Dementia in Down syndrome: unique insights for Alzheimer disease research

Lott, Ira T.; Head, Elizabeth

doi:10.1038/s41582-018-0132-6

Cited by 394Down syndrome and intellectual disability researchAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Dementia in Down syndrome: unique insights for Alzheimer disease research

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Lott, Ira T., Head, Elizabeth·2019·Nature Reviews Neurology

DOI 10.1038/s41582-018-0132-6PMC PMC8061428

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Abstract

Virtually all adults with Down syndrome (DS) show the neuropathological changes of Alzheimer disease (AD) by the age of 40 years. This association is partially due to overexpression of amyloid precursor protein, encoded by APP, as a result of the location of this gene on chromosome 21. Amyloid-β accumulates in the brain across the lifespan of people with DS, which provides a unique opportunity to understand the temporal progression of AD and the epigenetic factors that contribute to the age of dementia onset. This age dependency in the development of AD in DS can inform research into the presentation of AD in the general population, in whom a longitudinal perspective of the disease is not often available. Comparison of the risk profiles, biomarker profiles and genetic profiles of adults with DS with those of individuals with AD in the general population can help to determine common and distinct pathways as well as mechanisms underlying increased risk of dementia. This Review evaluates the similarities and differences between the pathological cascades and genetics underpinning DS and AD with the aim of providing a platform for common exploration of these disorders.

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There is substantial evidence of neuropathology from early in life in DS, including defects in neuronal development, increased ratio of inhibitory to excitatory neurons, alterations in neuronal dendritic spine dynamics, activation of microglia, astrocyte reactivity, and elevated production of inflammatory cytokines in the brain.
“There is substantial evidence of neuropathology from early in life in DS,6,9,10,21 including defects in neuronal development, an increased ratio of inhibitory to excitatory neurons, alterations in neuronal dendritic spines dynamics, activation of microglia, astrocyte reactivity, and elevated production of inflammatory cytokines in the brain.22,23,24,25”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [9]
The Neuropathogenesis section (page unavailable) reports developmental abnormalities beginning in utero, including disrupted neurogenesis and synaptogenesis. The Neuroinflammation section (page unavailable) reports altered microglia in adults over 40 and increased IL-1β expression in astrocytes, but does not establish these inflammatory changes from early life. The passages do not support the claimed inhibitory-to-excitatory neuron ratio or dendritic-spine dynamics; the reported increases in several inflammatory cytokines are in serum or plasma, not brain. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Individuals with Down syndrome (T21) are strongly predisposed to Alzheimer's disease, with nearly all exhibiting AD-related neuropathological features by age ∼40 and highly variable onset of dementia thereafter.
“Individuals with Down syndrome (DS), caused by trisomy of chromosome 21 (chr21, T21), are strongly predisposed to Alzheimer’s disease (AD), due to triplication of the APP gene, with ∼100% penetrance of AD brain pathology by age 40 and variable onset of dementia thereafter.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [9]
People with DS are at greater risk for developing early-onset dementia caused by AD.
“People with DS are at greater risk for developing early-onset of dementia caused by AD.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [9]

