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 the percentages indicated by the National Down Syndrome Society.
“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 measuredEmerging research suggests that Alzheimer's brain changes in people with Down syndrome may be even more common than the percentages indicated by the National Down Syndrome Society.
“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]
DS leads to increased risk for early-onset Alzheimer's disease.
“increased risk for early‐onset Alzheimer's disease (AD). 2”
The extra copy of the amyloid precursor protein (APP) gene increases the penetrance of AD in DS.
“Although the extra copy of the amyloid precursor protein (APP) gene increases the penetrance of AD in DS, 2 , 6”
By age 40 years, most individuals with DS will have developed Alzheimer's disease pathology, characterised by amyloid-β plaques and neurofibrillary tau tangles within the brain.
“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]
This relationship is observed across the AD continuum, including the asymptomatic phase in sporadic and genetic forms of AD.
“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]
The claim does not identify what “this relationship” refers to. The Natural history section describes biomarker changes beginning before dementia in Down syndrome and similarities to other forms of Alzheimer’s disease, but those passages cannot establish whether the unspecified relationship persists across the continuum, including the asymptomatic phase. (LLM, conf=0.67)
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Self-citationOxidative stress and cognitive ability in adults with Down syndrome
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Anxiolytic effects of Formononetin in an inflammatory pain mouse model
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Dissociation of Down syndrome and Alzheimer's disease effects with imaging
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Self-citationPromising outcome measures of early Alzheimer's dementia in adults with Down syndrome
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Systematic review of coexistent epileptic seizures and Alzheimer's disease: Incidence and prevalence
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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 · see citing works
Self-citationIntracerebral haemorrhage in Down syndrome: protected or predisposed?
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Pharmacological interventions for cognitive decline in people with Down syndrome
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Periodontal disease's contribution to Alzheimer's disease progression in Down syndrome
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Self-citationAmyloid accumulation in Down syndrome measured with amyloid load
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Cerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome
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Self-citationThe Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects
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Self-citationIncrease in β-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome
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Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome
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Association of sleep with cognition and beta amyloid accumulation in adults with Down syndrome
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Self-citationCerebrospinal fluid biomarkers of Alzheimer's disease in a cohort of adults with Down syndrome
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The AT(N) framework for Alzheimer's disease in adults with Down syndrome
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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 · see citing works
Self-citationGholipour, T., Mitchell, S. B., Sarkis, R. A., & Chemali, Z. N. (2017) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2016.12.014 · Cited by 25 · see citing works
Hithersay, 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 25 · see citing works
Pharmacological interventions for cognitive decline in people with Down syndrome
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Self-citationLanguage 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 · see citing works
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 · see citing works
Comparison of longitudinal Aβ in nondemented elderly and Down syndrome
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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 20 · see citing works
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
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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 · see citing works
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 · see citing works
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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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2023 Alzheimer's disease facts and figures
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Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup
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Self-citation2024 Alzheimer's disease facts and figures
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2022 Alzheimer's disease facts and figures
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Diagnostic Accuracy of a Plasma Phosphorylated Tau 217 Immunoassay for Alzheimer Disease Pathology
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Self-citationAlzheimer Disease as a Clinical-Biological Construct—An International Working Group Recommendation
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APOE4 homozygosity represents a distinct genetic form of Alzheimer’s disease
