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

The DOI matches its Crossref record; 240 of the 241 references it cites were found in a registry or an index.

Dementia in Down syndrome: unique insights for Alzheimer disease research

Open access

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

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

Open this paper in CoChat — free account

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1038/s41582-018-0132-6

Cites

240 of 240 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
Calcium's Role in Mechanotransduction during Muscle Development
Damm, T. B., & Egli, M. (2014) · Cellular Physiology and Biochemistry · doi:10.1159/000356667 · Cited by 14,552
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
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
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
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
Inflammation and Alzheimer’s disease
Akiyama, H. (2000) · Neurobiology of Aging · doi:10.1016/s0197-4580(00)00124-x · Cited by 4,514
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
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
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
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
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
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
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
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 1,284
Cerebral amyloid angiopathy. A critical review.
Vinters, H. V. (1987) · Stroke · doi:10.1161/01.str.18.2.311 · Cited by 1,070
[ 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
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 895
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
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
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
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 705
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 656
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
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
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
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
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
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
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
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 512
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 488
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 487
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
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
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
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
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
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
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
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 351
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
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 344
Down syndrome and the complexity of genome dosage imbalance
Antonarakis, S. E. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.154 · Cited by 314
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
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
Self-citation
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 289
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
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
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
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
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
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
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
Atypical aging in down syndrome
Zigman, W. B. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1128 · Cited by 262
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
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
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
Self-citation
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 242
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
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
EARLY SENILE DEMENTIA IN MONGOLOID IDIOCY
Jervis, G. A. (1948) · American Journal of Psychiatry · doi:10.1176/ajp.105.2.102 · Cited by 227
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 216
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 214
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
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
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
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 206
Untitled work
(1990) · PubMed · Cited by 201
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 194
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
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
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 190
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
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 188
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 188
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
Down syndrome, Alzheimer’s disease and seizures
Menéndez, M. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.07.008 · Cited by 186
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 185
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
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 183
Down's syndrome: an atheroma-free model?
Murdoch, J. C., Rodger, J. C., Rao, S. S., Fletcher, C. D., & Dunnigan, M. G. (1977) · BMJ · doi:10.1136/bmj.2.6081.226 · Cited by 179
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 177
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
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 176
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 176
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
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
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
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
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 156
Self-citation
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
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
The discovery of Alzheimer‐causing mutations in the APP gene and the formulation of the “amyloid cascade hypothesis”
Hardy, J. (2017) · The FEBS Journal · doi:10.1111/febs.14004 · Cited by 153
Neuropathological Changes in Down's Syndrome Hippocampal Formation
Hyman, B. T. (1995) · Archives of Neurology · doi:10.1001/archneur.1995.00540280059019 · Cited by 147
Untitled work
(1996) · PubMed · Cited by 140
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 137
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 135
