{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T17:17:16Z","timestamp":1775495836813,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,10,13]],"date-time":"2013-10-13T00:00:00Z","timestamp":1381622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:p>Carriers of an <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> premutation allele (55\u2013200 <jats:styled-content style=\"fixed-case\">CGG<\/jats:styled-content> repeats) often develop the neurodegenerative disorders, fragile X\u2010associated tremor\/ataxia syndrome (<jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>). Neurological signs of <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (<jats:styled-content style=\"fixed-case\">FM<\/jats:styled-content>). Here, we report a Chilean family affected with <jats:styled-content style=\"fixed-case\">FXS<\/jats:styled-content>, inherited from a parent carrier of an <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> unmethylated full mosaic allele, who presented with a fast progressing <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>. This case suggests that the definition of <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> may need to be broadened to not only include those with a premutation but also those with an expanded allele in <jats:styled-content style=\"fixed-case\">FM<\/jats:styled-content> range with a lack of methylation leading to elevated <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic>\u2010<jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> expression levels and subsequent <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> toxicity.<\/jats:p>","DOI":"10.1111\/cge.12278","type":"journal-article","created":{"date-parts":[[2013,9,12]],"date-time":"2013-09-12T18:19:35Z","timestamp":1379009975000},"page":"378-382","source":"Crossref","is-referenced-by-count":42,"title":["<scp>FXTAS<\/scp> in an unmethylated mosaic male with fragile X syndrome from Chile"],"prefix":"10.1111","volume":"86","author":[{"given":"L.","family":"Santa Mar\u00eda","sequence":"first","affiliation":[{"name":"Center for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF) INTA University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pugin","sequence":"additional","affiliation":[{"name":"Center for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF) INTA University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Alliende","sequence":"additional","affiliation":[{"name":"Center for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF) INTA University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Aliaga","sequence":"additional","affiliation":[{"name":"Center for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF) INTA University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Curotto","sequence":"additional","affiliation":[{"name":"Center for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF) INTA University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Aravena","sequence":"additional","affiliation":[{"name":"Center for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF) INTA University of Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.\u2010T.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine University of California Davis  CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mendoza\u2010Morales","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine University of California Davis  CA 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