| Advances in the treatment of fragile X syndrome. | |
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MedLine Citation:
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PMID: 19117905 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here. |
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Authors:
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Randi J Hagerman; Elizabeth Berry-Kravis; Walter E Kaufmann; Michele Y Ono; Nicole Tartaglia; Ave Lachiewicz; Rebecca Kronk; Carol Delahunty; David Hessl; Jeannie Visootsak; Jonathan Picker; Louise Gane; Michael Tranfaglia |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Pediatrics Volume: 123 ISSN: 1098-4275 ISO Abbreviation: Pediatrics Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-01-01 Completed Date: 2009-02-06 Revised Date: 2010-12-03 |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: United States |
Other Details:
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Languages: eng Pagination: 378-90 Citation Subset: AIM; IM |
Affiliation:
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MIND. Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA. randi.hagerman@ucdmc.ucdavis.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Excitatory Amino Acid Antagonists / therapeutic use Fragile X Syndrome / diagnosis*, genetics, therapy* Gene Therapy / trends Humans Mutation / genetics |
| Grant Support | |
ID/Acronym/Agency:
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1KL2RR025009/RR/NCRR NIH HHS; 5K12RR017643/RR/NCRR NIH HHS; AG032115/AG/NIA NIH HHS; DE019583/DE/NIDCR NIH HHS; HD02274/HD/NICHD NIH HHS; HD036071/HD/NICHD NIH HHS; HD24061/HD/NICHD NIH HHS; MH77554/MH/NIMH NIH HHS; R01 HD036071-11/HD/NICHD NIH HHS; RL1 AG032115-02/AG/NIA NIH HHS; RR024146/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Excitatory Amino Acid Antagonists |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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