Cerebrovascular pathology in Down syndrome and Alzheimer disease

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Vascular pathology in the aged human brain

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Warfarin-associated hemorrhage and cerebral amyloid angiopathy

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Microvasculature changes and cerebral amyloid angiopathy in Alzheimer’s disease and their potential impact on therapy

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Down syndrome and Alzheimer's disease: common pathways, common goals

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Aging in Down Syndrome and the Development of Alzheimer's Disease Neuropathology

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Dementia in Down's syndrome

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Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP

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Sporadic cerebral amyloid angiopathy: pathology, clinical implications, and possible pathomechanisms

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Circle of Willis atherosclerosis: association with Alzheimer’s disease, neuritic plaques and neurofibrillary tangles

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Down's syndrome: an atheroma-free model?

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White Matter Hyperintensities and Cerebral Amyloidosis: Necessary and Sufficient for Clinical Expression of Alzheimer Disease?

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Genetic and host factors for dementia in Down's syndrome

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Prevalence of dementia in intellectual disability using different diagnostic criteria

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Development, appraisal, validation and implementation of a consensus protocol for the assessment of cerebral amyloid angiopathy in post-mortem brain tissue

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Pyroglutamate-3 Amyloid-β Deposition in the Brains of Humans, Non-Human Primates, Canines, and Alzheimer Disease–Like Transgenic Mouse Models

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Vascular Cognitive Impairment: Disease Mechanisms and Therapeutic Implications

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The Early Presentation of Dementia in People with Down Syndrome: a Systematic Review of Longitudinal Studies

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Contribution of vascular pathology to the clinical expression of dementia

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Down's syndrome and atherosclerosis

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Outcomes after diagnosis of mild cognitive impairment in a large autopsy series

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Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database

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Risk factors and global cognitive status related to brain arteriolosclerosis in elderly individuals

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Structural Basis of C-terminal β-Amyloid Peptide Binding by the Antibody Ponezumab for the Treatment of Alzheimer's Disease

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Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal‐dominant Alzheimer's disease

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Change in plasma Aβ peptides and onset of dementia in adults with Down syndrome

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Comparison of Intima-Media Thickness of the Carotid Artery and Cardiovascular Disease Risk Factors in Adults With Versus Without the Down Syndrome

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Low Blood Pressure in Down's Syndrome

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Passive immunotherapy targeting amyloid-β reduces cerebral amyloid angiopathy and improves vascular reactivity

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Cerebrovascular contributions to aging and Alzheimer's disease in Down syndrome

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Plasma β-Amyloid 1-40 Is Associated With the Diffuse Small Vessel Disease Subtype

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Intracerebral haemorrhage in Down syndrome: protected or predisposed?

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DOES DOWN SYNDROME SUPPORT HOMOCYSTEINE THEORY OF ARTERIOSCLEROSIS?

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Dementia in Down's syndrome

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Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy

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A quartet of Down's syndrome, Alzheimer's disease, cerebral amyloid angiopathy, and cerebral haemorrhage: interacting genetic risk factors

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Late-Life Vascular Risk Factors and Alzheimer Disease Neuropathology in Individuals with Normal Cognition

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Cerebral amyloid angiopathy as a cause of an extensive brain hemorrhage in adult patient with Down's syndrome - a case report.

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Variability of .BETA.-Amyloid Protein Deposited Lesions in Down's Syndrome Brains.

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Hemorrhagic stroke, cerebral amyloid angiopathy, Down syndrome and the Boston criteria.

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Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome

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Multi‐infarct dementia in Down's syndrome

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Inter-Dependent Mechanisms Behind Cognitive Dysfunction, Vascular Biology and Alzheimer's Dementia in Down Syndrome: Multi-Faceted Roles of APP

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Untitled work

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Dementia in Down syndrome: unique insights for Alzheimer disease research

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Alzheimer's disease associated with Down syndrome: a genetic form of dementia

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Alzheimer Disease Pathogenesis: Insights From Molecular and Cellular Biology Studies of Oligomeric Aβ and Tau Species

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The age of onset and evolution of Braak tangle stage and Thal amyloid pathology of Alzheimer’s disease in individuals with Down syndrome

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Evolution of neuroinflammation across the lifespan of individuals with Down syndrome

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Further understanding the connection between Alzheimer's disease and Down syndrome

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Opportunities, barriers, and recommendations in Down syndrome research

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Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records

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Alzheimer-Related Cerebrovascular Disease in Down Syndrome

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Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease

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Distribution of microglial phenotypes as a function of age and Alzheimer's disease neuropathology in the brains of people with Down syndrome

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Down syndrome, Alzheimer disease, and cerebral amyloid angiopathy: The complex triangle of brain amyloidosis

