{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T10:48:24Z","timestamp":1752230904054,"version":"3.40.5"},"reference-count":5,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:00:00Z","timestamp":1607644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:00:00Z","timestamp":1607644800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Neurol"],"abstract":"<jats:p>Fragile-X-associated tremor\/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the &lt;i&gt;FMR1&lt;\/i&gt;gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse. <\/jats:p>","DOI":"10.1159\/000511954","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T22:06:39Z","timestamp":1607724399000},"page":"466-471","source":"Crossref","is-referenced-by-count":1,"title":["Fragile-X-Associated Tremor\/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report"],"prefix":"10.1159","volume":"12","author":[{"given":"Giulia","family":"Grigioni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5225-5414","authenticated-orcid":false,"given":"Christian","family":"Saleh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip","family":"Jaszczuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothea","family":"Wand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Wilmes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margret","family":"Hund-Georgiadis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,12,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.291.4.460"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086\/420700"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.2310\/JIM.0b013e3181af59c4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1080\/13854046.2016.1202239"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2014.01023"}],"container-title":["Case Reports in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/511954","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/511954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:12:05Z","timestamp":1745424725000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000511954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,11]]},"references-count":5,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,1,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000511954","archive":["Portico"],"relation":{},"ISSN":["1662-680X"],"issn-type":[{"type":"electronic","value":"1662-680X"}],"subject":[],"published":{"date-parts":[[2020,12,11]]}}}