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 134
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
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 134
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 132
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 129
Self-citation
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
Self-citation
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 126
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 122
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 119
Association between the interleukin-1β polymorphisms and Alzheimer's disease: A systematic review and meta-analysis
Bona, D. D., Plaia, A., Vasto, S., Cavallone, L., Lescai, F., Franceschi, C., Licastro, F., Colonna‐Romano, G., Lio, D., Candore, G., et al. (2008) · Brain Research Reviews · doi:10.1016/j.brainresrev.2008.07.003 · Cited by 119
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 117
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 117
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 116
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 115
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
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
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 114
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 114
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
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
Self-citation
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
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
Self-citation
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 104
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
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 103
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
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
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 99
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 99
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
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
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
Self-citation
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
Self-citation
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 95
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
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 93
Self-citation
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 91
Self-citation
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 91
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
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 90
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
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 89
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
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 86
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
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
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 84
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
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
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
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 77
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
Microglial pathology in Down syndrome
Xue, Q., & Streit, W. J. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0864-5 · Cited by 75
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
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
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
Florbetapir PET, FDG PET, and MRI in Down syndrome individuals with and without Alzheimer's dementia
Sabbagh, M. N., Chen, K., Rogers, J., Fleisher, A., Liebsack, C., Bandy, D., Belden, C. M., Protas, H. D., Thiyyagura, P., Liu, X., et al. (2015) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2015.01.006 · Cited by 72
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
Neuroimaging of individuals with Down’s syndrome at-risk for dementia: Evidence for possible compensatory events
Haier, R. J., Head, K., Head, E., & Lott, I. T. (2007) · NeuroImage · doi:10.1016/j.neuroimage.2007.09.064 · Cited by 71
Self-citation
Characteristics of Adults with Down Syndrome: Prevalence of Age-Related Conditions
Carfì, A., Antocicco, M., Brandi, V., Cipriani, C., Fiore, F., Mascia, D., Settanni, S., Vetrano, D. L., Bernabei, R., & Onder, G. (2014) · Frontiers in Medicine · doi:10.3389/fmed.2014.00051 · Cited by 70
The NGF Metabolic Pathway in the CNS and its Dysregulation in Down Syndrome and Alzheimer's Disease
Iulita, M. F., & Cuello, A. C. (2015) · Current Alzheimer Research · doi:10.2174/1567205012666150921100030 · Cited by 69
Enhanced Oscillatory Activity in the Hippocampal–Prefrontal Network Is Related to Short-Term Memory Function after Early-Life Seizures
Kleen, J. K., Wu, E. X., Holmes, G. L., Scott, R. C., & Lenck-Santini, P.-P. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.2196-11.2011 · Cited by 68
Age-Related Neurodegeneration and Memory Loss in Down Syndrome
Lockrow, J. P., Fortress, A. M., & Granholm, A. (2012) · Current Gerontology and Geriatrics Research · doi:10.1155/2012/463909 · Cited by 68
BACE2 Expression Increases in Human Neurodegenerative Disease
Holler, C. J., Webb, R. L., Laux, A. L., Beckett, T. L., Niedowicz, D. M., Ahmed, R. R., Liu, Y., Simmons, C. R., Dowling, A. L. S., Spinelli, A., et al. (2011) · American Journal Of Pathology · doi:10.1016/j.ajpath.2011.09.034 · Cited by 66
Self-citation
Trans-Acting Epigenetic Effects of Chromosomal Aneuploidies: Lessons From Down Syndrome and Mouse Models
Do, C., Xing, Z., Yu, Y. E., & Tycko, B. (2016) · Epigenomics · doi:10.2217/epi-2016-0138 · Cited by 66
Dysregulation of neurotrophin signaling in the pathogenesis of Alzheimer disease and of Alzheimer disease in Down syndrome
Chen, X., Sawa, M., & Mobley, W. C. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.10.341 · Cited by 66
Using Positron Emission Tomography and Carbon 11–Labeled Pittsburgh Compound B to Image Brain Fibrillar β-Amyloid in Adults With Down Syndrome
Landt, J. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.36 · Cited by 65
Genetics: Finding risk factors
Eisenstein, M. S. (2011) · Nature · doi:10.1038/475s20a · Cited by 64
Synaptophysin and Synaptojanin-1 in Down Syndrome are Differentially Affected by Alzheimer's Disease
Martin, S. B., Dowling, A. L. S., Lianekhammy, J., Lott, I. T., Doran, E., Murphy, M. P., Beckett, T. L., Schmitt, F. A., & Head, E. (2014) · Journal of Alzheimer's Disease · doi:10.3233/jad-140795 · Cited by 64
Self-citation
Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome
Iughetti, L., Predieri, B., Bruzzi, P., Predieri, F., Vellani, G., Madeo, S. F., Garavelli, L., Biagioni, O., Bedogni, G., & Bozzola, M. (2014) · Hormone Research in Paediatrics · doi:10.1159/000362450 · Cited by 62
