| Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. | |
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MedLine Citation:
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PMID: 19794313 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-associated tremor/ataxia syndrome is a late adult onset neurodegenerative disorder that affects individuals who carry a premutation CGG repeat expansion (55-200 CGG repeats) in the 5' untranslated portion of the fragile X mental retardation 1 (FMR1) gene. Affected individuals display cognitive decline, progressive intention tremor, gait ataxia, neuropathy, psychiatric symptoms, and parkinsonism; the severity of both clinical and neuropathological phenotypes is positively correlated with the extent of the CGG expansion. Overexpression of the expanded CGG repeat messenger RNA results in a direct gain-of-function cellular toxicity that is believed to form the pathogenic basis for fragile X-associated tremor/ataxia syndrome. This mechanism is entirely different from the mechanism giving rise to fragile X syndrome, which is due to transcriptional silencing and consequent loss of FMR1 protein. Much of the research in the field has focused on understanding the link between the pathogenic FMR1 messenger RNA and the potential proteins that interact with it. |
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Authors:
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Christopher Raske; Paul J Hagerman |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review |
Journal Detail:
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Title: Journal of investigative medicine : the official publication of the American Federation for Clinical Research Volume: 57 ISSN: 1708-8267 ISO Abbreviation: J. Investig. Med. Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-12-02 Completed Date: 2011-08-05 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 9501229 Medline TA: J Investig Med Country: Canada |
Other Details:
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Languages: eng Pagination: 825-9 Citation Subset: IM |
Affiliation:
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Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA 95616, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Ataxia / complications, genetics*, metabolism* Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / complications, genetics*, metabolism* Humans Syndrome Tremor / complications, genetics*, metabolism* Trinucleotide Repeat Expansion / genetics |
| Grant Support | |
ID/Acronym/Agency:
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R01 AG024488-05/AG/NIA NIH HHS; R01 HD040661-01A1/HD/NICHD NIH HHS; R01 HD40661/HD/NICHD NIH HHS; R13 RR023236/RR/NCRR NIH HHS; R13 RR023236-03/RR/NCRR NIH HHS; RL1 AG032119-02/AG/NIA NIH HHS; RL1 AG32119/AG/NIA NIH HHS; UL1 DE019583-02/DE/NIDCR NIH HHS; UL1 DE19583/DE/NIDCR NIH HHS |
| Chemical | |
Reg. No./Substance:
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139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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