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Self-citationDissecting the clinical heterogeneity of early-onset Alzheimer’s disease
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Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity
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Self-citationPeripheral and central neuroimmune mechanisms in Alzheimer’s disease pathogenesis
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Vulnerability of the Hippocampus to Insults: Links to Blood–Brain Barrier Dysfunction
Davidson, T. L., & Stevenson, R. J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25041991 · Cited by 77 · see citing works
Building disability-inclusive health systems
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Self-citationGlymphatic system dysfunction in neurodegenerative diseases
Beschörner, N., & Nedergaard, M. (2024) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001252 · Cited by 60 · see citing works
Foret, M. K., Orciani, C., Welikovitch, L. A., Huang, C., Cuello, A. C., & Carmo, S. D. (2024) · Communications Biology · doi:10.1038/s42003-024-06552-4 · Cited by 62 · see citing works
Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers
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Self-citationMontoliu-Gaya, L., Alcolea, D., Ashton, N., Pegueroles, J., Levin, J., Bosch, B., Lantero-Rodríguez, J., Carmona-Iragui, M., Wagemann, O., Balasa, M., et al. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104547 · Cited by 48 · see citing works
Self-citationBoerwinkle, A. H., Gordon, B. A., Wisch, J., Flores, S., Henson, R. L., Butt, O. H., McKay, N., Chen, C. D., Benzinger, T. L. S., Fagan, A. M., et al. (2023) · The Lancet Neurology · doi:10.1016/s1474-4422(22)00408-2 · Cited by 55 · see citing works
Self-citationCryo-EM structures of amyloid-β and tau filaments in Down syndrome
Fernández, A., Hoq, M. R., Hallinan, G. I., Li, D., Bharath, S. R., Vago, F. S., Zhang, X., Ozcan, K. A., Newell, K. L., Garringer, H. J., et al. (2024) · Nature Structural & Molecular Biology · doi:10.1038/s41594-024-01252-3 · Cited by 50 · see citing works
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Self-citationLongitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome
Videla, L., Benejam, B., Pegueroles, J., Carmona‐Iragui, M., Padilla, C., Fernández, S., Barroeta, I., Altuna, M., Valldeneu, S., Garzón, D., et al. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.25573 · Cited by 48 · see citing works
Self-citationLangerscheidt, F., Wied, T., Kabbani, M. A. A., van Eimeren, T., Wunderlich, G., & Zempel, H. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12314-3 · Cited by 45 · see citing works
Down Syndrome in a New Era for Alzheimer Disease
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Self-citationAlzheimer's disease neuropathology and its estimation with fluid and imaging biomarkers
Thal, D. R., Poesen, K., Vandenberghe, R. R., & Meyer, S. D. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00819-y · Cited by 47 · see citing works
Alzheimer Dementia Among Individuals With Down Syndrome
Rubenstein, E., Tewolde, S., Michals, A. L., Weuve, J., Fortea, J., Fox, M. P., Jimenez, M. P., Scott, A., Tripodis, Y., & Skotko, B. G. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2024.35018 · Cited by 39 · see citing works
Self-citationDown syndrome and Alzheimer's disease: insights into biomarkers, clinical symptoms, and pathology
Rafii, M. S., Schlachetzki, Z., Barroeta, I., Head, E., Fortea, J., & Ances, B. M. (2025) · The Lancet Neurology · doi:10.1016/s1474-4422(25)00237-6 · Cited by 44 · see citing works
Self-citationBadhwar, A., Hirschberg, Y., Valle‐Tamayo, N., Iulita, M. F., Udeh‐Momoh, C. T., Matton, A., Tarawneh, R. M., Rissman, R. A., Ledreux, A., Winston, C. N., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.13823 · Cited by 34 · see citing works
The Role of Genetic, Environmental, and Dietary Factors in Alzheimer’s Disease: A Narrative Review
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Self-citationAPP dyshomeostasis in the pathogenesis of Alzheimer’s disease: implications for current drug targets
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Integration of iPSC-Derived Microglia into Brain Organoids for Neurological Research
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Cerebrovascular disease emerges with age and Alzheimer’s disease in adults with Down syndrome
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Lecanemab and Vascular-Amyloid Deposition in Brains of People With Down Syndrome
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Alzheimer’s Disease: Models and Molecular Mechanisms Informing Disease and Treatments
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Self-citationNeural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease
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Rodent Modeling of Alzheimer's Disease in Down Syndrome: In vivo and ex vivo Approaches
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Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21
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State-of-the-art therapy for down syndrome
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Serum Beta‐Synuclein Is Higher in Down Syndrome and Precedes Rise of pTau181
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Exploring the role of sex differences in Alzheimer's disease pathogenesis in Down syndrome
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Self-citationMedicaid Enrollment and Service Use Among Adults With Down Syndrome
Rubenstein, E., Michals, A. L., Wang, N., Scott, A., Tewolde, S., Levine, A. A., Tripodis, Y., & Skotko, B. G. (2023) · JAMA Health Forum · doi:10.1001/jamahealthforum.2023.2320 · Cited by 20 · see citing works
