The neurobiologie consequences of down syndrome
Abstract
Trisomy of the whole or distal part of human chromosome 21 (HSA 21) (Ts21) results in Down Syndrome (DS), which is characterized in part by mental retardation and associated neurological abnormalities. Structural abnormalities observed frequently include reduced brain weight, decreased number and depth of sulci in the cerebral cortices, neuronal heterotopias, and reduced numbers of specific populations of neurons, such as granule cells, in the cerebral cortices. Abnormalities in the structure of cells, primarily of the dendrites, are observed in portions of the neuraxis, such as the hippocampus, cerebellum, and cerebral cortices. Functional abnormalities in membrane properties in peripheral structures and in neurotransmitter enzyme systems in both peripheral and central structures are observed also. Brains of DS individuals over the age of 40 exhibit the characteristic neuropathologic and neurochemical stigmata of Alzheimer's disease (AD). The cholinergic and noradrenergic systems appear to be particularly vulnerable. To elucidate the mechanisms responsible for these abnormalities, identification of the genes located in the distal part of HSA 21 and the systematic study of animal model systems with close genetic homology are essential.
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The temporal and frontal lobes, neural correlates of cognitive domains affected in Down syndrome, are smaller in individuals with Down syndrome than in healthy controls.
“The neural correlates of these cognitive domains, namely the temporal and frontal lobes, are smaller in individuals with DS than in healthy controls2–4.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [3]
Cites
Blessed, G., Tomlinson, B. E., & Roth, M. (1968) · British Journal of Psychiatry · doi:10.1192/bjp.114.512.797 · Cited by 4,117 · see citing works
Alzheimer's Disease and Senile Dementia: Loss of Neurons in the Basal Forebrain
Whitehouse, P., Price, D., Struble, R., Clark, A., Coyle, J., & DeLong, M. R. (1982) · Science · doi:10.1126/science.7058341 · Cited by 3,627 · see citing works
Self-citationMesulam, M. ‐., Mufson, E. J., Levey, A. I., & Wainer, B. H. (1983) · Journal of Comparative Neurology · doi:10.1002/cne.902140206 · Cited by 1,962 · see citing works
Alzheimer's Neurofibrillary Changes: A Topographic Study
HIRANO, A. (1962) · Archives of Neurology · doi:10.1001/archneur.1962.04210030065009 · Cited by 402 · see citing works
Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study
Marin-Padilla, M. (1972) · Brain Research · doi:10.1016/0006-8993(72)90324-1 · Cited by 290 · see citing works
Some Speculations about Prions, Amyloid, and Alzheimer's Disease
Prusiner, S. B. (1984) · New England Journal of Medicine · doi:10.1056/nejm198403083101021 · Cited by 213 · see citing works
Down's syndrome: Is there a decreased population of neurons?
Ross, M. H., Galaburda, A. M., & Kemper, T. L. (1984) · Neurology · doi:10.1212/wnl.34.7.909 · Cited by 191 · see citing works
Alzheimer Degeneration in Down Syndrome: Electrophysiologic Alterations and Histopathologic Findings
Crapper, D. R. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510074006 · Cited by 93 · see citing works
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Oxidative stress and mitochondrial dysfunction in Alzheimer’s disease
Wang, X., Wang, W., Li, L., Perry, G., Lee, H.-G., & Zhu, X. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2013.10.015 · Cited by 1,357 · see citing works
Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro
Busciglio, J., & Yankner, B. A. (1995) · Nature · doi:10.1038/378776a0 · Cited by 741 · see citing works
Neuroanatomy of Down’s Syndrome: A High-Resolution MRI Study
Pinter, J. D., Eliez, S., Schmitt, J. E., Capone, G. T., & Reiss, A. L. (2001) · American Journal of Psychiatry · doi:10.1176/appi.ajp.158.10.1659 · Cited by 452 · see citing works
