| Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. | |
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MedLine Citation:
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PMID: 17618523 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55-200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under-diagnosed, FXTAS is likely to be one of the most common single-gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. |
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Authors:
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Elizabeth Berry-Kravis; Liane Abrams; Sarah M Coffey; Deborah A Hall; Claudia Greco; Louise W Gane; Jim Grigsby; James A Bourgeois; Brenda Finucane; Sebastien Jacquemont; James A Brunberg; Lin Zhang; Janet Lin; Flora Tassone; Paul J Hagerman; Randi J Hagerman; Maureen A Leehey |
Related Documents
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11480913 - The female and the fragile x reviewed. 19794313 - Molecular pathogenesis of fragile x-associated tremor/ataxia syndrome. 1319193 - Genetic aspects of the klippel-trenaunay syndrome. |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Movement disorders : official journal of the Movement Disorder Society Volume: 22 ISSN: 0885-3185 ISO Abbreviation: Mov. Disord. Publication Date: 2007 Oct |
Date Detail:
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Created Date: 2007-11-05 Completed Date: 2008-02-01 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 2018-30, quiz 2140 Citation Subset: IM |
Copyright Information:
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(c) 2007 Movement Disorder Society. |
Affiliation:
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Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA. Elizabeth_m_berry-kravis@rush.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Ataxia
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genetics*,
pathology,
physiopathology Family Health Female Fragile X Syndrome / genetics*, pathology, physiopathology Genetic Testing Guidelines as Topic / standards* Humans Magnetic Resonance Imaging / methods Male Sex Factors Tremor / genetics*, pathology, physiopathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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