| Aging in individuals with the FMR1 mutation. | |
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MedLine Citation:
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PMID: 15000674 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia manifested by balance problems, frequent falling, and Parkinsonian symptoms, such as masked facies, intermittent resting tremor, and mild rigidity. This finding has been termed the fragile X-associated tremor/ataxia syndrome (FXTAS) and has brought focus to the aging process in individuals with the FMR1 mutation. The premutation is associated with elevated messenger RNA levels leading to the formation of intranuclear inclusions in neurons and astrocytes associated with FXTAS. This review is a summary of our experience with FXTAS in male carriers of the premutation. |
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Authors:
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S Jacquemont; F Farzin; D Hall; M Leehey; F Tassone; L Gane; L Zhang; J Grigsby; T Jardini; F Lewin; E Berry-Kravis; P J Hagerman; R J Hagerman |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of mental retardation : AJMR Volume: 109 ISSN: 0895-8017 ISO Abbreviation: Am J Ment Retard Publication Date: 2004 Mar |
Date Detail:
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Created Date: 2004-03-05 Completed Date: 2004-07-22 Revised Date: 2012-01-04 |
Medline Journal Info:
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Nlm Unique ID: 8800463 Medline TA: Am J Ment Retard Country: United States |
Other Details:
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Languages: eng Pagination: 154-64 Citation Subset: IM |
Affiliation:
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M.I.N.D. Institute, University of California, Davis, Medical Center, Sacremento 95817, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Aging / physiology* Brain / pathology Cognition Disorders / epidemiology Fragile X Mental Retardation Protein Fragile X Syndrome / epidemiology, genetics* Genetic Counseling Health Status Humans Magnetic Resonance Imaging Male Middle Aged Nerve Tissue Proteins / genetics* Point Mutation / genetics* RNA-Binding Proteins* |
| Grant Support | |
ID/Acronym/Agency:
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R01 HD036071-11/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 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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