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The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
McKhann, G. M., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Kawas, C. H., Klunk, W. E., Koroshetz, W. J., Manly, J. J., Mayeux, R., et al. (2011) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.03.005 · Cited by 18,657 · see citing works
Calcium's Role in Mechanotransduction during Muscle Development
Damm, T. B., & Egli, M. (2014) · Cellular Physiology and Biochemistry · doi:10.1159/000356667 · Cited by 14,548 · see citing works
Mild Cognitive Impairment: Clinical Characterization and Outcome
Petersen, R. C., Smith, G. E., Waring, S. C., Ivnik, R. J., Tangalos, E. G., & Kokmen, E. (1999) · Archives of Neurology · doi:10.1001/archneur.56.3.303 · Cited by 8,980 · see citing works
The amyloid hypothesis of Alzheimer's disease at 25 years
Selkoe, D. J., & Hardy, J. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201606210 · Cited by 6,164 · see citing works
Sleep Drives Metabolite Clearance from the Adult Brain
Xie, L., Kang, H., Xu, Q., Chen, M. J., Liao, Y., Thiyagarajan, M., O’Donnell, J., Christensen, D. J., Nicholson, C., Iliff, J. J., et al. (2013) · Science · doi:10.1126/science.1241224 · Cited by 5,411 · see citing works
Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein
Glenner, G. G., & Wong, C. W. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(84)80190-4 · Cited by 5,404 · see citing works
Inflammation and Alzheimer’s disease
Akiyama, H. (2000) · Neurobiology of Aging · doi:10.1016/s0197-4580(00)00124-x · Cited by 4,514 · see citing works
Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound‐B
Klunk, W. E., Engler, H., Nordberg, A., Wang, Y., Blomqvist, G., Holt, D. P., Bergström, M., Savitcheva, I., Huang, G., Estrada, S., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20009 · Cited by 4,496 · see citing works
National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease
Hyman, B. T., Phelps, C. H., Beach, T. G., Bigio, E. H., Cairns, N. J., Carrillo, M. C., Dickson, D. W., Duyckaerts, C., Frosch, M. P., Masliah, E., et al. (2012) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.10.007 · Cited by 3,092 · see citing works
Oxidative stress and the amyloid beta peptide in Alzheimer’s disease
Cheignon, C., Tomas, M., Bonnefont-Rousselot, D., Faller, P., Hureau, C., & Collin, F. (2018) · Redox Biology · doi:10.1016/j.redox.2017.10.014 · Cited by 2,185 · see citing works
Transcriptional regulation by calcium, calcineurin, and NFAT
Hogan, P. G., Chen, L., Nardone, J., & Rao, A. (2003) · Genes & Development · doi:10.1101/gad.1102703 · Cited by 1,991 · see citing works
Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease.
Griffin, W. S., Stanley, L. C., Ling, C., White, L., MacLeod, V, Perrot, L. J., White, C. L., & Araoz, C. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.19.7611 · Cited by 1,777 · see citing works
Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein
Glenner, G. G., & Wong, C. W. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(84)91209-9 · Cited by 1,693 · see citing works
Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis
Karch, C. M., & Goate, A. M. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.05.006 · Cited by 1,357 · see citing works
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,249 · see citing works
Cerebral amyloid angiopathy. A critical review.
Vinters, H. V. (1987) · Stroke · doi:10.1161/01.str.18.2.311 · Cited by 1,070 · see citing works
[ 11 C]PIB in a nondemented population: Potential antecedent marker of Alzheimer disease
Mintun, M. A., LaRossa, G. N., Sheline, Y. I., Dence, C. S., Lee, S. Y., Mach, R. H., Klunk, W. E., Mathis, C. A., DeKosky, S. T., & Morris, J. C. (2006) · Neurology · doi:10.1212/01.wnl.0000228230.26044.a4 · Cited by 1,036 · see citing works
Regulation of the Calmodulin-stimulated Protein Phosphatase, Calcineurin
Klee, C. B., Ren, H., & Wang, X. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.22.13367 · Cited by 897 · see citing works
Neuronal activity enhances tau propagation and tau pathology in vivo
Wu, J. W., Hussaini, S. A., Bastille, I. M., Rodriguez, G. A., Mrejeru, A., Rilett, K., Sanders, D. W., Cook, C., Fu, H., Boonen, R. A. C. M., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4328 · Cited by 820 · see citing works
APP mouse models for Alzheimer’s disease preclinical studies.
Sasaguri, H., Nilsson, P., Hashimoto, S., Nagata, K., Saito, T., De Strooper, B., Hardy, J., Vassar, R., Winblad, B., & Saido, T. C. (2017) · The EMBO Journal · doi:10.15252/embj.201797397 · Cited by 793 · see citing works
The Evolution of Preclinical Alzheimer’s Disease: Implications for Prevention Trials
Sperling, R., Mormino, E., & Johnson, K. (2014) · Neuron · doi:10.1016/j.neuron.2014.10.038 · Cited by 725 · see citing works
Version 3 of the Alzheimer Disease Centers’ Neuropsychological Test Battery in the Uniform Data Set (UDS)
Weıntraub, S., Besser, L. M., Dodge, H. H., Teylan, M., Ferris, S. H., Goldstein, F. C., Giordani, B., Kramer, J. H., Loewenstein, D., Marson, D., et al. (2017) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000223 · Cited by 677 · see citing works
Amyloid A4 Protein and Its Precursor in Down's Syndrome and Alzheimer's Disease
Rumble, B. A., Retallack, R. W., Hilbich, C., Simms, G., Multhaup, G., Martins, R. N., Hockey, A., Montgomery, P., Beyreuther, K. T., & Masters, C. L. (1989) · New England Journal of Medicine · doi:10.1056/nejm198906013202203 · Cited by 652 · see citing works
Vascular contributions to cognitive impairment and dementia including Alzheimer's disease
Snyder, H. M., Corriveau, R. A., Craft, S., Faber, J. E., Greenberg, S. M., Knopman, D., Lamb, B. T., Montine, T. J., Nedergaard, M., Schaffer, C. B., et al. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2014.10.008 · Cited by 603 · see citing works
Epileptic activity in Alzheimer’s disease: Causes and clinical relevance
Vossel, K. A., Tartaglia, M. C., Nygaard, H. B., Zeman, A. Z., & Miller, B. L. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30044-3 · Cited by 590 · see citing works
Sequence of Deposition of Heterogeneous Amyloid β-Peptides and APO E in Down Syndrome: Implications for Initial Events in Amyloid Plaque Formation
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 · see citing works
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
Wiseman, F. K., Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V. L. J., Fisher, E. M. C., & Strydom, A. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3983 · Cited by 562 · see citing works
A Prospective Study of Alzheimer Disease in Down Syndrome
Lai, F., & Williams, R. S. (1989) · Archives of Neurology · doi:10.1001/archneur.1989.00520440031017 · Cited by 561 · see citing works
Incidence and impact of subclinical epileptiform activity in Alzheimer’s disease.
Vossel, K. A., Ranasinghe, K. G., Beagle, A. J., Mizuiri, D., Honma, S. M., Dowling, A. F., Darwish, S. M., Van Berlo, V., Barnes, D. E., Mantle, M., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24794 · Cited by 557 · see citing works
Increased App expression in a mouse model of Down’s syndrome disrupts NGF transport and causes cholinergic neuron degeneration
Salehi, A., Delcroix, J.-D., Belichenko, P. V., Zhan, K., Wu, C., Valletta, J. S., Takimoto-Kimura, R., Kleschevnikov, A. M., Sambamurti, K., Chung, P. P., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.05.022 · Cited by 543 · see citing works
Effects of Hormone Therapy on Cognition and Mood in Recently Postmenopausal Women: Findings from the Randomized, Controlled KEEPS–Cognitive and Affective Study
Gleason, C. E., Dowling, N. M., Wharton, W., Manson, J. E., Miller, V. M., Atwood, C., Brinton, E. A., Cedars, M. I., Løbo, R. A., Merriam, G. R., et al. (2015) · PLoS Medicine · doi:10.1371/journal.pmed.1001833 · Cited by 495 · see citing works
Accelerated epigenetic aging in Down syndrome
Horvath, S., Garagnani, P., Bacalini, M. G., Pirazzini, C., Salvioli, S., Gentilini, D., Blasio, A. M. D., Giuliani, C., Tung, S., Vinters, H. V., et al. (2015) · Aging Cell · doi:10.1111/acel.12325 · Cited by 488 · see citing works
The pattern of acquisition of plaques and tangles in the brains of patients under 50 years of age with Down's syndrome
Mann, D. M. A., & Esiri, M. M. (1989) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(89)90019-1 · Cited by 471 · see citing works
Sleep: A Novel Mechanistic Pathway, Biomarker, and Treatment Target in the Pathology of Alzheimer's Disease?
Mander, B. A., Winer, J. R., Jagust, W. J., & Walker, M. P. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.05.002 · Cited by 467 · see citing works
