{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T14:57:06Z","timestamp":1780498626929,"version":"3.54.1"},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.ejpn.2021.05.015","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T19:13:52Z","timestamp":1622834032000},"page":"94-98","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7054-3623","authenticated-orcid":false,"given":"Didem","family":"Ardicli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goknur","family":"Haliloglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahsan","family":"Gocmen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceren","family":"Gunbey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8982-3016","authenticated-orcid":false,"given":"Meral","family":"Topcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2021.05.015_bib2","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1399-0004.2008.01054.x","article-title":"The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland","volume":"74","author":"Moore","year":"2008","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejpn.2021.05.015_bib3","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1002\/ajmg.1320420422","article-title":"Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders","volume":"42","author":"Claussen","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.05.015_bib4","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"361","article-title":"NCL incidence and prevalence data","author":"Williams","year":"2011"},{"key":"10.1016\/j.ejpn.2021.05.015_bib5","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1055\/s-2007-973654","article-title":"Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures","volume":"28","author":"Uvebrant","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2021.05.015_bib6","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1517\/21678707.2014.935762","article-title":"Screening, diagnosis and epidemiology of Batten disease","volume":"2","author":"Simpson","year":"2014","journal-title":"Expert Opinion on Orphan Drugs"},{"key":"10.1016\/j.ejpn.2021.05.015_bib7","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1212\/01.wnl.0000267885.47092.40","article-title":"Neurological deterioration in late infantile neuronal ceroid lipofuscinosis","volume":"69","author":"Worgall","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2021.05.015_bib8","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1055\/s-2000-7453","article-title":"A\u00a0CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL","volume":"31","author":"Simonati","year":"2000","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2021.05.015_bib9","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.39.11.822","article-title":"Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles","volume":"39","author":"Ju","year":"2002","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejpn.2021.05.015_bib10","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1097\/00125817-200011000-00002","article-title":"Heterogeneity of late-infantile neuronal ceroid lipofuscinosis","volume":"2","author":"Zhong","year":"2000","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejpn.2021.05.015_bib11","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ymgme.2007.08.124","article-title":"CLN2\/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype","volume":"93","author":"Bessa","year":"2008","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib12","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-005-0218-3","article-title":"Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses","volume":"6","author":"Mole","year":"2005","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ejpn.2021.05.015_bib13","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1177\/0883073812448459","article-title":"Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients","volume":"28","author":"P\u00e9rez-Poyato","year":"2013","journal-title":"J.\u00a0Child Neurol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib14","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/S2352-4642(18)30179-2","article-title":"Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study","volume":"2","author":"Nickel","year":"2018","journal-title":"Lancet Child Adolesc Health"},{"key":"10.1016\/j.ejpn.2021.05.015_bib1","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2016.07.011","article-title":"Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): expert recommendations for early detection and laboratory diagnosis","volume":"119","author":"Fietz","year":"2016","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib15","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1111\/epi.13820","article-title":"Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease","volume":"58","author":"Specchio","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejpn.2021.05.015_bib16","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1007\/s40265-017-0771-8","article-title":"Cerliponase alfa: first global approval","volume":"77","author":"Markham","year":"2017","journal-title":"Drugs"},{"key":"10.1016\/j.ejpn.2021.05.015_bib17","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1056\/NEJMoa1712649","article-title":"Study of intraventricular cerliponase alfa for CLN2 disease","volume":"378","author":"Schulz","year":"2018","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ejpn.2021.05.015_bib18","first-page":"1","article-title":"Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies","volume":"46","author":"Top\u00e7u","year":"2004","journal-title":"Turk. J. Pediatr."},{"key":"10.1016\/j.ejpn.2021.05.015_bib19","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1093\/brain\/awn366","article-title":"Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis","volume":"132","author":"Kousi","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.05.015_bib20","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ejpn.2020.07.009","article-title":"MRI in CLN2 disease patients: subtle features that support an early diagnosis","volume":"28","author":"Ayd\u0131n","year":"2020","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib21","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1172-8-19","article-title":"Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy","volume":"8","author":"Santorelli","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejpn.2021.05.015_bib22","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.pediatrneurol.2017.01.034","article-title":"Management strategies for CLN2 disease","volume":"69","author":"Williams","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib23","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1111\/jpc.14890","article-title":"Neuronal ceroid lipofuscinosis type 2: an Australian case series","volume":"56","author":"Johnson","year":"2020","journal-title":"J.\u00a0Paediatr. Child Health"},{"key":"10.1016\/j.ejpn.2021.05.015_bib24","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.gene.2012.12.058","article-title":"Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America","volume":"516","author":"Kohan","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejpn.2021.05.015_bib25","doi-asserted-by":"crossref","first-page":"1924","DOI":"10.1002\/humu.23860","article-title":"Mutation update: review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease","volume":"40","author":"Gardner","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejpn.2021.05.015_bib26","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/ajmg.10660","article-title":"Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations","volume":"112","author":"Steinfeld","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.05.015_bib27","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/humu.21624","article-title":"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses","volume":"33","author":"Kousi","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejpn.2021.05.015_bib28","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1177\/0883073816658659","article-title":"Unique Characteristics of the photoparoxysmal response in patients with neuronal ceroid lipofuscinosis type 2: can EEG be a Biomarker?","volume":"31","author":"Albert","year":"2016","journal-title":"J.\u00a0Child Neurol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib29","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/dmcn.14346","article-title":"Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis","volume":"62","author":"Dozi\u00e8res-Puyravel","year":"2020","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib30","doi-asserted-by":"crossref","first-page":"1938","DOI":"10.3174\/ajnr.A4816","article-title":"Volumetric description of brain atrophy in neuronal ceroid lipofuscinosis 2: supratentorial gray matter shows uniform disease progression","volume":"37","author":"L\u00f6bel","year":"2016","journal-title":"Am. J. Neuroradiol."},{"key":"10.1016\/j.ejpn.2021.05.015_bib31","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.3174\/ajnr.A4669","article-title":"Brain region-specific degeneration with disease progression in late infantile neuronal ceroid lipofuscinosis (CLN2 Disease)","volume":"37","author":"Dyke","year":"2016","journal-title":"Am. J. Neuroradiol."}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821001197?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821001197?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:38:15Z","timestamp":1761071895000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379821001197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":31,"alternative-id":["S1090379821001197"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.05.015","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.05.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}