| Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. | |
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MedLine Citation:
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PMID: 17290448 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. |
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Authors:
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Leonardo P Capelli; Márcia R R Gonçalves; Fernando Kok; Cláudia C Leite; Ricardo Nitrini; Egberto R Barbosa; Angela M Vianna-Morgante |
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Publication Detail:
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Type: Journal Article |
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 Apr |
Date Detail:
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Created Date: 2007-05-01 Completed Date: 2007-07-12 Revised Date: - |
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: 866-70 Citation Subset: IM |
Affiliation:
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Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Cerebellum / pathology* Family Female Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics*, pathology Humans Interleukin-4 / blood Interleukin-5 / blood Interleukin-6 / blood Interleukin-8 / blood Male Pedigree Siblings Trinucleotide Repeats* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Interleukin-5; 0/Interleukin-6; 0/Interleukin-8; 139135-51-6/Fragile X Mental Retardation Protein; 207137-56-2/Interleukin-4 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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