Molecular background of progressive myoclonus epilepsy
Lehesjoki, A. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg338 · Cited by 61
Dissociation of Down syndrome and Alzheimer's disease effects with imaging
Matthews, D. C., Lukic, A. S., Andrews, R. D., Marendic, B., Brewer, J. B., Rissman, R. A., Mosconi, L., Strother, S. C., Wernick, M. N., Mobley, W. C., et al. (2016) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1016/j.trci.2016.02.004 · Cited by 59
Alzheimer’s disease in people with Down’s syndrome: the prospects for and the challenges of developing preventative treatments
Castro, P., Zaman, S. H., & Holland, A. J. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8308-8 · Cited by 59
Molecular Dating of Senile Plaques in the Brains of Individuals with Down Syndrome and in Aged Dogs
Azizeh, B. Y., Head, E., Ibrahim, M. A., Torp, R., Tenner, A. J., Kim, R. C., Lott, I. T., & Cotman, C. W. (2000) · Experimental Neurology · doi:10.1006/exnr.2000.7359 · Cited by 58
Self-citation
Proteolytic Cleavage of Apolipoprotein E4 as the Keystone for the Heightened Risk Associated with Alzheimer’s Disease
Rohn, T. T. (2013) · International Journal of Molecular Sciences · doi:10.3390/ijms140714908 · Cited by 58
RCAN1 (DSCR1 or Adapt78)* stimulates expression of GSK‐3β
Ermak, G., Harris, C. D., Battocchio, D., & Davies, K. J. A. (2006) · FEBS Journal · doi:10.1111/j.1742-4658.2006.05217.x · Cited by 58
Cerebrovascular contributions to aging and Alzheimer's disease in Down syndrome
Wilcock, D. M., Schmitt, F. A., & Head, E. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.11.007 · Cited by 56
Self-citation
Disturbance of redox homeostasis in Down Syndrome: Role of iron dysmetabolism
Barone, E., Arena, A., Head, E., Butterfield, D. A., & Marzia Perluigi, A. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.07.009 · Cited by 55
Self-citation
Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease
Potter, H., Granic, A., & Caneus, J. (2015) · Current Alzheimer Research · doi:10.2174/156720501301151207100616 · Cited by 54
Endocrine Autoimmunity in Down's Syndrome
Guaraldi, F., Giaccherino, R. R., Lanfranco, F., Motta, G., Gori, D., Arvat, E., Ghigo, E., & Giordano, R. (2017) · Frontiers of hormone research · doi:10.1159/000452912 · Cited by 53
Diffuse Plaques in the Cerebellum and Corpus Striatum in Down's Syndrome Contain Amyloid β Protein (Aβ) only in the Form of Aβ42(43)
Mann, D. M. A., & Iwatsubo, T. (1996) · Neurodegeneration · doi:10.1006/neur.1996.0017 · Cited by 52
A mouse model of Alzheimer's disease displays increased susceptibility to kindling and seizure‐associated death
Chan, J., Jones, N. C., Bush, A. I., O'Brien, T. J., & Kwan, P. (2015) · Epilepsia · doi:10.1111/epi.12993 · Cited by 52
Positron Emission Tomography and Neuropathologic Estimates of Fibrillar Amyloid-β in a Patient With Down Syndrome and Alzheimer Disease
Sabbagh, M. N. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.535 · Cited by 52
Adolescents and young adults with down syndrome presenting to a medical clinic with depression: Co‐morbid obstructive sleep apnea
Capone, G. T., Aidikoff, J. M., Taylor, K., & Rykiel, N. A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36052 · Cited by 52
Poor Sleep as a Precursor to Cognitive Decline in Down Syndrome : A Hypothesis
Fernandez, F. (2013) · Journal of Alzheimer’s Disease & Parkinsonism · doi:10.4172/2161-0460.1000124 · Cited by 51
Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer’s Disease
Lee, N., Yang, S., Chieh, J.-J., Huang, P.-T., Chang, L.-M., Chiu, Y., Huang, A.-C., Chien, Y., Hwu, W., & Chiu, M. (2017) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2016.00316 · Cited by 50
Effect of galantamine on verbal repetition in AD
Rockwood, K. J., Fay, S., Jarrett, P. G., & Asp, E. (2007) · Neurology · doi:10.1212/01.wnl.0000258661.61577.b7 · Cited by 50
Periodontal disease's contribution to Alzheimer's disease progression in Down syndrome
Kamer, A. R., Fortea, J., Videla, S., Mayoral, A., Janal, M. N., Carmona‐Iragui, M., Benejam, B., Craig, R. G., Saxena, D. B., Corby, P. M. A., et al. (2016) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2016.01.001 · Cited by 49
Down syndrome, beta-amyloid and neuroimaging
Head, E., Helman, A. M., Powell, D. K., & Schmitt, F. A. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.09.013 · Cited by 49
Self-citation
Increased levels of plasma total tau in adult Down syndrome
Kasai, T., Tatebe, H., Kondo, M., Ishii, R., Ohmichi, T., Yeung, W. T. E., Morimoto, M., Chiyonobu, T., Terada, N., Allsop, D., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0188802 · Cited by 48
Noradrenergic System in Down Syndrome and Alzheimer's Disease A Target for Therapy
Phillips, C., Fahimi, A., Das, D., Mojabi, F. S., Ponnusamy, R., & Salehi, A. (2015) · Current Alzheimer Research · doi:10.2174/1567205012666150921095924 · Cited by 48
Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome
Jones, E. L., Mok, K., Hanney, M., Harold, D., Sims, R., Williams, J., & Ballard, C. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.03.018 · Cited by 47
Some morphometric observations on the brains of patients with Down's syndrome: their relationship to age and dementia
Mann, D. M. A., Royston, M. C., & Ravindra, C. (1990) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(90)90152-d · Cited by 46
EFFECT OF GALANTAMINE ON VERBAL REPETITION IN AD: A SECONDARY ANALYSIS OF THE VISTA TRIAL
Wong, V. S. S. (2007) · Neurology · doi:10.1212/01.wnl.0000281354.09820.03 · Cited by 45
Pharmacological interventions for cognitive decline in people with Down syndrome
Livingstone, N., Hanratty, J., McShane, R. H., & Macdonald, G. M. (2015) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd011546.pub2 · Cited by 44
Identification of an amino-terminal fragment of apolipoprotein E4 that localizes to neurofibrillary tangles of the Alzheimer's disease brain
Rohn, T. T., Catlin, L. W., Coonse, K., & Habig, J. W. (2012) · Brain Research · doi:10.1016/j.brainres.2012.08.003 · Cited by 44
Gait dyspraxia as a clinical marker of cognitive decline in Down syndrome: A review of theory and proposed mechanisms
Anderson-Mooney, A. J., Schmitt, F. A., Head, E., Lott, I. T., & Heilman, K. M. (2016) · Brain and Cognition · doi:10.1016/j.bandc.2016.02.007 · Cited by 44
Self-citation
Building an adaptive brain across development: targets for neurorehabilitation must begin in infancy
Edgin, J. O., Clark, C. A. C., Massand, E., & Karmiloff‐Smith, A. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00232 · Cited by 44
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
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
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 42
Contaminated and Unusual Food Combinations: What Do People With Prader-Willi Syndrome Choose?
Dykens, E. M. (2000) · Mental Retardation · doi:10.1352/0047-6765(2000)038 · Cited by 42