Neurological phenotypes for Down syndrome across the life span
Lott, I. T. (2012) · Progress in Brain Research · doi:10.1016/b978-0-444-54299-1.00006-6 · Cited by 225 · see citing works
MNB/DYRK1A as a multiple regulator of neuronal development
Tejedor, F. J., & Hämmerle, B. (2011) · The FEBS Journal · doi:10.1111/j.1742-4658.2010.07954.x · Cited by 214 · see citing works
Alzheimer disease and Down syndrome: factors in pathogenesis
Lott, I. T., & Head, E. (2005) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2004.08.005 · Cited by 212 · see citing works
Tang, X.-Y., Xu, L., Wang, J., Hong, Y., Wang, Y., Zhu, Q., Wang, D., Zhang, X.-Y., Liu, C.-Y., Fang, K.-H., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci135763 · Cited by 143 · see citing works
F2-isoprostanes as indices of lipid peroxidation in inflammatory diseases
Praticò, D., Rokach, J., Lawson, J., & FitzGerald, G. A. (2004) · Chemistry and Physics of Lipids · doi:10.1016/j.chemphyslip.2003.09.012 · Cited by 120 · see citing works
Aziz, N. M., Guedj, F., Pennings, J. L. A., Olmos-Serrano, J. L., Siegel, A., Haydar, T. F., & Bianchi, D. W. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031013 · Cited by 118 · see citing works
ets-2 Promotes the Activation of a Mitochondrial Death Pathway in Down's Syndrome Neurons
Helguera, P., Pelsman, A., Pigino, G., Wolvetang, E., Head, E., & Busciglio, J. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.5107-04.2005 · Cited by 88 · see citing works
Complement in Alzheimer's disease: opportunities for modulating protective and pathogenic events
Tenner, A. (2001) · Neurobiology of Aging · doi:10.1016/s0197-4580(01)00301-3 · Cited by 81 · see citing works
The impact of base excision DNA repair in age-related neurodegenerative diseases
Leandro, G. S., Sykora, P., & Bohr, V. A. (2015) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2014.12.011 · Cited by 72 · see citing works
Astrocytes in Down Syndrome Across the Lifespan
Ponroy Bally, B., & Murai, K. K. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.702685 · Cited by 35 · see citing works
Consequences of trisomy 21 for brain development in Down syndrome
Russo, M. L., Sousa, A. M. M., & Bhattacharyya, A. (2024) · Nature Reviews Neuroscience · doi:10.1038/s41583-024-00866-2 · Cited by 28 · see citing works
Postnatal Cytoarchitecture and neurochemical hippocampal dysfunction in Down Syndrome
Moreno, D. G., Utagawa, E. C., Arva, N. C., Schafernak, K. T., Mufson, E. J., & Perez, S. E. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10153414 · Cited by 7 · see citing works
- Authors
- Coyle, J. T., Oster-Granite, M. L., & Gearhart, J. D.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Coyle, J.T.
- ORCID
- Coyle, J.T.
- Venue
- Brain Research Bulletin
- Publisher
- Elsevier BV
- Published
- 1986-06
- Volume
- 16
- Issue
- 6
- Pages
- 773-787
- ISSN
- 0361-9230 (ISSN-L)
- OpenAlex
- W1991528700
- Cited by
- 248
- References
- 8
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 7 · 2023: 3 · 2022: 2 · 2021: 7 · 2020: 2 · 2019: 6 · 2018: 9 · 2017: 7 · 2016: 1 · 2015: 3 · 2014: 4 · 2013: 4 · 2012: 7
- FWCI
- 4.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain Research Bulletin (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (MH 26654)
- National Institute of Neurological Disorders and Stroke (NS-18414)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD16303)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Down syndrome, chromosome 21, intellectual disability, structural brain abnormalities, neuronal heterotopia, granule cells, dendritic abnormalities, hippocampus, cerebellum, membrane properties, Alzheimer's disease, cholinergic system, noradrenergic system, animal models, neurobiology
- MeSH terms
- Aging, Alzheimer Disease, Autonomic Nervous System, Brain, Cell Membrane, Down Syndrome, Humans, Neurotransmitter Agents
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