| Fragile X-associated tremor/ataxia syndrome (FXTAS). | |
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MedLine Citation:
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PMID: 14994285 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, and autonomic dysfunction. In excess of one-third of male premutation carriers over 50 years of age develop the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS also represents a new form of inclusion disease, with eosinophilic intranuclear inclusions found throughout the brain in both neurons and astrocytes. Because FXTAS appears to be relatively specific to male premutation carriers, who are known to possess elevated levels of FMR1 mRNA, the neuropathology may arise as a consequence of a toxic gain-of-function of the mRNA itself, although this proposal requires additional direct testing. One of the critical needs at present is a better estimate for the prevalence of this disorder, because FXTAS is likely to be underdiagnosed in the adult movement disorders clinics. |
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Authors:
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Paul J Hagerman; Randi J Hagerman |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: Mental retardation and developmental disabilities research reviews Volume: 10 ISSN: 1080-4013 ISO Abbreviation: Ment Retard Dev Disabil Res Rev Publication Date: 2004 |
Date Detail:
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Created Date: 2004-03-02 Completed Date: 2004-07-21 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9517974 Medline TA: Ment Retard Dev Disabil Res Rev Country: United States |
Other Details:
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Languages: eng Pagination: 25-30 Citation Subset: IM |
Copyright Information:
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Copyright 2004 Wiley-Liss, Inc. |
Affiliation:
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Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA. pjhagerman@ucdavis.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aging Ataxia / genetics*, pathology Female Fragile X Mental Retardation Protein Fragile X Syndrome / genetics* Heterozygote* Humans Magnetic Resonance Imaging Male Nerve Tissue Proteins / genetics RNA, Messenger / analysis RNA-Binding Proteins* Syndrome Tremor / genetics*, pathology Trinucleotide Repeats |
| Grant Support | |
ID/Acronym/Agency:
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HD36071/HD/NICHD NIH HHS; HD40661/HD/NICHD NIH HHS; NS43532/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/RNA-Binding Proteins; 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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