{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:10:33Z","timestamp":1760983833754},"reference-count":73,"publisher":"FapUNIFESP (SciELO)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:p>FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and\/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.<\/jats:p>","DOI":"10.1590\/s0004-282x2010000500023","type":"journal-article","created":{"date-parts":[[2010,10,28]],"date-time":"2010-10-28T02:08:24Z","timestamp":1288231704000},"page":"791-798","source":"Crossref","is-referenced-by-count":14,"title":["The fragile x-associated tremor and ataxia syndrome (FXTAS)"],"prefix":"10.1590","volume":"68","author":[{"given":"Leonardo Pires","family":"Capelli","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rcia R\u00fabia Rodrigues","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"USP"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia C","family":"Leite","sequence":"additional","affiliation":[{"name":"USP"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egberto R","family":"Barbosa","sequence":"additional","affiliation":[{"name":"USP"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Nitrini","sequence":"additional","affiliation":[{"name":"USP"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M","family":"Vianna-Morgante","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","article-title":"Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X","volume":"57","author":"Hagerman RJ","year":"2001","journal-title":"Neurology","ISSN":"http:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1086\/386296","article-title":"The fragile-X premutation: a maturing 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