{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:48Z","timestamp":1790679228094,"version":"4.1.0"},"reference-count":80,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.<\/jats:p>","DOI":"10.1684\/epd.2016.0844","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T09:24:29Z","timestamp":1564737869000},"source":"Crossref","is-referenced-by-count":121,"title":["Neuronal ceroid lipofuscinoses"],"prefix":"10.1002","volume":"18","author":[{"given":"Dragos A.","family":"Nita","sequence":"first","affiliation":[{"name":"Division of Neurology, The Hospital for Sick Children University of Toronto, and Center for Brain and Mental Health, Sick Kids Research Institute  Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Mole","sequence":"additional","affiliation":[{"name":"MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health and Department of Genetics, Evolution and Environment University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"Division of Neurology, The Hospital for Sick Children University of Toronto, and Center for Brain and Mental Health, Sick Kids Research Institute  Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_21_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2006.01.034"},{"key":"e_1_2_21_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2005.027045"},{"key":"e_1_2_21_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(92)90032-T"},{"key":"e_1_2_21_5_1","first-page":"386","article-title":"Cerebral degeneration with symmetrical changes in the maculae in two members of a family","volume":"23","author":"Batten FE","year":"1903","journal-title":"Trans Ophthalmol Soc UK"},{"key":"e_1_2_21_6_1","first-page":"7","article-title":"\u00dcber sp\u00e4tinfantile famili\u00e4re amaurotische Idiotie mit Kleinhirnsymptonen","volume":"50","author":"Bielschowsky M","year":"1913","journal-title":"Dtsch Z Nervenheilkd"},{"key":"e_1_2_21_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds089"},{"key":"e_1_2_21_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2008.9"},{"key":"e_1_2_21_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000041913.97883.8B"},{"key":"e_1_2_21_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.07.008"},{"key":"e_1_2_21_11_1","doi-asserted-by":"publisher","DOI":"10.1076\/1381-6810(200006)2121-8FT069"},{"key":"e_1_2_21_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(97)80041-4"},{"key":"e_1_2_21_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2004.tb00499.x"},{"key":"e_1_2_21_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.3006"},{"key":"e_1_2_21_15_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200610151"},{"key":"e_1_2_21_16_1","doi-asserted-by":"publisher","DOI":"10.3171\/FOC\/2008\/24\/3-4\/E21"},{"key":"e_1_2_21_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00697751"},{"key":"e_1_2_21_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(73)90076-2"},{"key":"e_1_2_21_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M400643200"},{"key":"e_1_2_21_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.04.064"},{"key":"e_1_2_21_21_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0014-2956.2001.02530.x"},{"key":"e_1_2_21_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.11.004"},{"key":"e_1_2_21_23_1","first-page":"165","article-title":"Dosud nepopsan\u00fd pripad famili\u00e1rniamaurotick\u00e9 idiotie komplikovan\u00e9 s hypoplasii mozeckovou","volume":"13","author":"Jansk\u00fd J","year":"1908","journal-title":"Sb Lek"},{"key":"e_1_2_21_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm306"},{"key":"e_1_2_21_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn366"},{"key":"e_1_2_21_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02900989"},{"key":"e_1_2_21_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2006.05.007"},{"key":"e_1_2_21_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710260"},{"key":"e_1_2_21_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70142-5"},{"key":"e_1_2_21_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0225-z"},{"key":"e_1_2_21_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.002"},{"key":"e_1_2_21_32_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2830"},{"key":"e_1_2_21_33_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000169019.41332.8a"},{"issue":"2","key":"e_1_2_21_34_1","first-page":"S1","article-title":"Progressive Myoclonus Epilepsies: State\u2010of\u2010the\u2010Art","volume":"18","author":"Minassian BA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_21_35_1","unstructured":"MinkJW.Neuronal ceroid lipofuscinoses (Batten's disease). In:American Academy of Neurology Annual Meeting 2010."},{"key":"e_1_2_21_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.291"},{"key":"e_1_2_21_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70151-6"},{"key":"e_1_2_21_38_1","unstructured":"MoleSE WilliamsRE.Neuronal Ceroid\u2010Lipofuscinoses. In: Pagon RA Adam MP Ardinger HH Wallace SE Amemiya A Bean LJH Bird TD Fong CT Mefford HC Smith RJH Stephens K (Editors). GeneReviews\u00ae [Internet]. Seattle (WA).2001Oct 10 [updated 2013 Aug 1]."},{"key":"e_1_2_21_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.05.011"},{"key":"e_1_2_21_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-005-0218-3"},{"key":"e_1_2_21_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.001.0001"},{"key":"e_1_2_21_42_1","doi-asserted-by":"publisher","DOI":"10.1086\/514846"},{"key":"e_1_2_21_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20975"},{"key":"e_1_2_21_44_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2676-05.2006"},{"key":"e_1_2_21_45_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000145836.72059.3B"},{"key":"e_1_2_21_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.20367"},{"key":"e_1_2_21_47_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2834"},{"key":"e_1_2_21_48_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000252825.85947.2f"},{"key":"e_1_2_21_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi406"},{"key":"e_1_2_21_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100720070039"},{"key":"e_1_2_21_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4838(98)00238-6"},{"key":"e_1_2_21_52_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.9.1828"},{"key":"e_1_2_21_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(73)90075-0"},{"key":"e_1_2_21_54_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071423"},{"key":"e_1_2_21_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-424X(09)70193-X"},{"key":"e_1_2_21_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20187"},{"key":"e_1_2_21_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.008"},{"key":"e_1_2_21_58_1","first-page":"1373","article-title":"MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis","volume":"19","author":"Seitz D","year":"1998","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_21_59_1","doi-asserted-by":"publisher","DOI":"10.3171\/2013.3.PEDS12397"},{"key":"e_1_2_21_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10227"},{"key":"e_1_2_21_61_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl107"},{"key":"e_1_2_21_62_1","doi-asserted-by":"publisher","DOI":"10.1086\/302427"},{"key":"e_1_2_21_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.200401054"},{"key":"e_1_2_21_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.021"},{"key":"e_1_2_21_65_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds558"},{"key":"e_1_2_21_66_1","first-page":"620","article-title":"\u00dcber famili\u00e4re amaurotische Idiotien","volume":"24","author":"Spielmeyer W","year":"1905","journal-title":"Neurol Cb"},{"key":"e_1_2_21_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.023"},{"key":"e_1_2_21_68_1","doi-asserted-by":"publisher","DOI":"10.1086\/504159"},{"key":"e_1_2_21_69_1","first-page":"347","article-title":"Beretnig om et maerkeligt Sygdomstilfaelde hos fire S\u00f8dskende I N\u00e6rheden af Roraas","volume":"1","author":"Stengel OC","year":"1826","journal-title":"Eyr"},{"key":"e_1_2_21_70_1","first-page":"1","article-title":"Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies","volume":"46","author":"Topcu M","year":"2004","journal-title":"Turk J Pediatr"},{"key":"e_1_2_21_71_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199704000-00005"},{"key":"e_1_2_21_72_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973654"},{"key":"e_1_2_21_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1103"},{"key":"e_1_2_21_74_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-815788"},{"key":"e_1_2_21_75_1","doi-asserted-by":"publisher","DOI":"10.1038\/376584a0"},{"key":"e_1_2_21_76_1","doi-asserted-by":"publisher","DOI":"10.1159\/000213427"},{"key":"e_1_2_21_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.03.017"},{"key":"e_1_2_21_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2014.06.008"},{"key":"e_1_2_21_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00173-2"},{"key":"e_1_2_21_80_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.4.576"},{"key":"e_1_2_21_81_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2008.022"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0844","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:11:00Z","timestamp":1710763860000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0844"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":80,"journal-issue":{"issue":"s2","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1684\/epd.2016.0844"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0844","archive":["Portico"],"relation":{"is-cited-by":[{"id-type":"doi","id":"10.3389\/fncel.2019.00092","asserted-by":"object"},{"id-type":"doi","id":"10.3389\/fnins.2018.00464","asserted-by":"object"},{"id-type":"doi","id":"10.7554\/eLife.40316","asserted-by":"object"},{"id-type":"doi","id":"10.3389\/fnagi.2018.00079","asserted-by":"object"}]},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9]]}}}