Amyloid toxicity in Alzheimer’s disease
Reiss, A. B., Arain, H. A., Stecker, M. M., Siegart, N. M., & Kasselman, L. J. (2018) · Reviews in the Neurosciences · doi:10.1515/revneuro-2017-0063 · Cited by 447 · see citing works
Molecular mapping of alzheimer‐type dementia in Down's syndrome
Prasher, V. P., Farrer, M. J., Kessling, A. M., Fisher, E. M. C., West, R. J., Barber, P. C., & Butler, A. C. (1998) · Annals of Neurology · doi:10.1002/ana.410430316 · Cited by 414 · see citing works
Neuropsychiatric signs and symptoms of Alzheimer's disease: New treatment paradigms
Lanctôt, K. L., Amatniek, J., Ancoli‐Israel, S., Arnold, S. E., Ballard, C., Cohen‐Mansfield, J., Ismail, Z., Lyketsos, C., Miller, D. S., Musiek, E., et al. (2017) · Alzheimer's & Dementia: Translational Research & Clinical Interventions · doi:10.1016/j.trci.2017.07.001 · Cited by 395 · see citing works
Amyloid Deposition Begins in the Striatum of Presenilin-1 Mutation Carriers from Two Unrelated Pedigrees
Klunk, W. E., Price, J. C., Mathis, C. A., Tsopelas, N. D., Lopresti, B. J., Ziolko, S. K., Bi, W., Hoge, J. A., Cohen, A. D., Ikonomovic, M. D., et al. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.0730-07.2007 · Cited by 389 · see citing works
Estrogen use, APOE, and cognitive decline: Evidence of gene–environment interaction
Yaffe, K., Haan, M., Byers, A., Tangen, C., & Kuller, L. (2000) · Neurology · doi:10.1212/wnl.54.10.1949 · Cited by 371 · see citing works
Pathology and pathogenesis of vascular cognitive impairment—a critical update
Jellinger, K. A. (2013) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2013.00017 · Cited by 353 · see citing works
The pathological association between down syndrome and Alzheimer disease
Mann, D. M. A. (1988) · Mechanisms of Ageing and Development · doi:10.1016/0047-6374(88)90041-3 · Cited by 346 · see citing works
Phenotype associated with APP duplication in five families
Cabrejo, L., Guyant‐Maréchal, L., Laquerrière, A., Vercelletto, M., Fournière, F. D. L., Thomas-Antérion, C., Verny, C., Letournel, F., Pasquier, F., Vital, A., et al. (2006) · Brain · doi:10.1093/brain/awl237 · Cited by 342 · see citing works
Neuropsychological Measures that Predict Progression from Mild Cognitive Impairment to Alzheimer's type dementia in Older Adults: a Systematic Review and Meta-Analysis
Belleville, S., Fouquet, C., Hudon, C., Zomahoun, H. T. V., & Croteau, J. (2017) · Neuropsychology Review · doi:10.1007/s11065-017-9361-5 · Cited by 308 · see citing works
A prospective 20‐year longitudinal follow‐up of dementia in persons with Down syndrome
McCarron, M., McCallion, P., Reilly, E., Dunne, P., Carroll, R., & Mulryan, N. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12390 · Cited by 295 · see citing works
Down syndrome and Alzheimer's disease: common pathways, common goals
Hartley, D., Blumenthal, T., Carrillo, M., DiPaolo, G., Esralew, L., Gardiner, K., Granholm, A.-C., Iqbal, K., Krams, M., Lemere, C., et al. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2014.10.007 · Cited by 290 · see citing works
Self-citation
Aging in Down Syndrome and the Development of Alzheimer's Disease Neuropathology
Head, E., T. Lott, I., M. Wilcock, D., & A. Lemere, C. (2015) · Current Alzheimer Research · doi:10.2174/1567205012666151020114607 · Cited by 289 · see citing works
Self-citation
DYRK1A-mediated Hyperphosphorylation of Tau
Ryoo, S., Jeong, H. K., Radnaabazar, C., Yoo, J.-J., Cho, H.-J., Lee, H. W., Kim, I.-S., Cheon, Y. H., Ahn, Y. S., Chung, S., et al. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m707358200 · Cited by 285 · see citing works
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between β-amyloid production and tau phosphorylation in Alzheimer disease
Kimura, R., Kamino, K., Yamamoto, M., Nuripa, A., Kida, T., Kazui, H., Hashimoto, R., Tanaka, T., Kudo, T., Yamagata, H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddl437 · Cited by 281 · see citing works
Insights into the physiological function of the β‐amyloid precursor protein: beyond Alzheimer's disease
Dawkins, E., & Small, D. H. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12675 · Cited by 279 · see citing works
RESEARCH ARTICLE: Neurogenesis Impairment and Increased Cell Death Reduce Total Neuron Number in the Hippocampal Region of Fetuses with Down Syndrome
Guidi, S., Bonasoni, P., Ceccarelli, C., Santini, D., Gualtieri, F., Ciani, E., & Bartesaghi, R. (2008) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00113.x · Cited by 276 · see citing works
Dementia in Down's syndrome
Ballard, C. G., Mobley, W. C., Hardy, J., Williams, G. H., & Corbett, A. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00063-6 · Cited by 274 · see citing works
Overexpression of Dyrk1A contributes to neurofibrillary degeneration in down syndrome
Liu, F., Liang, Z., Wegiel, J., Hwang, Y., Iqbal, K., Grundke‐Iqbal, I., Ramakrishna, N., & Gong, C. (2008) · The FASEB Journal · doi:10.1096/fj.07-104539 · Cited by 272 · see citing works
Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study
Cairns, D., Morrison, J., Allan, L., Henderson, A., Smiley, E., & Cooper, S. (2018) · BMJ Open · doi:10.1136/bmjopen-2017-018292 · Cited by 265 · see citing works
Down syndrome and the complexity of genome dosage imbalance
Antonarakis, S. (2016) · Nature reviews genetics · doi:10.1038/nrg.2016.154 · Cited by 264 · see citing works
Atypical aging in down syndrome
Zigman, W. B. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1128 · Cited by 262 · see citing works
A perfect storm: Converging paths of epilepsy and Alzheimer’s dementia intersect in the hippocampal formation
Noebels, J. L. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2010.02909.x · Cited by 261 · see citing works
Incidence And Course Of Dementia In People With Down's Syndrome: Findings From A Population‐Based Study
Holland, A. J., Hon, J., Huppert, F. A., & Stevens, F. (2000) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.2000.00263.x · Cited by 259 · see citing works
Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP
Doran, E., Keator, D., Head, E., Phelan, M. J., Kim, R., Totoiu, M., Barrio, J. R., Small, G. W., Potkin, S. G., & Lott, I. T. (2017) · Journal of Alzheimer’s Disease · doi:10.3233/jad-160836 · Cited by 244 · see citing works
Self-citation
Gait in ageing and associated dementias; its relationship with cognition
Scherder, E., Eggermont, L. H. P., Swaab, D. F., van Heuvelen, M. J. G., Kamsma, Y. P. T., de Greef, M., van Wijck, R., & Mulder, T. (2007) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2006.11.007 · Cited by 235 · see citing works
Age-Related Distribution of Neuropathologic Changes in the Cerebral Cortex of Patients With Down's Syndrome
Hof, P. R. (1995) · Archives of Neurology · doi:10.1001/archneur.1995.00540280065020 · Cited by 234 · see citing works
Down’s syndrome, neuroinflammation, and Alzheimer neuropathogenesis
Wilcock, D. M., & Griffin, W. S. T. (2013) · Journal of Neuroinflammation · doi:10.1186/1742-2094-10-84 · Cited by 230 · see citing works
EARLY SENILE DEMENTIA IN MONGOLOID IDIOCY
Jervis, G. A. (1948) · American Journal of Psychiatry · doi:10.1176/ajp.105.2.102 · Cited by 227 · see citing works
Down's syndrome: an atheroma-free model?
Murdoch, J. C., Rodger, J. C., Rao, S. S., Fletcher, C., & Dunnigan, M. G. (1977) · BMJ · doi:10.1136/bmj.2.6081.226 · Cited by 221 · see citing works
Early Amyloid Deposition in the Medial Temporal Lobe of Young Down Syndrome Patients: A Regional Quantitative Analysis
Leverenz, J. B., & Raskind, M. A. (1998) · Experimental Neurology · doi:10.1006/exnr.1997.6777 · Cited by 214 · see citing works
Obstructive sleep apnea syndrome and cognition in Down syndrome
Breslin, J. H., Spanò, G., Bootzin, R. R., Anand, P., Nadel, L., & Edgin, J. O. (2014) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12376 · Cited by 213 · see citing works
The importance of understanding individual differences in Down syndrome
Karmiloff‐Smith, A., Al‐Janabi, T., D’Souza, H., Groet, J., Massand, E., Mok, K. Y., Startin, C. M., Fisher, E., Hardy, J., Nižetić, D., et al. (2016) · F1000Research · doi:10.12688/f1000research.7506.1 · Cited by 210 · see citing works
Apolipoprotein E and Alzheimer's disease: the influence of apolipoprotein E on amyloid-β and other amyloidogenic proteins
Huynh, T.-P. V., Davis, A. A., Ulrich, J. D., & Holtzman, D. M. (2017) · Journal of Lipid Research · doi:10.1194/jlr.r075481 · Cited by 210 · see citing works
Early detection of Alzheimer's disease using PiB and FDG PET
Cohen, A. D., & Klunk, W. E. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.05.001 · Cited by 202 · see citing works
Untitled work
(1990) · PubMed · Cited by 201 · see citing works
