The DOI matches its Crossref record; 344 of the 344 references it cites were found in a registry or an index.
Communication breaks-Down: From neurodevelopment defects to cognitive disabilities in Down syndrome
Abstract
Down syndrome (DS) is the leading cause of genetically-defined intellectual disability and congenital birth defects. Despite being one of the first genetic diseases identified, only recently, thanks to the phenotypic analysis of DS mouse genetic models, we have begun to understand how trisomy may impact cognitive function. Cognitive disabilities in DS appear to result mainly from two pathological processes: neurogenesis impairment and Alzheimer-like degeneration. In DS brain, suboptimal network architecture and altered synaptic communication arising from neurodevelopmental impairment are key determinants of cognitive defects. Hypocellularity and hypoplasia start at early developmental stages and likely depend upon impaired proliferation of neuronal precursors, resulting in reduction of numbers of neurons and synaptic contacts. The impairment of neuronal precursor proliferation extends to adult neurogenesis and may affect learning and memory. Neurodegenerative mechanisms also contribute to DS cognitive impairment. Early onset Alzheimer disease occurs with extremely high incidence in DS patients and is causally-related to overexpression of beta-amyloid precursor protein (betaAPP), which is one of the triplicated genes in DS. In this review, we will survey the available findings on neurodevelopmental and neurodegenerative changes occurring in DS throughout life. Moreover, we will discuss the potential mechanisms by which defects in neurogenesis and neurodegenerative processes lead to altered formation of neural circuits and impair cognitive function, in connection with findings on pharmacological treatments of potential benefit for DS.
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“Cognitive abilities are affected due to a developmental delay including the maturation of brain areas such as the PFC [293].”
From Development of prefrontal cortex (2022) · cites this paper as [293]
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Development of prefrontal cortex
Kolk, S. M., & Rakic, P. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01137-9 · Cited by 378
“Cognitive abilities are affected due to a developmental delay including the maturation of brain areas such as the PFC [293].”
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“For example, childrenwithDown syndrome show decreased proliferation of neuronal progenitor cells during gestation, decreased mature neuronal numbers overall, decreased dendritic spine density, changes in LTP and LTD, and early-onset neurodegeneration when compared with typically developing children [129–131].”
BackgroundTargeting mTOR to reduce Alzheimer-related cognitive decline: from current hits to future therapies.
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Metadata
- Authors
- Contestabile, A., Benfenati, F., & Gasparini, L.
- Affiliations
- Italian Institute of Technology (IT)
- Corresponding author
- Contestabile, Andrea
- Gasparini, Laura
- Venue
- Progress in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2010-05
- Volume
- 91
- Issue
- 1
- Pages
- 1-22
- ISSN
- 0301-0082 (ISSN-L)
- OpenAlex
- W2084697692
- Cited by
- 134
- References
- 344
- Citations by year
- 2025: 6 · 2024: 6 · 2023: 5 · 2022: 5 · 2021: 12 · 2020: 9 · 2019: 6 · 2018: 3 · 2017: 7 · 2016: 13 · 2015: 12 · 2014: 15 · 2013: 8 · 2012: 8
- FWCI
- 1.61
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Progress in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Down syndrome, intellectual disability, neurodevelopmental impairment, neurogenesis, adult neurogenesis, neural progenitor proliferation, early-onset Alzheimer's disease, amyloid precursor protein, synaptic transmission, neural circuit formation, cognitive impairment, learning and memory, pharmacotherapy
- MeSH terms
- Animals, Brain, Chromosome Mapping, Cognition Disorders, Disease Models, Animal, Down Syndrome, Humans, Intellectual Disability, Trisomy, Neurogenesis
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