{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T22:09:49Z","timestamp":1793830189831,"version":"4.6.1"},"reference-count":57,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T00:00:00Z","timestamp":1374624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:p><jats:bold>Fragile X\u2010associated tremor\/ataxia syndrome (<jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>) is a late\u2010onset neurodegenerative disorder associated with <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> gene premutation alleles (55\u2013200 <jats:styled-content style=\"fixed-case\">CGG<\/jats:styled-content> repeats). Fragile X\u2010associated tremor\/ataxia syndrome clinical core features include action tremor, gait ataxia, cognitive deficits progressing to dementia, and frequently parkinsonism. Although the pathogenic molecular mechanism of <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> is not completely understood, the restriction of the phenotype to the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> premutation range has given rise to a model based on a <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> toxic gain\u2010of\u2010function. Since the identification of the first <jats:styled-content style=\"fixed-case\">microRNAs<\/jats:styled-content> (miRNAs) and their role in normal development, several studies have associated them with neurodegenerative diseases such as Parkinson, Alzheimer and Huntington diseases, suggesting that they play a key role in brain development, as well as in its morphogenesis. Herein, we present the characterization of <jats:styled-content style=\"fixed-case\">miRNA<\/jats:styled-content> expression profiles in <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> male patients using deep sequencing\u2010based technologies and microarray technology. Deep sequencing analysis evidenced 83 <jats:styled-content style=\"fixed-case\">miRNAs<\/jats:styled-content> that were significantly deregulated whereas microarray analysis showed 31. When comparing these results, 14 <jats:styled-content style=\"fixed-case\">miRNAs<\/jats:styled-content> were found deregulated in <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> patients. <jats:styled-content style=\"fixed-case\">MiR<\/jats:styled-content>\u2010424 and <jats:styled-content style=\"fixed-case\">miR<\/jats:styled-content>\u2010574\u20103p showed significant fold change adjusted <jats:italic>P<\/jats:italic>\u2010values in both platforms in <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> patients. <jats:styled-content style=\"fixed-case\">MiR<\/jats:styled-content>\u2010424 has been founded substantially and specifically enriched in human cerebral cortical white matter of Alzheimer disease patients, which, together with cerebral atrophy, is a prominent imaging finding in individuals with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>. The study provides the first systematic evidence of differential <jats:styled-content style=\"fixed-case\">miRNA<\/jats:styled-content> expression changes in <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> blood samples. Although further studies are necessary to better characterize the <jats:styled-content style=\"fixed-case\">miRNA<\/jats:styled-content> function in <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> disorder, our results suggest that they might contribute to its pathogenesis.<\/jats:bold><\/jats:p>","DOI":"10.1111\/gbb.12061","type":"journal-article","created":{"date-parts":[[2013,6,22]],"date-time":"2013-06-22T17:18:43Z","timestamp":1371921523000},"page":"595-603","source":"Crossref","is-referenced-by-count":24,"title":["<scp>MicroRNA<\/scp> expression profiling in blood from fragile X\u2010associated tremor\/ataxia syndrome patients"],"prefix":"10.1111","volume":"12","author":[{"given":"M. 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