{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:28:11Z","timestamp":1791275291761,"version":"4.1.0"},"reference-count":10,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2012,7,4]],"date-time":"2012-07-04T00:00:00Z","timestamp":1341360000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:p>Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrophy helps guide further investigations. We performed a detailed review of 300 patients with confirmed cerebellar atrophy on magnetic resonance imaging over a 10-year period. A diagnosis was established in 47% of patients: Mitochondrial disorders were most common, followed by neuronal ceroid lipofuscinosis, ataxia telangiectasia, and late-onset GM2 gangliosidosis. We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses.<\/jats:p>","DOI":"10.1177\/0883073812448680","type":"journal-article","created":{"date-parts":[[2012,7,5]],"date-time":"2012-07-05T03:22:01Z","timestamp":1341458521000},"page":"1121-1132","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":42,"title":["Diagnostic Approach to Childhood-Onset Cerebellar Atrophy"],"prefix":"10.1177","volume":"27","author":[{"given":"Almundher","family":"Al-Maawali","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Blaser","sequence":"additional","affiliation":[{"name":"Division of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada"},{"name":"Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2012,7,4]]},"reference":[{"key":"bibr1-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.08.007"},{"key":"bibr2-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2007.07.010"},{"key":"bibr3-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurad.2009.12.009"},{"key":"bibr4-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200110101"},{"key":"bibr5-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050597"},{"key":"bibr6-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.10.1739"},{"key":"bibr7-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00722.x"},{"key":"bibr8-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70054-6"},{"key":"bibr9-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588038"},{"key":"bibr10-0883073812448680","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.07.016"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812448680","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812448680","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812448680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:10Z","timestamp":1777495030000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812448680"}},"subtitle":["A 10-Year Retrospective Study of 300 Patients"],"editor":[{"given":"Bernard L.","family":"Maria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2012,7,4]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1177\/0883073812448680"],"URL":"https:\/\/doi.org\/10.1177\/0883073812448680","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,4]]}}}