Abstract
Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overexpression of a number of its target genes, which can cause imbalances of neurotransmission and deficits in synaptic plasticity. The use of metabotropic glutamate receptor (mGluR) blockers and gamma amino-butyric acid (GABA) agonists have been shown to be efficacious in reversing cellular and behavioral phenotypes, and restoring proper brain connectivity in the mouse and fly models. Proposed new pharmacological treatments and educational interventions are discussed in this chapter. In combination, these various targeted treatments show promising preliminary results in mitigating or even reversing the neurobiological abnormalities caused by loss of FMRP, with possible translational applications to other neurodevelopmental disorders including autism.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Animals
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Anti-Bacterial Agents / therapeutic use
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Antioxidants / therapeutic use
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Baclofen / analogs & derivatives
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Baclofen / therapeutic use
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Brain-Derived Neurotrophic Factor / metabolism
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Central Nervous System Stimulants / therapeutic use
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Clinical Trials as Topic
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Dendritic Spines / metabolism
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Donepezil
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Dopamine / metabolism
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Enzyme Inhibitors / therapeutic use
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Fragile X Mental Retardation Protein / genetics
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Fragile X Mental Retardation Protein / metabolism
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Fragile X Syndrome / drug therapy*
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Fragile X Syndrome / pathology
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Fragile X Syndrome / physiopathology
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Humans
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Indans / therapeutic use
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Lithium Compounds / therapeutic use
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Melatonin / therapeutic use
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Mice
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Mice, Knockout
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Minocycline / therapeutic use
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Nootropic Agents / therapeutic use
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Piperidines / therapeutic use
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Receptor, Metabotropic Glutamate 5
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Receptors, GABA / metabolism
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Receptors, Metabotropic Glutamate / antagonists & inhibitors
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Signal Transduction
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Vitamin E / therapeutic use
Substances
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Anti-Bacterial Agents
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Antioxidants
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Brain-Derived Neurotrophic Factor
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Central Nervous System Stimulants
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Enzyme Inhibitors
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Indans
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Lithium Compounds
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Nootropic Agents
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Piperidines
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Receptor, Metabotropic Glutamate 5
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Receptors, GABA
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Receptors, Metabotropic Glutamate
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Fragile X Mental Retardation Protein
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Vitamin E
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Donepezil
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Minocycline
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Baclofen
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Melatonin
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Dopamine
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arbaclofen placarbil