., Tian, X., Huangfu, L., Chen, L., Zhai, C.-Y., Wang, S., Zhao, Y., Gan, Z., Qin, H.-Y., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-66109-9 · Cited by 3
West, N. R., Lindberg, M. F., Dairou, J., MacGregor, S., Puthireddy, S., Meijer, L., & Bhattacharyya, A. (2026) · Disease Models & Mechanisms · doi:10.1242/dmm.052740 · Cited by 3
Voxel‐based dysconnectomic brain morphometry with computed tomography in Down syndrome
Moreno, B. S., Zhang, L., Mateo, G., Moldenhauer, F., Brudfors, M., Ashburner, J., Nachev, P., de Asúa, D. R., & Strange, B. A. (2023) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51940 · Cited by 4
Huang, T., Lam, X.-J., Lim, C.-T., Jusoh, N., Fakurazi, S., Cheah, P.-S., & Ling, K. (2024) · Journal of Intellectual Disabilities · doi:10.1177/17446295241299160 · Cited by 3
The amyloid clock: mapping Alzheimer's disease in Down syndrome
Rafii, M. S. (2024) · The Lancet Neurology · doi:10.1016/s1474-4422(24)00437-x · Cited by 3
Self-citationNeurodevelopmental Abnormalities in Down Syndrome: Assessing Structural and Functional Deficits
Robinson, J., Chawla, N., Patel, S., Spey, E., McNulty, O., & Kaur, G. (2024) · Cureus · doi:10.7759/cureus.76156 · Cited by 5
Elevated Senescence Markers in Developing Trisomy 21 Human Lungs
Belgacemi, R., Cherry, C. L., Thompson, M., Ngassie, M. L. K., Rehan, A., El-Alam, I., Saux, C. J. L., Glass, I. A., Britt, R. D., Prakash, Y. S., et al. (2025) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2024-0361oc · Cited by 3
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