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A review of the mechanisms underlying selected comorbidities in Alzheimer’s disease

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Impact of increased <i>APP</i> gene dose in Down syndrome and the Dp16 mouse model

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Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer’s Disease

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Neuropathological correlates of amyloid PET imaging in Down syndrome

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The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease

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Down syndrome and Alzheimer's disease: insights into biomarkers, clinical symptoms, and pathology

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The vexing complexity of the amyloidogenic pathway

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Developmental deficits and staging of dynamics of age associated Alzheimer’s disease neurodegeneration and neuronal loss in subjects with Down syndrome

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Cerebrovascular disease emerges with age and Alzheimer’s disease in adults with Down syndrome

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JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease

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Beyond amyloid: Immune, cerebrovascular, and metabolic contributions to Alzheimer disease in people with Down syndrome

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Lecanemab and Vascular-Amyloid Deposition in Brains of People With Down Syndrome

Liu, L., Saba, A., Pascual, J. R., Miller, M. B., Hennessey, E. L., Lott, I. T., Brickman, A. M., Wilcock, D. M., Harp, J. P., Schmitt, F. A., et al. (2024) · JAMA Neurology · doi:10.1001/jamaneurol.2024.2579 · Cited by 26 · see citing works

Alzheimer’s Disease in Down Syndrome: Progress in the Design and Conduct of Drug Prevention Trials

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Astroglial and microglial pathology in Down syndrome: Focus on Alzheimer's disease

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Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold

Ghosh, U., Tse, E., Yang, H., Shi, M., Caro, C. D., Wang, F., Merz, G. E., Prusiner, S. B., Southworth, D. R., & Condello, C. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01806-y · Cited by 23 · see citing works

Rodent Modeling of Alzheimer's Disease in Down Syndrome: In vivo and ex vivo Approaches

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Pediatric Population with Down Syndrome: Obesity and the Risk of Cardiovascular Disease and Their Assessment Using Omics Techniques—Review

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Exploring the role of sex differences in Alzheimer's disease pathogenesis in Down syndrome

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Metabolic and Vascular Imaging Biomarkers in Down Syndrome Provide Unique Insights Into Brain Aging and Alzheimer Disease Pathogenesis

Head, E., Powell, D. K., & Schmitt, F. A. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00191 · Cited by 20 · see citing works

Down syndrome biobank consortium: a perspective

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Sex differences in cardiovascular disease and dysregulation in Down syndrome

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Current advances and unmet needs in Alzheimer's disease trials for individuals with Down syndrome: Navigating new therapeutic frontiers

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Cardiovascular Physiology and Pathophysiology in Down Syndrome

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Distinct Molecular Signatures of Amyloid-Beta and Tau in Alzheimer’s Disease Associated with Down Syndrome

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Resistance and resilience to Alzheimer's disease in Down syndrome

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Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimer´s disease

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From understanding to action: Exploring molecular connections of Down syndrome to Alzheimer's disease for targeted therapeutic approach

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Associations of Microbleeds and Their Topography With Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals With Down Syndrome

Zsadanyi, S. E., Morcillo-Nieto, A. O., Aranha, M. R., Aragón, I., Arriola‐Infante, J. E., Vaqué‐Alcázar, L., Montal, V., Pegueroles, J., Arranz, J., Rodríguez‐Baz, Í., et al. (2024) · Neurology · doi:10.1212/wnl.0000000000209676 · Cited by 14 · see citing works

From neurodevelopment to neurodegeneration: utilizing human stem cell models to gain insight into Down syndrome

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Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer’s disease with APPdup and Down syndrome

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Untangle the mystery behind DS-associated AD – Is APP the main protagonist?

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The history of Down syndrome–associated Alzheimer's disease; past, present, and future

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Gut dysbiosis in Down syndrome: A potentially unexplored culprit for early Alzheimer's disease

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Probing the proteome to explore potential correlates of increased Alzheimer's‐related cerebrovascular disease in adults with Down syndrome

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Plasma NT1‐tau and Aβ42 correlate with age and cognitive function in two large Down syndrome cohorts

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Cardiometabolic risk in young adults with Down syndrome

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Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease

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Biomarkers in Down syndrome can help us understand Alzheimer's disease

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Cell type characterization of spatiotemporal gene co-expression modules in Down syndrome brain

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Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 Conference

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White matter microstructure associations to amyloid burden in adults with Down syndrome

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Alzheimer’s drugs, APPlication for Down syndrome?

