{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T07:11:40Z","timestamp":1775113900251,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,8,25]],"date-time":"2005-08-25T00:00:00Z","timestamp":1124928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fragile X\u2013associated tremor\/ataxia syndrome (FXTAS) is a progressive adult\u2010onset tremor\/ataxia syndrome caused by premutations in the <jats:italic>FMR1<\/jats:italic> gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor\u2010like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20673","type":"journal-article","created":{"date-parts":[[2005,8,25]],"date-time":"2005-08-25T18:46:41Z","timestamp":1124995601000},"page":"98-102","source":"Crossref","is-referenced-by-count":35,"title":["Intrafamilial variability in fragile X\u2013associated tremor\/ataxia syndrome"],"prefix":"10.1002","volume":"21","author":[{"given":"Nils","family":"Peters","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Kamm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friedrich","family":"Asmus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elke","family":"Holinski\u2010Feder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduard","family":"Kraft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Dichgans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roland","family":"Br\u00fcning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Gasser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"B\u00f6tzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,25]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.1.127"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.291.4.460"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/374321"},{"key":"e_1_2_4_5_2","first-page":"1757","article-title":"Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction","volume":"23","author":"Brunberg JA","year":"2002","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/420700"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20360"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024190"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.1.117"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20043"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.4.371"},{"key":"e_1_2_4_12_2","first-page":"1006","article-title":"Prevalence of carriers of premutation\u2010size alleles of the FMRI gene and implications for the population genetics of the fragile X syndrome","volume":"57","author":"Rousseau F","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/302774"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20673","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20673","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:19:15Z","timestamp":1760969955000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20673"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,25]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/mds.20673"],"URL":"https:\/\/doi.org\/10.1002\/mds.20673","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,25]]}}}