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He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum.<\/jats:p>","DOI":"10.1177\/197140091202500111","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T17:40:15Z","timestamp":1429724415000},"page":"81-84","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Childhood Ataxia with Cerebral Hypomyelination Syndrome: A Variant of Patient with Early Childhood Onset Related to EIF\n                    <sub>2<\/sub>\n                    B\n                    <sub>3<\/sub>\n                    Mutation"],"prefix":"10.1177","volume":"25","author":[{"given":"F.","family":"Perfetto","sequence":"first","affiliation":[{"name":"Department of Diagnostic Imaging, University of Foggia, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.P.","family":"Stoppino","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, University of Foggia, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cal\u00ec","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Milillo","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, University of Foggia, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Grilli","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, University of Foggia, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Vinci","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, University of Foggia, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Macarini","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, University of Foggia, \u201cOspedali Riuniti\u201d Hospital; Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,2,1]]},"reference":[{"key":"bibr1-197140091202500111","first-page":"857","volume-title":"Pediatric Neurology Principles and Practice","author":"Kaye E","year":"1999","edition":"3"},{"key":"bibr2-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350314"},{"key":"bibr3-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20418"},{"key":"bibr4-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10112"},{"key":"bibr5-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.6.2352-2363.2004"},{"key":"bibr6-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200112000-00018"},{"key":"bibr7-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.845"},{"key":"bibr8-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70440-9"},{"key":"bibr9-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1007\/s004010000234"},{"key":"bibr10-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1042\/BST0340022"},{"key":"bibr11-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2007.00427.x"},{"key":"bibr12-197140091202500111","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.2.540"}],"container-title":["The Neuroradiology Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/197140091202500111","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/197140091202500111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:30:21Z","timestamp":1777588221000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/197140091202500111"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2012,2]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1177\/197140091202500111"],"URL":"https:\/\/doi.org\/10.1177\/197140091202500111","relation":{},"ISSN":["1971-4009","2385-1996"],"issn-type":[{"value":"1971-4009","type":"print"},{"value":"2385-1996","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2]]}}}