Cited by 57Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchAutism Spectrum Disorder Research

Pathological plasticity in fragile X syndrome.

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Martin, Brandon S., Huntsman, Molly M.·2012·Neural Plasticity

Abstract

Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile-X syndrome (FXS), disruption in the function of a single gene,FMR1, results in a variety of neurological consequences directly related to problems with the development, maintenance, and capacity of plastic neuronal networks. In this paper, we discuss current research illustrating the mechanisms underlying plasticity deficits in FXS. These processes include synaptic, cell intrinsic, and homeostatic mechanisms both dependent on and independent of abnormal metabotropic glutamate receptor transmission. We place particular emphasis on how identified deficits may play a role in developmental critical periods to produce neuronal networks with permanently decreased capacity to dynamically respond to changes in activity central to learning, memory, and cognition in patients with FXS. Characterizing early developmental deficits in plasticity is fundamental to develop therapies that not only treat symptoms but also minimize the developmental pathology of the disease.

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  • Hallmarks of neural circuit function in FXS include hyperexcitability and plasticity defects.

    “Hallmarks of neural circuit function in FXS include hyperexcitability and plasticity defects (Martin and Huntsman, 2012).”

    From Astrocytes in fragile X syndrome (2024) · cites this paper as Martin and Huntsman, 2012

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Authors
Martin, B. S., & Huntsman, M. M.
Affiliations
Children's National (US)
Corresponding author
Huntsman, Molly M.
Venue
Neural Plasticity
Publisher
Wiley
Published
2012
Volume
2012
Pages
1-12
ISSN
  • 1687-5443 (ISSN-L)
  • 2090-5904
OpenAlex
W2096225153
Cited by
57
References
19
Citations by year
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FWCI
0.63
Type
journal article
Language
en
Open access
Locations
  • Neural Plasticity (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
National Institute of Neurological Disorders and Stroke (R01 NS053719)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
fragile X syndrome, FMR1 gene, neuroplasticity, synaptic plasticity, metabotropic glutamate receptors, homeostatic plasticity, critical developmental periods, neurodevelopmental disorders, learning and memory impairment, cognitive impairment
MeSH terms
Fragile X Syndrome, Homeostasis, Humans, Nerve Net, Neuronal Plasticity, Receptors, Glutamate, Receptors, Cannabinoid, Adaptor Proteins, Signal Transducing, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1

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 ›

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