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Magnetic resonance imaging biomarkers for cognitive decline in Down syndrome

DiProspero, N. D., Kim, S., & Yassa, M. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818845-3.00014-1 · Cited by 8 · see citing works

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 · see citing works

Distinct cerebral amyloid angiopathy patterns in adult Down syndrome

Szalárdy, L., Lee, S., Kim, A., & Kovács, G. G. (2025) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2025.123601 · Cited by 6 · see citing works

JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease

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Postmortem Neocortical 3H-PiB Binding and Levels of Unmodified and Pyroglutamate Aβ in Down Syndrome and Sporadic Alzheimer’s Disease

Pivtoraiko, V. N., Racic, T., Abrahamson, E. E., Villemagne, V. L., Handen, B. L., Lott, I. T., Head, E., & Ikonomović, M. D. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.728739 · Cited by 6 · see citing works

Development 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 · see citing works

APOE ε4 Association With Cognition and Alzheimer Disease Biomarkers in Down Syndrome—Implications for Clinical Trials and Treatments for All

Lemere, C. A., Head, E., & Holtzman, D. M. (2021) · JAMA Neurology · doi:10.1001/jamaneurol.2021.1649 · Cited by 5 · see citing works

Cerebral Amyloid Angiopathy

Joseph‐Mathurin, N., & Raji, C. A. (2021) · Springer eBooks · doi:10.1007/978-3-030-82367-2_23 · Cited by 5 · see citing works

Alzheimer’s disease and Down syndrome

Pelt, K. L. V., Head, E., Schmitt, F. A., & Koehl, L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00020-9 · Cited by 5 · see citing works

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 · see citing works

Age 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 · see citing works

Characterization 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 · see citing works

Leptin levels are associated with body mass index and Alzheimer's disease in Down syndrome

Sordo, L., Du, A. X., Sandadi, V., Dustagheer, F. B., Pascual, J. R., Ngo, P., Hom, C. L., Doran, E. W., & Head, E. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70448 · Cited by 4 · see citing works

Multiple Cerebral Hemorrhagic Lesions Depicted by Susceptibility-Weighted Imaging in a Patient with Down Syndrome: Case Report

Yanai, K., Ishida, Y., Nishido, H., Miyamoto, S., Yamazaki, K., & Hoya, K. (2019) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2019.01.024 · Cited by 4 · see citing works

Macular and choroidal thickness in Down syndrome by swept-source optical coherence tomography (SS-OCT)

Esteban, O., Marcuello, C., Martínez, M., Lavilla, L., Marco, S., & Ascaso, F. J. (2021) · Archivos de la Sociedad Española de Oftalmología (English Edition) · doi:10.1016/j.oftale.2021.01.002 · Cited by 4 · see citing works

Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21

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Vertebrate and Invertebrate Animal Models for the Study of Down Syndrome

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A pathway linking pulse pressure to dementia in adults with Down syndrome

Rizvi, B. M., Lao, P. J., Sathishkumar, M. T., Taylor, L., Queder, N., McMillan, L. C., Edwards, N. C., Keator, D. B., Doran, E. W., Hom, C. L., et al. (2024) · Brain Communications · doi:10.1093/braincomms/fcae157 · Cited by 3 · see citing works

Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer’s disease

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Development of Molecular Neuropathology in Down Syndrome across the Lifespan

Bhattacharyya, A., de la Torre-Ubieta, L., Zhu, Y., Head, E., Swarup, V., & Sousa, A. M. M. (2025) · Journal of Neuroscience · doi:10.1523/jneurosci.1365-25.2025 · Cited by 3 · see citing works

Neuroinflammation as a driver of Down syndrome-associated Alzheimer’s disease

Qu, H., Snorradóttir, Á. Ó., Gutierrez-Uzquiza, A., Kao, C., March, M., & Hakonarson, H. H. (2026) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2026.106513 · Cited by 2 · see citing works

White matter aging across the lifespan in Down syndrome: developmental origins, Alzheimer's disease progression, and therapeutic implications

Silva, J. A., Liou, J., Parikh, S., Edwards, N. C., Kofler, J., Ikonomovic, M. D., Lai, F., Rosas, H. D., Powell, D. K., Schmitt, F. A., et al. (2026) · npj Dementia · doi:10.1038/s44400-026-00062-2 · Cited by 2 · see citing works

The role of cerebrovascular disease in aging and Alzheimer's disease among people with Down syndrome

Rizvi, B. M., Head, E., & Brickman, A. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818845-3.00012-8 · Cited by 2 · see citing works

Alzheimer's Association Update

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Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records

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Alzheimer's Disease Research Center Down Syndrome Cores: Experience from two sites

Ptomey, L. T., Hom, C. L., Wilkins, H., Doran, E. W., Wright, S. T., Hoang, D., Delehoy, B., Lott, I. T., Perales‐Puchalt, J., Helsel, B. C., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70612 · Cited by 1 · see citing works

