{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:08:29Z","timestamp":1792800509471,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T00:00:00Z","timestamp":1479254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hyperintensities in the splenium of the corpus callosum (<jats:styled-content style=\"fixed-case\">CCS<\/jats:styled-content>) have been proposed as a radiographic diagnostic criterion for fragile X\u2010associated tremor ataxia syndrome (<jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Magnetic resonance images from patients with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> and from nonpremutation carriers with movement disorders were viewed by a radiologist who was blinded to gene status, and radiographic criteria for <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> were scored. Phenotypic data used for diagnosis of <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> also were collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010two patients with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> and 23 controls were included. Hyperintensity in the <jats:styled-content style=\"fixed-case\">CCS<\/jats:styled-content> (the <jats:styled-content style=\"fixed-case\">CCS<\/jats:styled-content> sign) was more common in men with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> versus controls (87% vs. 40%) but not in women with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> (100% vs. 50% in controls). The <jats:styled-content style=\"fixed-case\">CCS<\/jats:styled-content> sign had higher sensitivity compared with the middle cerebellar peduncle sign (white matter lesions in middle cerebellar peduncle) in both men (0.87 vs. 0.67) and women (1 vs. 0.29) with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>, but it had lower specificity in both men (0.6 vs. 0.8) and women (0.5 vs. 1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The <jats:styled-content style=\"fixed-case\">CCS<\/jats:styled-content> sign is common in patients with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>, but it is not significantly more prevalent in women with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> compared with controls. This may be due to small sample sizes in the current study. Other signs, such as brainstem white matter disease, were more common in women with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> and differed from those in men with <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>. This finding suggests that additional studies evaluating the diagnostic criteria for <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content> need to be conducted, ideally with neuropathological confirmation of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.12449","type":"journal-article","created":{"date-parts":[[2016,9,19]],"date-time":"2016-09-19T20:22:40Z","timestamp":1474316560000},"page":"383-388","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["The Corpus Callosum Splenium Sign in Fragile X\u2010Associated Tremor Ataxia Syndrome"],"prefix":"10.1002","volume":"4","author":[{"given":"Deborah A.","family":"Hall","sequence":"first","affiliation":[{"name":"Department of Neurological Sciences Rush University Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan","family":"Hermanson","sequence":"additional","affiliation":[{"name":"Chicago Medical School 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