Executive dysfunction and its association with personality and behaviour changes in the development of Alzheimer's disease in adults with Down syndrome and mild to moderate learning disabilities
Ball, S. L., Holland, A. J., Treppner, P., Watson, P., & Huppert, F. A. (2007) · British Journal of Clinical Psychology · doi:10.1348/014466507x230967 · Cited by 194 · see citing works
White Matter Hyperintensities and Cerebral Amyloidosis: Necessary and Sufficient for Clinical Expression of Alzheimer Disease?
Provenzano, F. A., Muraskin, J., Tosto, G., Narkhede, A., Wasserman, B. T., Griffith, E. Y., Guzman, V. A., Meier, I. B., Zimmerman, M. E., Brickman, A. M., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.1321 · Cited by 192 · see citing works
Rodent models in Down syndrome research: impact and future opportunities
Hérault, Y., Delabar, J. M., Fisher, E., Tybulewicz, V. L. J., Yu, E. Y., & Brault, V. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.029728 · Cited by 191 · see citing works
Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with down syndrome
Dowjat, W. K., Adayev, T., Kuchna, I., Nowicki, K., Palminiello, S., Hwang, Y. W., & Wegiel, J. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2006.11.026 · Cited by 190 · see citing works
Temporal Accrual of Complement Proteins in Amyloid Plaques in Down's Syndrome with Alzheimer's Disease
Stoltzner, S. E., Grenfell, T. J., Mori, C., Wisniewski, K. E., Wisniewski, T. M., Selkoe, D. J., & Lemere, C. A. (2000) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)64753-0 · Cited by 187 · see citing works
Down syndrome, Alzheimer’s disease and seizures
Menéndez, M. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.07.008 · Cited by 186 · see citing works
Perimenopause and emergence of an Alzheimer’s bioenergetic phenotype in brain and periphery
Mosconi, L., Berti, V., Quinn, C. G., McHugh, P. F., Petrongolo, G., Osorio, R. S., Connaughty, C., Pupi, A., Vallabhajosula, S., Isaacson, R., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0185926 · Cited by 185 · see citing works
Changes in mortality and causes of death in the Swedish Down syndrome population
Englund, A., Jönsson, B., Zander, C. S., Gustafsson, J., & Annerén, G. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35706 · Cited by 184 · see citing works
Development and validation of the Arizona Cognitive Test Battery for Down syndrome
Edgin, J. O., Mason, G. M., Allman, M. J., Capone, G. T., DeLeon, I. G., Maslen, C. L., Reeves, R. H., Sherman, S. L., & Nadel, L. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9054-3 · Cited by 182 · see citing works
The pattern of amyloid accumulation in the brains of adults with Down syndrome
Annus, T., Wilson, L. R., Hong, Y. T., Acosta‐Cabronero, J., Fryer, T. D., Cárdenas‐Blanco, A., Smith, R. V., Boros, I., Coles, J., Aigbirhio, F. I., et al. (2015) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2015.07.490 · Cited by 182 · see citing works
Alzheimer's disease: Review of hormone therapy trials and implications for treatment and prevention after menopause
Henderson, V. W. (2013) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2013.05.010 · Cited by 181 · see citing works
Oxidative Stress and Down Syndrome: A Route toward Alzheimer-Like Dementia
Marzia Perluigi, A., & Butterfield, D. A. (2011) · Current Gerontology and Geriatrics Research · doi:10.1155/2012/724904 · Cited by 180 · see citing works
Adaptive Downregulation of Mitochondrial Function in Down Syndrome
Helguera, P. R., Seiglie, J., Rodríguez, J. A., Hanna, M., Helguera, G. F., & Busciglio, J. A. (2013) · Cell Metabolism · doi:10.1016/j.cmet.2012.12.005 · Cited by 179 · see citing works
Obstructive Sleep Apnea in Adults with Down Syndrome
Trois, M. S., Capone, G. T., Lutz, J., Melendres, M. C., Schwartz, A. R., Collop, N. A., & Marcus, C. L. (2009) · Journal of Clinical Sleep Medicine · doi:10.5664/jcsm.27541 · Cited by 176 · see citing works
Risk factors for transitions from normal to mild cognitive impairment and dementia
Kryscio, R. J., Schmitt, F. A., Salazar-Uribe, J. C., Mendiondo, M. S., & Markesbery, W. R. (2006) · Neurology · doi:10.1212/01.wnl.0000203264.71880.45 · Cited by 173 · see citing works
High Striatal Amyloid β-Peptide Deposition Across Different Autosomal Alzheimer Disease Mutation Types
Villemagne, V. L., Ataka, S., Mizuno, T., Brooks, W. S., Wada, Y., Kondo, M., Jones, G. R., Watanabe, Y., Mulligan, R. S., Nakagawa, M., et al. (2009) · Archives of Neurology · doi:10.1001/archneurol.2009.285 · Cited by 171 · see citing works
Normal ageing in adults with Down's syndrome: a longitudinal study
Devenny, D. A., Silverman, W. P., Hill, A. L., Jenkins, E., Sersen, E. A., & Wisniewski, K. E. (1996) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.1996.tb00624.x · Cited by 171 · see citing works
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines
Capone, G. T., Chicoine, B. A., Bulova, P. D., Stephens, M., Hart, S. J., Crissman, B. G., Videlefsky, A., Myers, K., Roizen, N., Esbensen, A. J., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38512 · Cited by 168 · see citing works
Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer’s Disease
Colacurcio, D. J., Pensalfini, A., Jiang, Y., & Nixon, R. A. (2018) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.10.001 · Cited by 167 · see citing works
Mosaicism for trisomy 21: A review
Papavassiliou, P., Charalsawadi, C., Rafferty, K. A., & Jackson‐Cook, C. K. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36861 · Cited by 166 · see citing works
The brain map of gait variability in aging, cognitive impairment and dementia—A systematic review
Tian, Q., Chastan, N., Bair, W.-N., Resnick, S. M., Ferrucci, L., & Studenski, S. A. (2017) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2017.01.020 · Cited by 158 · see citing works
Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome brain
Perluigi, M., Pupo, G., Tramutola, A., Cini, C., Coccia, R., Barone, E., Head, E., Butterfield, D. A., & Di Domenico, F. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.04.007 · Cited by 155 · see citing works
Self-citation
Age‐related cortical grey matter reductions in non‐demented Down’s syndrome adults determined by MRI with voxel‐based morphometry
Teipel, S. J., Alexander, G. E., Schapiro, M. B., Möller, H., Rapoport, S. I., & Hampel, H. J. (2004) · Brain · doi:10.1093/brain/awh101 · Cited by 154 · see citing works
The discovery of Alzheimer‐causing mutations in the <scp>APP</scp> gene and the formulation of the “amyloid cascade hypothesis”
Hardy, J. (2017) · The FEBS Journal · doi:10.1111/febs.14004 · Cited by 153 · see citing works
Down Syndrome: From Understanding the Neurobiology to Therapy
Gardiner, K., Hérault, Y., Lott, I. T., Antonarakis, S. E., Reeves, R. H., & Dierssen, M. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3728-10.2010 · Cited by 149 · see citing works
Self-citation
Neuropathological Changes in Down's Syndrome Hippocampal Formation
Hyman, B. T. (1995) · Archives of Neurology · doi:10.1001/archneur.1995.00540280059019 · Cited by 147 · see citing works
Untitled work
(1996) · PubMed · Cited by 140 · see citing works
Alzheimer's Disease in Down Syndrome.
Head, E., Powell, D. K., Gold, B. T., & Schmitt, F. A. (2012) · PubMed · Cited by 139 · see citing works
Self-citation
Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down syndrome and normal brain
Nistor, M., Don, M., Parekh, M., Sarsoza, F. M., Goodus, M. T., López, G., Kawas, C. H., Leverenz, J. B., Doran, E. W., Lott, I. T., et al. (2006) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2006.06.023 · Cited by 135 · see citing works
Self-citation
Neuroanatomy of Down Syndrome in vivo: A Model of Preclinical Alzheimer’s Disease
Teipel, S. J., & Hampel, H. J. (2006) · Behavior Genetics · doi:10.1007/s10519-006-9047-x · Cited by 134 · see citing works
Impairment of proteostasis network in Down syndrome prior to the development of Alzheimer's disease neuropathology: Redox proteomics analysis of human brain
Domenico, F. D., Coccia, R., Cocciolo, A., Murphy, M. P., Cenini, G., Head, E., Butterfield, D. A., Giorgi, A., Schininà, M. E., Mancuso, C., et al. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2013.04.013 · Cited by 133 · see citing works
Self-citation
Increased acetyl and total histone levels in post-mortem Alzheimer's disease brain
Narayan, P. J., Lill, C. L., Faull, R. L. M., Curtis, M. A., & Dragunow, M. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.11.023 · Cited by 133 · see citing works
Imaging brain amyloid in nondemented young adults with Down syndrome using Pittsburgh compound B