Expansive spatial pattern of Aβ deposition in patients with cerebral amyloid angiopathy: A three-dimensional surface-to-depth analysis

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Frequency of mixed neuropathologies in individuals with Down syndrome with and without Alzheimer's dementia

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A plasma protein signature for cerebral amyloid angiopathy

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Biomarkers of Cognitive Decline and Dementia in Down Syndrome

Pais, M. V., Talib, L. L., & Forlenza, O. V. (2023) · Springer eBooks · doi:10.1007/978-3-031-43356-6_12 · Cited by 1 · see citing works

Neuropathology of trisomy 21 mosaicism in a case with early‐onset dementia

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Contributions of the neurological examination to the diagnosis of dementia in Down syndrome

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Diffuse cerebral microbleeds in a young adult with Down syndrome

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Espesor macular y coroideo en el síndrome de Down mediante swept-source tomografía de coherencia óptica (SS-OCT)

Esteban, O., Marcuello, C., Martínez, M., Lavilla, L., Marco, S., & Ascaso, F. J. (2021) · Archivos de la Sociedad Española de Oftalmología · doi:10.1016/j.oftal.2021.01.011

Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan

Kawasaki, H., Yamada, T., Takahashi, Y., Nakayama, T., Wada, T., Kosugi, S., Kusuda, S., Fujimura, M., Nakamura, H., Nishida, H., et al. (2022) · Journal of Human Genetics · doi:10.1038/s10038-022-01061-w

Alzheimer disease and neuroinflammation in Down syndrome

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DNA Hyperstructure

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Avaliação de microinfartos corticais em pacientes com síndrome de Down

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Aging and dementia in Down syndrome

Ali, S., Pelt, K. L. V., Head, E., Harp, J. P., Glueck, A. C., & Schmitt, F. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00037-6

Copy number variations of proteins associated with neurodegenerative diseases and rare neurological disorders

Yang, Z., & Lei, P. (2024) · Scientia Sinica Vitae · doi:10.1360/ssv-2024-0201

Familial Alzheimer’s disease and Down syndrome

Castellani, R. J. (2025) · Elsevier eBooks · doi:10.1016/b978-0-323-99651-8.00022-3

Lipoprotein(a) levels in Down syndrome: A conundrum

Rosas, H. D., Lai, F., & Mercaldo, N. D. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70338

Study of brain perfusion in adults with Down syndrome along the Alzheimer's disease continuum

Franquesa‐Mullerat, M., Morcillo-Nieto, A. O., Arriola‐Infante, J. E., Zsadanyi, S. E., Vaqué‐Alcázar, L., Aranha, M. R., Arranz, J., Rodríguez‐Baz, Í., Maure‐Blesa, L., Videla, L., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70581

Additional file 2 of Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold

Ghosh, U., Tse, E., Yang, H., Shi, M., Caro, C. D., Wang, F., Merz, G. E., Prusiner, S. B., Southworth, D. R., & Condello, C. (2024) · Figshare · doi:10.6084/m9.figshare.26732911

Additional file 1 of Developmental deficits and staging of dynamics of age associated Alzheimer’s disease neurodegeneration and neuronal loss in subjects with Down syndrome

Węgiel, J., Flory, M. J., Kuchna, I., Nowicki, K., Wegiel, J., Ma, S. Y., Zhong, N., Wierzba‐Bobrowicz, T., de Leon, M., Lai, F., et al. (2022) · Figshare · doi:10.6084/m9.figshare.17870374

Additional file 1 of Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold

Ghosh, U., Tse, E., Yang, H., Shi, M., Caro, C. D., Wang, F., Merz, G. E., Prusiner, S. B., Southworth, D. R., & Condello, C. (2024) · Figshare · doi:10.6084/m9.figshare.26732908

F5‐01‐02: CEREBROVASCULAR NEUROPATHOLOGY AS A FUNCTION OF AGE IN DOWN SYNDROME

Head, E. (2018) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2018.06.2969

The role of cerebrovascular disease in aging and Alzheimer's disease among people with Down syndrome

Rizvi, B. M., Head, E., & Brickman, A. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818845-3.00012-8 · Cited by 2 · see citing works

Cerebrovascular contributions to aging and Alzheimer's disease in Down syndrome

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Down syndrome, Alzheimer disease, and cerebral amyloid angiopathy: The complex triangle of brain amyloidosis

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2.Cerebrovascular neuropathology in the brains of people with Down syndrome

Aguilar, L. F., & Head, E. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.075657 · Cited by 2 · see citing works