Characterization of white matter hyperintensities in Down syndrome
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Self-citationPlasma p‐tau212 as a biomarker of sporadic and Down syndrome Alzheimer's disease
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Down syndrome biobank consortium: a perspective
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Self-citationThe Role of Tau Pathology in Alzheimer’s Disease and Down Syndrome
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APOE4 homozygosity is a new genetic form of Alzheimer’s disease
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Wang, X., Yang, Q., Zhou, X., Keene, C. D., Ryazanov, A. G., & Ma, T. (2024) · Alzheimer's & Dementia · doi:10.1002/alz.13916 · Cited by 17 · see citing works
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Research attitudes in families of individuals with Down syndrome: importance for clinical trials
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Adapting prescribing criteria for amyloid‐targeted antibodies for adults with Down syndrome
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Self-citationBehavioral and Psychiatric Disorders in Syndromic Autism
Genovese, A., & Butler, M. G. (2024) · Brain Sciences · doi:10.3390/brainsci14040343 · Cited by 19 · see citing works
The role of interferon signaling in neurodegeneration and neuropsychiatric disorders
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Self-citationGlucocorticoids, synaptic plasticity and Alzheimer’s disease
Klyubin, I., Ondrejcak, T., Hu, N.-W., & Rowan, M. J. (2022) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2022.100365 · Cited by 16 · see citing works
Timing of Alzheimer’s Disease by Intellectual Disability Level in Down Syndrome
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Obesity, diabetes and their metabolic correlates in middle‐aged adults with Down syndrome
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Trisomy silencing by XIST: translational prospects and challenges
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Sex and gender differences in dementia
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REST Targets JAK–STAT and HIF-1 Signaling Pathways in Human Down Syndrome Brain and Neural Cells
Huang, T., Fakurazi, S., Cheah, P.-S., & Ling, K. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24129980 · Cited by 15 · see citing works
Ichimata, S., Martínez-Valbuena, I., Lee, S., Li, J., Karakani, A. M., & Kovács, G. G. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241411596 · Cited by 15 · see citing works
Addressing challenges in health care and research for people with Down syndrome
Fortea, J., McGlinchey, E., Espinosa, J. M., & Rafii, M. S. (2024) · The Lancet · doi:10.1016/s0140-6736(24)00478-1 · Cited by 15 · see citing works
Self-citationMartá-Ariza, M., Leitner, D. F., Kanshin, E., Suazo, J., Giusti Pedrosa, A., Thierry, M., Lee, E. B., Devinsky, O., Drummond, E., Fortea, J., et al. (2025) · Acta Neuropathologica · doi:10.1007/s00401-025-02844-z · Cited by 15 · see citing works
Self-citationLiou, J., Lou, J. J., Aguilar, L. F., Nakagiri, J., Yong, W. H., Hom, C. L., Doran, E. W., Totoiu, M. O., Lott, I. T., Mapstone, M. E., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.14479 · Cited by 16 · see citing works
Self-citationResistance and resilience to Alzheimer's disease in Down syndrome
Boyle, R. T., Koops, E. A., Ances, B. M., Andrews, E. J., Arenaza‐Urquijo, E. M., Bejanin, A., Brickman, A. M., Buckley, R. F., Clas, G. S., Costello, E., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70151 · Cited by 15 · see citing works
Self-citationBoerwinkle, A. H., Wisch, J. K., Handen, B. L., Head, E., Mapstone, M., Rafii, M. S., O'Bryant, S. E., Krinsky‐McHale, S. J., Lai, F., Rosas, H. D., et al. (2025) · Alzheimer's & Dementia · doi:10.1002/alz.14359 · Cited by 14 · see citing works
Self-citationMontoliu‐Gaya, L., Bian, S., Dammer, E. B., Alcolea, D. A., Sauer, M., Martá-Ariza, M., Ashton, N. J., Belbin, O., Fuchs, J., Watson, C. M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61054-z · Cited by 14 · see citing works
Self-citationLisgaras, C. P., Giménez, S., Carmona‐Iragui, M., Maure‐Blesa, L., Blessing, E., Fortea, J., & Osorio, R. S. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70386 · Cited by 14 · see citing works
Self-citationCortical atrophy and amyloid and tau deposition in Down syndrome: A longitudinal study
Padilla, C., Montal, V., Walpert, M., Hong, Y. T., Fryer, T. D., Coles, J., Aigbirhio, F. I., Hartley, S. L., Cohen, A. D., Tudorascu, D., et al. (2022) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12288 · Cited by 14 · see citing works
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The unique neuropathological vulnerability of the human brain to aging
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Alrayes, N. M., Issa, N. M., Alghubayshi, O. Y., Al‐Amaa, J. Y., Alsabban, A. H., Alshaer, D. S., Alyoubi, R. A., Nasser, K. K., & Alkhiary, Y. M. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2337 · Cited by 13 · see citing works
Carmona‐Iragui, M., O’Connor, A., Llibre‐Guerra, J. J., Lao, P. J., Ashton, N. J., Fortea, J., & Sánchez‐Valle, R. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.105327 · Cited by 13 · see citing works
Self-citationSex-related differences in genetically determined Alzheimer’s disease
Soriano, L. D. H., Wagemann, O., Bejanin, A., Levin, J., & Fortea, J. (2025) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2025.1522434 · Cited by 13 · see citing works
Self-citation
- 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
- Health Sciences › Medicine › Physiology › 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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