Handen, B. L., Cohen, A. D., Umapathy, C., Bulova, P. D., Cannon, S. A., Cohen, W. I., Mathis, C. A., Price, J. C., & Klunk, W. E. (2012) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2011.09.229 · Cited by 131 · see citing works
Neuronal exosomes reveal Alzheimer's disease biomarkers in Down syndrome
Hamlett, E. D., Goetzl, E. J., Ledreux, A., Vasilevko, V., Boger, H. A., LaRosa, A., Clark, D., Carroll, S. L., Carmona‐Iragui, M., Fortea, J., et al. (2017) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.08.012 · Cited by 129 · see citing works
Self-citation
Down syndrome and beta-amyloid deposition
Head, E., & Lott, I. T. (2004) · Current Opinion in Neurology · doi:10.1097/00019052-200404000-00003 · Cited by 125 · see citing works
Self-citation
The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers
Wallon, D., The collaborators of the GMAJ project, Rousseau, S., Rovelet‐Lecrux, A., Quillard‐Muraine, M., Guyant‐Maréchal, L., Martinaud, O., Pariente, J., Puel, M., Rollin‐Sillaire, A., et al. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-120172 · Cited by 124 · see citing works
Association between frontal cortex oxidative damage and beta-amyloid as a function of age in Down syndrome
Cenini, G., Dowling, A. L. S., Beckett, T. L., Barone, E., Mancuso, C., Murphy, M. P., LeVine, H., Lott, I. T., Schmitt, F. A., Butterfield, D. A., et al. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.10.001 · Cited by 122 · see citing works
Self-citation
Identification of a DNA methylation signature in blood cells from persons with Down Syndrome
Bacalini, M. G., Gentilini, D., Boattini, A., Giampieri, E., Pirazzini, C., Giuliani, C., Fontanesi, E., Scurti, M., Remondini, D., Capri, M., et al. (2014) · Aging · doi:10.18632/aging.100715 · Cited by 121 · see citing works
PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease
Koivunen, J., Verkkoniemi, A., Aalto, S., Paetau, A. E., Ahonen, J.-P., Viitanen, M. H., Någren, K., Rokka, J., Haaparanta‐Solin, M., Kalimo, H., et al. (2008) · Brain · doi:10.1093/brain/awn107 · Cited by 117 · see citing works
The Early Presentation of Dementia in People with Down Syndrome: a Systematic Review of Longitudinal Studies
Lautarescu, A., Holland, A. J., & Zaman, S. H. (2017) · Neuropsychology Review · doi:10.1007/s11065-017-9341-9 · Cited by 115 · see citing works
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II
Capone, G. T., Stephens, M., Santoro, S. L., Chicoine, B. A., Bulova, P. D., Peterson, M., Jasien, J., & Smith, A. J. B. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61604 · Cited by 115 · see citing works
Thyroid Function and Alzheimer's Disease
Tan, Z. S., & Vasan, R. S. (2009) · Journal of Alzheimer s Disease · doi:10.3233/jad-2009-0991 · Cited by 114 · see citing works
Pharmacological approaches to improving cognitive function in Down syndrome: current status and considerations
Gardiner, K. (2014) · Drug Design Development and Therapy · doi:10.2147/dddt.s51476 · Cited by 114 · see citing works
The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome
Węgiel, J., Dowjat, K., Kaczmarski, W., Kuchna, I., Nowicki, K., Frackowiak, J., Mazur‐Kolecka, B., Wegiel, J., Silverman, W. P., Reisberg, ‌., et al. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0419-6 · Cited by 113 · see citing works
Obstructive sleep apnoea and Alzheimer’s disease: In search of shared pathomechanisms
Polšek, D., Gildeh, N., Cash, D., Winsky‐Sommerer, R., Williams, S., Turkheimer, F., Leschziner, G. D., Morrell, M. J., & Rosenzweig, I. (2017) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2017.12.004 · Cited by 112 · see citing works
Slowing the progression of Alzheimer’s disease; what works?
Nelson, L., & Tabet, N. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2015.07.002 · Cited by 111 · see citing works
Omega-3 fatty acids, lipids, and apoE lipidation in Alzheimer's disease: a rationale for multi-nutrient dementia prevention
Grimm, M. O. W., Michaelson, D. M., & Hartmann, T. (2017) · Journal of Lipid Research · doi:10.1194/jlr.r076331 · Cited by 110 · see citing works
Down syndrome individuals with Alzheimer's disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer's disease
Wilcock, D. M., Hurban, J., Helman, A. M., Sudduth, T. L., McCarty, K. L., Beckett, T. L., Ferrell, J. C., Murphy, M. P., Abner, E. L., Schmitt, F. A., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.05.016 · Cited by 110 · see citing works
Self-citation
Dementia and mild cognitive impairment in adults with intellectual disability: Issues of diagnosis
Krinsky‐McHale, S. J., & Silverman, W. P. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1126 · Cited by 108 · see citing works
Onset of dementia is associated with age at menopause in women with Down's syndrome
Schupf, N., Pang, D. I., Patel, B. N., Silverman, W. P., Schubert, R., Lai, F., Kline, J. K., Stern, Y., Ferin, M., Tycko, B., et al. (2003) · Annals of Neurology · doi:10.1002/ana.10677 · Cited by 105 · see citing works
Cerebrovascular pathology in Down syndrome and Alzheimer disease
Head, E., Phelan, M. J., Doran, E., Kim, R. C., Poon, W. W., Schmitt, F. A., & Lott, I. T. (2017) · Acta Neuropathologica Communications · doi:10.1186/s40478-017-0499-4 · Cited by 105 · see citing works
Self-citation
Neuroinflammation in the Aging Down Syndrome Brain; Lessons from Alzheimer's Disease
Wilcock, D. M. (2012) · Current Gerontology and Geriatrics Research · doi:10.1155/2012/170276 · Cited by 104 · see citing works
Complement Association with Neurons and β-Amyloid Deposition in the Brains of Aged Individuals with Down Syndrome
Head, E., Azizeh, B. Y., Lott, I. T., Tenner, A. J., Cotman, C. W., & Cribbs, D. H. (2001) · Neurobiology of Disease · doi:10.1006/nbdi.2000.0380 · Cited by 103 · see citing works
Self-citation
Cognitive functioning in relation to brain amyloid-β in healthy adults with Down syndrome
Hartley, S. L., Handen, B. L., Devenny, D. A., Hardison, R. M., Mihaila, I., Price, J. C., Cohen, A. D., Klunk, W. E., Seltzer, M. M., Johnson, S. C., et al. (2014) · Brain · doi:10.1093/brain/awu173 · Cited by 100 · see citing works
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation
Iulita, M. F., Ower, A., Barone, C., Pentz, R., Gubert, P., Romano, C., Cantarella, R. A., Elia, F., Buono, S., Recupero, M., et al. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.05.001 · Cited by 99 · see citing works
Link Between DYRK1A Overexpression and Several-Fold Enhancement of Neurofibrillary Degeneration With 3-Repeat Tau Protein in Down Syndrome
Węgiel, J., Kaczmarski, W., Barua, M., Kuchna, I., Nowicki, K., Wang, K.-C., Wegiel, J., Mazur‐Kolecka, B., Frackowiak, J., Mazur‐Kolecka, B., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e318202bfa1 · Cited by 98 · see citing works
Redox proteomics analysis of HNE-modified proteins in Down syndrome brain: clues for understanding the development of Alzheimer disease
Domenico, F. D., Pupo, G., Tramutola, A., Giorgi, A., Schininà, M. E., Coccia, R., Head, E., Butterfield, D. A., & Marzia Perluigi, A. (2014) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2014.03.027 · Cited by 98 · see citing works
Self-citation
Estrogen receptor β in Alzheimer’s disease: From mechanisms to therapeutics
Zhao, L., Woody, S. K., & Chhibber, A. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2015.08.001 · Cited by 97 · see citing works
Behavioural and psychological symptoms of dementia in Down syndrome: Early indicators of clinical Alzheimer's disease?
Dekker, A. D., Strydom, A., Coppus, A. M. W., Nižetić, D., Vermeiren, Y., Naudé, P. J. W., Dam, D. V., Potier, M., Fortea, J., & Deyn, P. P. D. (2015) · Cortex · doi:10.1016/j.cortex.2015.07.032 · Cited by 96 · see citing works
Mitochondria as pharmacological targets in Down syndrome
Valenti, D., Braidy, N., Rasmo, D. D., Signorile, A., Rossi, L., Atanasov, A. G., Volpicella, M., Henrion‐Caude, A., Nabavi, S. M., & Vacca, R. A. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.08.014 · Cited by 96 · see citing works
Down Syndrome and Dementia: Seizures and Cognitive Decline
Lott, I. T., Doran, E. W., Nguyen, V. Q., Tournay, A. E., Movsesyan, N., & Gillen, D. L. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-111613 · Cited by 95 · see citing works
Self-citation
PET Imaging of Tau Pathology and Relationship to Amyloid, Longitudinal MRI, and Cognitive Change in Down Syndrome: Results from the Down Syndrome Biomarker Initiative (DSBI)
Rafii, M. S., Lukic, A. S., Andrews, R. D., Brewer, J. B., Rissman, R. A., Strother, S. C., Wernick, M. N., Pennington, C., Mobley, W. C., Ness, S. L., et al. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-170390 · Cited by 95 · see citing works
Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome
