| FXTAS: a progressive neurologic syndrome associated with Fragile X premutation. | |
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MedLine Citation:
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PMID: 16131424 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The FMR1 gene is involved in two different syndromes: Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X syndrome is a childhood disease and is associated with mental retardation as the main clinical characteristic, whereas FXTAS develops in men and women over 50 years of age. FXTAS represents a new form of inclusion disorder with a high prevalence in the general population. The neurologic phenotype of FXTAS includes intention tremor and ataxia. Associated features are dementia, parkinsonism, neuropathy, and autonomic dysfunction. Elevated FMR1 transcripts have been proposed as the molecular basis of the pathogenic mechanism leading to FXTAS. This review discusses recent developments in the clinical phenotype, prevalence and screening, animal models, and molecular mechanisms of RNA-based pathogenesis in FXTAS. |
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Authors:
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Rob Willemsen; Edwin Mientjes; Ben A Oostra |
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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; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: Current neurology and neuroscience reports Volume: 5 ISSN: 1528-4042 ISO Abbreviation: Curr Neurol Neurosci Rep Publication Date: 2005 Sep |
Date Detail:
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Created Date: 2005-08-31 Completed Date: 2006-01-20 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 100931790 Medline TA: Curr Neurol Neurosci Rep Country: United States |
Other Details:
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Languages: eng Pagination: 405-10 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Erasmus MC, PO Box 1738, 3000 DR, Rotterdam, The Netherlands. r.willemsen@erasmusmc.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cerebellar Ataxia
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etiology,
genetics,
metabolism Chromosomes, Human, X* Fragile X Syndrome / complications*, genetics*, metabolism Humans Magnetic Resonance Imaging / methods Models, Molecular Mutation* Tremor / etiology, genetics Ubiquitin / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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R01 HD38038/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Ubiquitin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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