Research works printed but not linked: 1

Bertrand, I. & Koffas, D. Cas d’idioti mongolienne adulte avec nombreuses plaques senile et concretions calcaires pallidales. Rev. Neurol. 78, 338 (1946).

Sorted by citations

Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup
Jack, C. R., Andrews, J. S., Beach, T. G., Buracchio, T., Dunn, B., Graf, A., Hansson, O., Ho, C., Jagust, W., McDade, E., et al. (2024) · Alzheimer's & Dementia · doi:10.1002/alz.13859 · Cited by 2,803
Down syndrome
Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., Bianchi, D. W., Sherman, S. L., & Reeves, R. H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0143-7 · Cited by 964
Alzheimer’s disease: insights into pathology, molecular mechanisms, and therapy
Zheng, Q., & Wang, X. (2024) · Protein & Cell · doi:10.1093/procel/pwae026 · Cited by 483
Alzheimer's disease associated with Down syndrome: a genetic form of dementia
Fortea, J., Zaman, S. H., Hartley, S., Rafii, M. S., Head, E., & Carmona-Iragui, M. (2021) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00245-3 · Cited by 357
Self-citation
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study
Fortea, J., Vilaplana, E., Carmona-Iragui, M., Benejam, B., Videla, L., Barroeta, I., Fernández, S., Altuna, M., Pegueroles, J., Montal, V., et al. (2020) · The Lancet · doi:10.1016/s0140-6736(20)30689-9 · Cited by 340

See all 394

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
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › 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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Dementia in Down syndrome: unique insights for Alzheimer disease research

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks