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Clinically, these diseases manifest at varying ages of onset, and associated symptoms include cognitive decline, movement disorders, seizures, and retinopathy. The underlying cell biology and biochemistry that cause the clinical phenotypes of neuronal ceroid lipofuscinoses are still being elaborated. The 2012 Neurobiology of Disease in Children Symposium, held in conjunction with the 41st Annual Meeting of the Child Neurology Society, aimed to (1) provide a survey of the currently accepted forms of neuronal ceroid lipofuscinoses and their associated genetic mutations and clinical phenotypes; (2) highlight the specific pathology of Batten disease; (3) discuss the contemporary understanding of the molecular mechanisms that lead to pathology; and (4) introduce strategies that are being translated from bench to bedside as potential therapeutics.<\/jats:p>","DOI":"10.1177\/0883073813493665","type":"journal-article","created":{"date-parts":[[2013,7,9]],"date-time":"2013-07-09T22:06:50Z","timestamp":1373407610000},"page":"1074-1100","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":38,"title":["Batten Disease"],"prefix":"10.1177","volume":"28","author":[{"given":"Sarah-Bianca","family":"Dolisca","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Georgia Regents University, Augusta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitali","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Georgia Regents University, Augusta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Pearce","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Dakota, Sioux Falls, SD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan W.","family":"Mink","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester, Rochester, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard L.","family":"Maria","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Georgia Regents University, Augusta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,7,9]]},"reference":[{"key":"bibr1-0883073813493665","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.021"},{"key":"bibr2-0883073813493665","doi-asserted-by":"publisher","DOI":"10.1038\/ng.536"},{"key":"bibr3-0883073813493665","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.22.2709"},{"key":"bibr4-0883073813493665","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2834"},{"key":"bibr5-0883073813493665","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813493665","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813493665","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813493665","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:38:13Z","timestamp":1777495093000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813493665"}},"subtitle":["Clinical Aspects, Molecular Mechanisms, Translational Science, and Future Directions"],"short-title":[],"issued":{"date-parts":[[2013,7,9]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1177\/0883073813493665"],"URL":"https:\/\/doi.org\/10.1177\/0883073813493665","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,9]]}}}