Cited by 134Down syndrome and intellectual disability researchAlzheimer's disease research and treatmentsGenetics and Neurodevelopmental Disorders

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Communication breaks-Down: From neurodevelopment defects to cognitive disabilities in Down syndrome

Contestabile, Andrea, Benfenati, Fabio, Gasparini, Laura·2010·Progress in Neurobiology

DOI 10.1016/j.pneurobio.2010.01.003

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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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Authors: Contestabile, A., Benfenati, F., & Gasparini, L.
Affiliations: Italian Institute of Technology (IT)
Corresponding author: Contestabile, Andrea
Gasparini, Laura
ORCID: Contestabile, Andrea
Benfenati, Fabio
Gasparini, Laura
Venue: Progress in Neurobiology
Publisher: Elsevier BV
Published: 2010-05
Volume: 91
Issue: 1
Pages: 1-22
ISSN: 0301-0082 (ISSN-L)
DOI: 10.1016/j.pneurobio.2010.01.003
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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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Communication breaks-Down: From neurodevelopment defects to cognitive disabilities in Down syndrome

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