Carsetti, R., Valentini, D., Marcellini, V., Scarsella, M., Marasco, E., Giustini, F., Bartuli, A., Villani, A., & Ugazio, A. G. (2014) · European Journal of Immunology · doi:10.1002/eji.201445049 · Cited by 94 · see citing works
Clinical validity of brain fluorodeoxyglucose positron emission tomography as a biomarker for Alzheimer's disease in the context of a structured 5-phase development framework
Garibotto, V., Herholz, K., Boccardi, M., Picco, A., Varrone, A., Nordberg, A. K., Nobili, F. M., & Ratib, O. M. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.03.033 · Cited by 91 · see citing works
Onset of dementia is associated with apolipoprotein E ε4 in Down's syndrome
Schupf, N., Lee, J. H., Kapell, D., Zigman, W. B., Canto, B., Tycko, B., & Mayeux, R. P. (1996) · Annals of Neurology · doi:10.1002/ana.410400518 · Cited by 91 · see citing works
Possible Compensatory Events in Adult Down Syndrome Brain Prior to the Development of Alzheimer Disease Neuropathology: Targets for Nonpharmacological Intervention
Head, E., Lott, I. T., Patterson, D. W., Doran, E. W., & Haier, R. J. (2007) · Journal of Alzheimer s Disease · doi:10.3233/jad-2007-11110 · Cited by 89 · see citing works
Self-citation
Significant effect of APOE epsilon 4 genotype on the risk of dementia in Alzheimer's disease and mortality in persons with Down Syndrome
Prasher, V. P., Sajith, S. G., Rees, S. D., Patel, A., Tewari, S., Schupf, N., & Zigman, W. B. (2008) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.2039 · Cited by 89 · see citing works
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal‐dominant Alzheimer's disease
Carmona‐Iragui, M., Balasa, M., Benejam, B., Alcolea, D. A., Fernández, S., Videla, L., Sala, I., Sánchez‐Saudinós, M. B., Morenas‐Rodríguez, E., Nogué, R. R., et al. (2017) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2017.03.007 · Cited by 88 · see citing works
Self-citation
The effects of normal aging on amyloid‐β deposition in nondemented adults with Down syndrome as imaged by carbon 11–labeled Pittsburgh compound B
Lao, P. J., Betthauser, T. J., Hillmer, A. T., Price, J. C., Klunk, W. E., Mihaila, I., Higgins, A. T., Bulova, P. D., Hartley, S. L., Hardison, R. M., et al. (2015) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2015.05.013 · Cited by 88 · see citing works
Frontal white matter integrity in adults with Down syndrome with and without dementia
Powell, D. K., Caban‐Holt, A., Jicha, G. A., Robertson, W. C., Davis, R., Gold, B. T., Schmitt, F. A., & Head, E. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.01.137 · Cited by 87 · see citing works
Self-citation
Role of common and rare APP DNA sequence variants in Alzheimer disease
Hooli, B. V., Mohapatra, G., Mattheisen, M., Parrado, A. R., Roehr, J. T., Shen, Y., Gusella, J. F., Moir, R., Saunders, A. J., Lange, C., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182515972 · Cited by 87 · see citing works
Neuroimaging and other modalities to assess Alzheimer's disease in Down syndrome
Neale, N., Padilla, C., Fonseca, L. M., Holland, T., & Zaman, S. H. (2017) · NeuroImage Clinical · doi:10.1016/j.nicl.2017.10.022 · Cited by 86 · see citing works
Motoric Cognitive Risk Syndrome: Predictor of Dementia and Age-Related Negative Outcomes
Chhetri, J. K., Chan, P., Vellas, B. J., & Cesari, M. (2017) · Frontiers in Medicine · doi:10.3389/fmed.2017.00166 · Cited by 85 · see citing works
The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer’s disease biomarkers in down syndrome
Rafii, M. S., Wishnek, H., Brewer, J. B., Donohue, M., Ness, S. L., Mobley, W. C., Aisen, P. S. S., & Rissman, R. A. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00239 · Cited by 84 · see citing works
Review: Somatic mutations in neurodegeneration
Leija‐Salazar, M., Piette, C. E., & Proukakis, C. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12465 · Cited by 84 · see citing works
Behavioural disturbance in people with Down's syndrome and dementia
Prasher, V. P., & Filer, A. D. (1995) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.1995.tb00547.x · Cited by 83 · see citing works
Cognitive decline and brain amyloid-β accumulation across 3 years in adults with Down syndrome
Hartley, S. L., Handen, B. L., Devenny, D. A., Mihaila, I., Hardison, R. M., Lao, P. J., Klunk, W. E., Bulova, P. D., Johnson, S. C., & Christian, B. T. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.05.019 · Cited by 81 · see citing works
Histopathologische Untersuchungen über Entstehung und Wesen der senilen Plaques
Struwe, F. E. (1929) · Zeitschrift für die gesamte Neurologie und Psychiatrie · doi:10.1007/bf02876635 · Cited by 79 · see citing works
Down Syndrome Disintegrative Disorder
Worley, G., Crissman, B. G., Cadogan, E., Milleson, C., Adkins, D. W., & Kishnani, P. S. (2014) · Journal of Child Neurology · doi:10.1177/0883073814554654 · Cited by 78 · see citing works
Healthcare and guidelines: A population-based survey of recorded medical problems and health surveillance for people with Down syndrome
Määttä, T., Määttä, J., Tervo-Määttä, T., Taanila, A. M., Kaski, M., & Iivanainen, M. V. (2011) · Journal of Intellectual & Developmental Disability · doi:10.1080/13668250.2011.570253 · Cited by 77 · see citing works
The Presence of Isoaspartic Acid in β-Amyloid Plaques Indicates Plaque Age
Fonseca, M. I., Head, E., Velázquez, P., Cotman, C. W., & Tenner, A. J. (1999) · Experimental Neurology · doi:10.1006/exnr.1999.7058 · Cited by 75 · see citing works
Self-citation
Thyroid dysfunction in children with Down syndrome: a literature review
King, K., O’Gorman, C. S., & Gallagher, S. M. (2013) · Irish Journal of Medical Science (1971 -) · doi:10.1007/s11845-013-0994-y · Cited by 75 · see citing works
Effects of Age, Task Performance, and Structural Brain Development on Face Processing
Kadosh, K. C., Johnson, M. H., Dick, F., Kadosh, R. C., & Blakemore, S. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs150 · Cited by 73 · see citing works
Cognitive decline and dementia in Down syndrome
Hithersay, R., Hamburg, S., Knight, B., & Strydom, A. (2016) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000307 · Cited by 73 · see citing works
Microglial pathology in Down syndrome
Xue, Q., & Streit, W. J. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0864-5 · Cited by 72 · see citing works
Positron Emission Tomography of Brain β-Amyloid and Tau Levels in Adults With Down Syndrome
Nelson, L. D., Siddarth, P., Kepe, V., Scheibel, K. E., Huang, S. C., Barrio, J. R., & Small, G. W. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.104 · Cited by 72 · see citing works
Characteristics of Adults with Down Syndrome: Prevalence of Age-Related Conditions
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Genetics: Finding risk factors
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Self-citation
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BACE2 Expression Increases in Human Neurodegenerative Disease
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Self-citation
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Self-citation
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RCAN1 (DSCR1 or Adapt78)* stimulates expression of GSK‐3β
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Self-citation
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Self-citation
Endocrine Autoimmunity in Down's Syndrome
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Effect of galantamine on verbal repetition in AD
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Increased levels of plasma total tau in adult Down syndrome
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Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome
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Self-citation
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-citation
Mosaicism for Trisomy 21 in a Patient With Young-Onset Dementia
Ringman, J. M., Rao, P. N., Lu, P. H., & Cederbaum, S. D. (2008) · Archives of Neurology · doi:10.1001/archneur.65.3.412 · Cited by 43 · see citing works
Thyroid dysfunction in patients with Down syndrome: results from a multi-institutional registry study.
Lavigne, J., Sharr, C., Elsharkawi, I., Ozonoff, A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J. C., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38219 · Cited by 43 · see citing works
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Cerebrospinal 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 41 · see citing works
Dissecting Alzheimer disease in Down syndrome using mouse models
Choong, X. Y., Tosh, J., Pulford, L. J., & Fisher, E. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00268 · Cited by 40 · see citing works

