| Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. | |
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MedLine Citation:
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PMID: 17194594 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly discovered late-onset neurodegenerative disorder caused by a premutation in the FMR1 X-linked gene. We present examples of a discrepancy between obvious brain changes observed on MRI, and minimal clinical neurological manifestations in three older carriers of this premutation. This discrepancy occurred in three of nine carriers ascertained in an unbiased manner. If the systematic follow-up studies of adult carriers confirm this trend, this will have an impact on early diagnosis of neurological involvement and possible prevention. If MRI changes precede clinical manifestation of FXTAS this may explain the low detection rate of fragile X carriers among patients with neurological syndromes associated with tremor/ataxia. |
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Authors:
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D Z Loesch; L Litewka; A Churchyard; E Gould; F Tassone; M Cook |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2006-12-27 |
Journal Detail:
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Title: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Volume: 14 ISSN: 0967-5868 ISO Abbreviation: J Clin Neurosci Publication Date: 2007 Mar |
Date Detail:
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Created Date: 2007-01-29 Completed Date: 2007-04-18 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 9433352 Medline TA: J Clin Neurosci Country: Scotland |
Other Details:
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Languages: eng Pagination: 245-8 Citation Subset: IM |
Affiliation:
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School of Psychological Science, La Trobe University, Bundoora, Melbourne, Victoria 3086, Australia. d.loesch@latrobe.edu.au |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aged Ataxia / genetics, pathology Cerebellum / pathology Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics*, pathology* Heterozygote Humans Magnetic Resonance Imaging* Male Middle Aged Tremor / genetics, pathology |
| Grant Support | |
ID/Acronym/Agency:
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HD36071/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 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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