| FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening. | |
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MedLine Citation:
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PMID: 17917121 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder characterized by progressive action tremor and ataxia that occurs in premutation carriers of the FMR1 gene. The incidence of FMR1 premutated carriers in the general population is relatively high, and therefore FXTAS might explain a considerable number of sporadic, late-onset ataxias. To better establish the prevalence of FXTAS among undiagnosed Spanish patients with ataxia, we have performed a FMR1 premutation screening. Our results evidenced three individuals carrying premutated alleles, giving an estimated FXTAS prevalence of 1.95% among patients with late-onset ataxia (1.15% for males and 3% for females). Molecular characterization of premutation carriers evidences lower fragile X mental retardation 1 protein levels and increased FMR1 mRNA levels. Clinical and neuroimaging findings support FXTAS diagnosis in these patients. Because of the high prevalence of FMR1 premutation in the general population, the description and characterization of the FXTAS syndrome is of great interest as it may represent one of the more common monogenic causes of ataxia, tremor, and dementia. The results obtained in this study demonstrate that FXTAS should be incorporated to spinocerebellar ataxia genetic screening protocols. Early diagnosis of these patients benefits not only them but also the rest of the family that should be advised for the fragile X syndrome. |
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Authors:
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Laia Rodriguez-Revenga; Beatriz Gómez-Anson; Esteban Muñoz; Dolores Jiménez; Monica Santos; Mar Tintoré; Gisela Martín; Luis Brieva; Montserrat Milà |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Molecular neurobiology Volume: 35 ISSN: 0893-7648 ISO Abbreviation: Mol. Neurobiol. Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-10-05 Completed Date: 2008-03-04 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8900963 Medline TA: Mol Neurobiol Country: United States |
Other Details:
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Languages: eng Pagination: 324-8 Citation Subset: IM |
Affiliation:
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Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aged Aged, 80 and over Ataxia* / diagnosis, genetics, pathology, physiopathology Female Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome* / diagnosis, genetics, pathology, physiopathology Genetic Predisposition to Disease Genetic Testing Humans Male Middle Aged Spain |
| 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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