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[3]Bertrand I & Koffas D Cas d'idioti mongolienne adulte avec nombreuses plaques senile et concretions calcaires pallidales. Rev. Neurol 78, 338 (1946).
[154]Hartley D Down syndrome and Alzheimer's disease: Common pathways, common goals. Alzheimers Dement, doi: 10.1016/j.jalz.2014.10.007 (2014). PMC4817997 25510383 · DOI · Paper page

Sorted by citations

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Cenini, G., Hebisch, M., Iefremova, V., Flitsch, L. J., Breitkreuz, Y., Tanzi, R. E., Kim, D. Y., Peitz, M., & Brüstle, O. (2020) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2020.103568 · Cited by 56 · see citing works
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Jørgensen, I. F., Aguayo‐Orozco, A., Lademann, M., & Brunak, S. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12091 · Cited by 54 · see citing works
Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer’s disease
Venkataraman, L., Fair, S. R., McElroy, C. A., Hester, M. E., & Fu, H. (2020) · Stem Cell Reviews and Reports · doi:10.1007/s12015-020-10068-9 · Cited by 54 · see citing works
Inborn Errors of Adaptive Immunity in Down Syndrome
Verstegen, R. H. J., & Kusters, M. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00805-7 · Cited by 55 · see citing works
Impact of increased APP gene dose in Down syndrome and the Dp16 mouse model
Sawa, M., Overk, C., Becker, A., Derse, D., Albay, R., Weldy, K., Salehi, A., Beach, T. G., Doran, E., Head, E., et al. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12463 · Cited by 54 · see citing works
Self-citation
Neurogenetic disorders across the lifespan: from aberrant development to degeneration
Hickman, R. A., O’Shea, S. A., Mehler, M. F., & Chung, W. K. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-021-00595-5 · Cited by 55 · see citing works
Safety, Tolerability, and Immunogenicity of the ACI-24 Vaccine in Adults With Down Syndrome: A Phase 1b Randomized Clinical Trial
Rafii, M. S., Sol, O., Mobley, W. C., Delpretti, S., Skotko, B. G., Burke, A. D., Sabbagh, M. N., Yuan, S. H., Rissman, R. A., Pulsifer, M., et al. (2022) · JAMA Neurology · doi:10.1001/jamaneurol.2022.0983 · Cited by 52 · see citing works
The Age of Brain Organoids: Tailoring Cell Identity and Functionality for Normal Brain Development and Disease Modeling
Porciúncula, L. O., Goto‐Silva, L., Ledur, P. F., & Rehen, S. K. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.674563 · Cited by 51 · see citing works
Secondary Protein Aggregates in Neurodegenerative Diseases: Almost the Rule Rather than the Exception
Moda, F., Ciullini, A., Dellarole, I. L., Lombardo, A., Campanella, N., Bufano, G., Cazzaniga, F. A., & Giaccone, G. (2023) · Frontiers in Bioscience-Landmark · doi:10.31083/j.fbl2810255 · Cited by 48 · see citing works
Cryo-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
Hijacking Endocytosis and Autophagy in Extracellular Vesicle Communication: Where the Inside Meets the Outside
Pedrioli, G., & Paganetti, P. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.595515 · Cited by 48 · see citing works
Enlarged Perivascular Spaces in Infancy and Autism Diagnosis, Cerebrospinal Fluid Volume, and Later Sleep Problems
Garic, D., McKinstry, R. C., Rutsohn, J., Slomowitz, R., Wolff, J. J., MacIntyre, L., Weisenfeld, L. A. H., Kim, S. H., Pandey, J., John, T. S., et al. (2023) · JAMA Network Open · doi:10.1001/jamanetworkopen.2023.48341 · Cited by 49 · see citing works
Insulin resistance, oxidative stress and mitochondrial defects in Ts65dn mice brain: a harmful synergistic path in down syndrome
Lanzillotta, C., Tramutola, A., Di Giacomo, G., Marini, F., Butterfield, D. A., Di Domenico, F., Perluigi, M., & Barone, E. (2021) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2021.01.042 · Cited by 47 · see citing works
Blood Biomarkers for Alzheimer’s Disease in Down Syndrome
Montoliu‐Gaya, L., Strydom, A., Blennow, K., Zetterberg, H., & Ashton, N. J. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10163639 · Cited by 45 · see citing works
The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders – Evidence from human neuronal cell models
Réthelyi, J., Vincze, K., Schall, D., Glennon, J. C., & Berkel, S. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105330 · Cited by 49 · see citing works
Alzheimer’s Disease, a Lipid Story: Involvement of Peroxisome Proliferator-Activated Receptor α
Sáez-Orellana, F., Octave, J., & Pierrot, N. (2020) · Cells · doi:10.3390/cells9051215 · Cited by 45 · see citing works
Proteostasis Decline and Redox Imbalance in Age-Related Diseases: The Therapeutic Potential of NRF2
Buttari, B., Tramutola, A., Rojo, A. I., Chondrogianni, N., Saha, S., Berry, A., Giona, L., Miranda, J. P., Profumo, E., Davinelli, S., et al. (2025) · Biomolecules · doi:10.3390/biom15010113 · Cited by 47 · see citing works
Chronic PERK induction promotes Alzheimer-like neuropathology in Down syndrome: Insights for therapeutic intervention
Lanzillotta, C., Zuliani, I., Tramutola, A., Barone, E., Blarzino, C., Folgiero, V., Caforio, M., Valentini, D., Villani, A., Locatelli, F., et al. (2020) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2020.101892 · Cited by 44 · see citing works
Self-citation
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Martinez, J. L., Zammit, M. D., West, N. R., Christian, B. T., & Bhattacharyya, A. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.703876 · Cited by 45 · see citing works
Leucettinibs, a Class of DYRK/CLK Kinase Inhibitors Inspired by the Marine Sponge Natural Product Leucettamine B
Deau, E., Lindberg, M. F., Miege, F., Roche, D., George, N. S., George, P. G., Krämer, A., Knapp, S., & Meijer, L. (2023) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.3c00884 · Cited by 42 · see citing works
The Impact of Oxidative Stress on Pediatrics Syndromes
Micangeli, G., Menghi, M., Profeta, G., Tarani, F., Mariani, A., Petrella, C., Barbato, C., Ferraguti, G., Ceccanti, M., Tarani, L., et al. (2022) · Antioxidants · doi:10.3390/antiox11101983 · Cited by 44 · see citing works
Nerve growth factor (NGF) pathway biomarkers in Down syndrome prior to and after the onset of clinical Alzheimer's disease: A paired CSF and plasma study
Pentz, 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 · see citing works
Testing the amyloid cascade hypothesis: Prevention trials in autosomal dominant Alzheimer disease
Levin, J., Vöglein, J., Quiroz, Y. T., Bateman, R. J., Ghisays, V., Lopera, F., McDade, E., Reiman, E., Tariot, P. N., & Morris, J. C. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12624 · Cited by 40 · see citing works
The interaction between the nervous system and the stomatognathic system: from development to diseases
Wu, Y., Lan, Y., Mao, J., Shen, J., Kang, T., & Xie, Z. (2023) · International Journal of Oral Science · doi:10.1038/s41368-023-00241-4 · Cited by 40 · see citing works
Biomarker-Based Precision Therapy for Alzheimer’s Disease: Multidimensional Evidence Leading a New Breakthrough in Personalized Medicine
Bougea, A. M., & Gourzis, P. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13164661 · Cited by 43 · see citing works
Clinical implications of immune‐mediated diseases in children with Down syndrome
Verstegen, R. H. J., Chang, K. J. J., & Kusters, M. (2019) · Pediatric Allergy and Immunology · doi:10.1111/pai.13133 · Cited by 40 · see citing works
Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer’s disease and not in other tauopathies
Pires, G., McElligott, S., Drusinsky, S., Halliday, G. M., Potier, M., Wısnıewskı, T., & Drummond, E. (2019) · Acta Neuropathologica Communications · doi:10.1186/s40478-019-0848-6 · Cited by 39 · see citing works
Cognitive indicators of transition to preclinical and prodromal stages of Alzheimer's disease in Down syndrome
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 39 · see citing works
The value and contribution of intellectual disability nurses/nurses caring for people with intellectual disability in intellectual disability settings: A scoping review
Doody, O., Hennessy, T., Moloney, M., Lyons, R., & Bright, A. (2022) · Journal of Clinical Nursing · doi:10.1111/jocn.16289 · Cited by 48 · see citing works
The Challenging Pathway of Treatment for Neurogenesis Impairment in Down Syndrome: Achievements and Perspectives
Stagni, F., & Bartesaghi, R. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.903729 · Cited by 31 · see citing works
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 36 · see citing works
Self-citation
Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules
Lanzillotta, C., & Domenico, F. D. (2021) · Biomolecules · doi:10.3390/biom11020266 · Cited by 35 · see citing works
The vexing complexity of the amyloidogenic pathway
Castro, M., Hadziselimovic, A., & Sanders, C. R. (2019) · Protein Science · doi:10.1002/pro.3606 · Cited by 36 · see citing works
Aberrant crosstalk between insulin signaling and mTOR in young Down syndrome individuals revealed by neuronal‐derived extracellular vesicles
Perluigi, M., Picca, A., Montanari, E., Calvani, R., Marini, F., Matassa, R., Tramutola, A., Villani, A., Familiari, G., Domenico, F. D., et al. (2022) · Alzheimer's & Dementia · doi:10.1002/alz.12499 · Cited by 35 · see citing works
Age of Alzheimer's disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium
Larsen, F. K., Baksh, R. A., McGlinchey, E., Langballe, E. M., Benejam, B., Beresford‐Webb, J., McCarron, M., Coppus, A., Falquero, S., Fortea, J., et al. (2024) · Alzheimer's & Dementia · doi:10.1002/alz.13779 · Cited by 34 · see citing works
Mechanisms and therapeutic potential of interactions between human amyloids and viruses
Michiels, E., Rousseau, F., & Schymkowitz, J. W. H. (2020) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03711-8 · Cited by 35 · see citing works
A qualitative study of the needs of older adults with intellectual disabilities
McCausland, D., Guérin, S., Tyrrell, J., Donohoe, C., O’Donoghue, I., & Dodd, P. C. (2021) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.12900 · Cited by 33 · see citing works
Disentangling the Amyloid Pathways: A Mechanistic Approach to Etiology
Malmberg, M., Malm, T., Gustafsson, O., Sturchio, A., Graff, C., Espay, A. J., Wright, A. P. H., Andaloussi, S. E., Lindén, A., & Ezzat, K. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00256 · Cited by 30 · see citing works
The Nerve Growth Factor Metabolic Pathway Dysregulation as Cause of Alzheimer’s Cholinergic Atrophy
Carmo, S. D., Kannel, B., & Cuello, A. C. (2021) · Cells · doi:10.3390/cells11010016 · Cited by 34 · see citing works
Early diagnosis and targeted treatment strategy for improved therapeutic outcomes in Alzheimer’s disease
Guest, F. L., Rahmoune, H., & Guest, P. C. (2020) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-030-42667-5_8 · Cited by 34 · see citing works
Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer’s Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study
Hendrix, J. A., Airey, D. C., Britton, A. F., Burke, A. D., Capone, G. T., Chavez, R., Chen, J. M., Chicoine, B. A., Costa, A. C. S., Dage, J. L., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10091907 · Cited by 32 · see citing works
Self-citation
Informant-based assessment instruments for dementia in people with intellectual disability: A systematic review and standardised evaluation
Zeilinger, E. L., Novaković, I. Z., Komenda-Schned, S., Franken, F., Sobisch, M., Mayer, A., Neumann, L. C., Loosli, S. V., Hoare, S., & Pietschnig, J. (2021) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2021.104148 · Cited by 32 · see citing works
Translational validity and implications of pharmacotherapies in preclinical models of Down syndrome
Rueda, N., Flórez, J., Dierssen, M., & Martínez‐Cué, C. (2019) · Progress in brain research · doi:10.1016/bs.pbr.2019.10.001 · Cited by 29 · see citing works
A new role for matrix metalloproteinase-3 in the NGF metabolic pathway: Proteolysis of mature NGF and sex-specific differences in the continuum of Alzheimer's pathology
Pentz, R., Iulita, M. F., Mikutra-Cencora, M., Ducatenzeiler, A., Bennett, D. A., & Cuello, A. C. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105150 · Cited by 31 · see citing works
Cerebrovascular disease is associated with Alzheimer’s plasma biomarker concentrations in adults with Down syndrome
Edwards, N. C., Lao, P. J., Alshikho, M. J., Ericsson, O. M., Rizvi, B. M., Petersen, M. E., O’Bryant, S. E., Aguilar, L. F., Simoes, S., Mapstone, M. E., et al. (2024) · Brain Communications · doi:10.1093/braincomms/fcae331 · Cited by 33 · see citing works
Self-citation
Amyloid Precursor Protein: A Regulatory Hub in Alzheimer's Disease
Chen, J., Chen, J.-S., Li, S., Zhang, F., Deng, J., Zeng, L., & Tan, J. (2023) · Aging and Disease · doi:10.14336/ad.2023.0308 · Cited by 30 · see citing works
Review of Artificial Intelligence Applications and Algorithms for Brain Organoid Research
Badai, J., Bu, Q., & Zhang, L. (2020) · Interdisciplinary Sciences Computational Life Sciences · doi:10.1007/s12539-020-00386-4 · Cited by 28 · see citing works
Regulation of PPARα by APP in Alzheimer disease affects the pharmacological modulation of synaptic activity
Sáez-Orellana, F., Leroy, T., Ribeiro, F., Kreis, A., Leroy, K., Lalloyer, F., Baugé, E., Staels, B., Duyckaerts, C., Brion, J.-P., et al. (2021) · JCI Insight · doi:10.1172/jci.insight.150099 · Cited by 29 · see citing works
Alzheimer's disease amyloid-β pathology in the lens of the eye
Moncaster, J. A., Moir, R. D., Burton, M. A., Chadwick, O., Minaeva, O. V., Alvarez, V. E., Ericsson, M., Clark, J. I., McKee, A. C., Tanzi, R. E., et al. (2022) · Experimental Eye Research · doi:10.1016/j.exer.2022.108974 · Cited by 30 · see citing works
Aβ and tau prions feature in the neuropathogenesis of Down syndrome
Condello, C., Maxwell, A. M., Castillo, E., Aoyagi, A., Graff, C., Ingelsson, M., Lannfelt, L., Bird, T. D., Keene, C. D., Seeley, W. W., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2212954119 · Cited by 27 · see citing works
Self-citation
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Zuliani, I., Lanzillotta, C., Tramutola, A., Francioso, A., Pagnotta, S. E., Barone, E., Marzia Perluigi, A., & Domenico, F. D. (2020) · Neurotherapeutics · doi:10.1007/s13311-020-00978-4 · Cited by 29 · see citing works
The Impact of Ageing on the CNS Immune Response in Alzheimer’s Disease
Chee, S. E. J., & Solito, E. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.738511 · Cited by 27 · see citing works
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities
Falace, A., Volpedo, G., Scala, M., Zara, F., Striano, P., & Fassio, A. (2024) · Cells · doi:10.3390/cells13171441 · Cited by 27 · see citing works
Structural magnetic resonance imaging demonstrates abnormal cortical thickness in Down syndrome: Newborns to young adults
Levman, J. E. D., MacDonald, A., Baumer, N., MacDonald, P., Stewart, N., Lim, A., Cogger, L., Shiohama, T., & Takahashi, E. (2019) · NeuroImage Clinical · doi:10.1016/j.nicl.2019.101874 · Cited by 28 · see citing works
STARD1 and NPC1 expression as pathological markers associated with astrogliosis in post-mortem brains from patients with Alzheimer's disease and Down syndrome
Arenas, F., Castro, F., Núñez, S., Gay, G., García‐Ruiz, C., & Fernández-Checa, J. C. (2020) · Aging · doi:10.18632/aging.102641 · Cited by 28 · see citing works
Blood‐based biomarkers for Down syndrome and Alzheimer's disease: A systematic review
Petersen, M. E., & O’Bryant, S. E. (2019) · Developmental Neurobiology · doi:10.1002/dneu.22714 · Cited by 27 · see citing works
Integrative multi-omic analysis reveals conserved cell-projection deficits in human Down syndrome brains
Rastogi, M., Bartolucci, M., Nanni, M., Aloisio, M., Vozzi, D., Petretto, A., Contestabile, A., & Cancedda, L. (2024) · Neuron · doi:10.1016/j.neuron.2024.05.002 · Cited by 26 · see citing works
Aging, NRF2, and TAU: A Perfect Match for Neurodegeneration?
Brackhan, M., Arribas-Blázquez, M., & Lastres‐Becker, I. (2023) · Antioxidants · doi:10.3390/antiox12081564 · Cited by 26 · see citing works
Alzheimer’s Disease in Down Syndrome: Progress in the Design and Conduct of Drug Prevention Trials
Rafii, M. S. (2020) · CNS Drugs · doi:10.1007/s40263-020-00740-6 · Cited by 25 · see citing works
Astroglial and microglial pathology in Down syndrome: Focus on Alzheimer's disease
Garcı́a, O., & Aguilar, L. F. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.987212 · Cited by 25 · see citing works
Exploitation of the multitarget role of new ferulic and gallic acid derivatives in oxidative stress-related Alzheimer's disease therapies: design, synthesis and bioevaluation
Hussain, F., Tahir, A., Jan, M. S., Fatima, N., Sadiq, A., & Rashid, U. (2024) · RSC Advances · doi:10.1039/d4ra00766b · Cited by 25 · see citing works
Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer’s-like mouse models
Kumar, S., Lemere, C. A., & Walter, J. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00959-w · Cited by 24 · see citing works
Latest advances in mechanisms of epileptic activity in Alzheimer’s disease and dementia with Lewy Bodies
Vicente, M. C., Addo-Osafo, K., & Vossel, K. A. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1277613 · Cited by 25 · see citing works

