| Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene. | |
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MedLine Citation:
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PMID: 17279084 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: A 76-year-old man presented with an 8-year history of balance problems and a 2-year history of short-term memory loss. He had also been experiencing long-term problems with impotence and episodes of urinary incontinence, and had been managed for hypertension for 25 years. His medical history was otherwise unremarkable. Three of his grandchildren had been diagnosed with fragile X syndrome. INVESTIGATIONS: Neurological examination, cognitive and neuropsychological testing, nerve conduction studies, MRI, and genetic testing. DIAGNOSIS: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. MANAGEMENT: Explanation of the genetic ramifications of premutation carrier status for the FMR1 gene, and symptomatic treatment for the clinical difficulties experienced by the patient. |
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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: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Nature clinical practice. Neurology Volume: 3 ISSN: 1745-8358 ISO Abbreviation: - Publication Date: 2007 Feb |
Date Detail:
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Created Date: 2007-02-06 Completed Date: 2007-03-14 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 101261799 Medline TA: Nat Clin Pract Neurol Country: England |
Other Details:
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Languages: eng Pagination: 107-12 Citation Subset: IM |
Affiliation:
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Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, CA 95616, USA. pjhagerman@ucdavis.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aged Ataxia / etiology Brain / pathology Female Fragile X Mental Retardation Protein / genetics, metabolism* Fragile X Syndrome / genetics, pathology, physiopathology Heredodegenerative Disorders, Nervous System / genetics*, pathology, physiopathology* Heterozygote Humans Hypertension / complications Magnetic Resonance Imaging Male Memory Disorders / etiology Pedigree Tremor / etiology Trinucleotide Repeat Expansion / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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AG024488/AG/NIA NIH HHS; HD02274/HD/NICHD NIH HHS; HD36071/HD/NICHD NIH HHS; NS43532/NS/NINDS NIH HHS; U10/CCU 92513//PHS 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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