Genetics of Alzheimer's disease in adults with Down syndrome
Lee, J. H., Dang, L. T., Pang, D. I., Krinsky‐McHale, S. J., & Schupf, N. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818845-3.00001-3 · Cited by 1 · see citing works
Novel insights into Alzheimer's disease through the study of individuals with Down syndrome
Head, E., Cohen, A. D., Fortea, J., & McGlinchey, E. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71074 · Cited by 1 · see citing works
Self-citation
Alzheimer's disease in Down syndrome
Fortea, J. (2025) · Alzheimer s & Dementia · doi:10.1002/alz70856_096000
Brain Aging and Alzheimer’s Disease in Down Syndrome
Helman, A. M., Pelt, K. L. V., Schmitt, F. A., & Head, E. (2022) · doi:10.1093/oxfordhb/9780190645441.013.22 · Cited by 1 · see citing works
Self-citation
Alzheimer's Disease in Down's Syndrome: A Review
Karlinsky, H. (1986) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.1986.tb04304.x · Cited by 31 · see citing works

Authors: Lott, I. T., & Head, E.
Affiliations: University of California, Irvine (US)
University of Kentucky (US)
Corresponding author: Lott, Ira T.
ORCID: Lott, Ira T.
Head, Elizabeth
Venue: Nature Reviews Neurology
Publisher: Springer Science and Business Media LLC
Published: 2019-02-07
Volume: 15
Issue: 3
Pages: 135-147
ISSN: 1759-4758 (ISSN-L)
1759-4766
DOI: 10.1038/s41582-018-0132-6
PMC: PMC8061428
OpenAlex: W2914706199
Cited by: 383
References: 241
Citations by year: 2026: 35 · 2025: 58 · 2024: 61 · 2023: 45 · 2022: 57 · 2021: 66 · 2020: 46 · 2019: 15
FWCI: 7.68
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Neurology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: National Institutes of Health (UL1TR001414)
National Institute on Aging (P50AG016573, U01AG051412, U19AG068054, U24AG021886)
National Center for Advancing Translational Sciences
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD064993)
Topics: Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords: Down syndrome, Alzheimer's disease, dementia, amyloid precursor protein, APP overexpression, chromosome 21, amyloid-beta deposition, epigenetic factors, disease progression, biomarkers, genetic risk profiles, neuropathology
MeSH terms: Alzheimer Disease, Down Syndrome, Humans

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Dementia in Down syndrome: unique insights for Alzheimer disease research

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