{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T05:13:51Z","timestamp":1778908431591,"version":"3.51.4"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"vor","delay-in-days":215,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007289","name":"Nanjing Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1016\/j.prdoa.2025.100384","type":"journal-article","created":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T03:53:02Z","timestamp":1754452382000},"page":"100384","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report"],"prefix":"10.1016","volume":"13","author":[{"given":"Yubo","family":"Hu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haochen","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shugang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingjian","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.prdoa.2025.100384_b0005","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1212\/WNL.0000000000002943","article-title":"Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)","volume":"87","author":"Berkovic","year":"2016","journal-title":"Neurology"},{"issue":"10","key":"10.1016\/j.prdoa.2025.100384_b0010","doi-asserted-by":"crossref","DOI":"10.3390\/ijms23105729","article-title":"Recent insight into the genetic basis, clinical features, and diagnostic methods for neuronal ceroid lipofuscinosis","volume":"23","author":"Kamini\u00f3w","year":"2022","journal-title":"Int. J. Mol. Sci."},{"issue":"1","key":"10.1016\/j.prdoa.2025.100384_b0015","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S1474-4422(18)30368-5","article-title":"Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis","volume":"18","author":"Mole","year":"2019","journal-title":"Lancet Neurol."},{"issue":"2","key":"10.1016\/j.prdoa.2025.100384_b0020","doi-asserted-by":"crossref","DOI":"10.1111\/cns.70261","article-title":"Neuronal ceroid lipofuscinosis-concepts, classification, and avenues for therapy","volume":"31","author":"Zhang","year":"2025","journal-title":"CNS Neurosci. Ther."},{"key":"10.1016\/j.prdoa.2025.100384_b0025","doi-asserted-by":"crossref","unstructured":"G. Maximiano-Alves, R. do Amaral Moreto Caravelas, T.A.P. Gon\u00e7alves, K.F. Corniani, J.C. Nather, C.V. Geraldi-Tomaselli, et al. Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties, Neurogenetics, (2025), 26(1):20.","DOI":"10.1007\/s10048-025-00800-3"},{"issue":"4","key":"10.1016\/j.prdoa.2025.100384_b0030","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1212\/WNL.57.4.576","article-title":"Pheno\/genotypic correlations of neuronal ceroid lipofuscinoses","volume":"57","author":"Wisniewski","year":"2001","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.prdoa.2025.100384_b0035","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1093\/brain\/awy297","article-title":"Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features","volume":"142","author":"Berkovic","year":"2019","journal-title":"Brain J. Neurol."},{"issue":"43","key":"10.1016\/j.prdoa.2025.100384_b0040","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000040248","article-title":"Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: a 10-year case report and case-based review","volume":"103","author":"Huang","year":"2024","journal-title":"Medicine"},{"issue":"15","key":"10.1016\/j.prdoa.2025.100384_b0045","doi-asserted-by":"crossref","first-page":"3533","DOI":"10.12998\/wjcc.v11.i15.3533","article-title":"Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: a case report","volume":"11","author":"Wang","year":"2023","journal-title":"World J. Clin. Cases"},{"key":"10.1016\/j.prdoa.2025.100384_b0050","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.746101","article-title":"A novel CLN6 variant associated with juvenile neuronal ceroid lipofuscinosis in patients with absence of visual loss as a presenting feature","volume":"12","author":"Nicolaou","year":"2021","journal-title":"Front. Genet."},{"issue":"10 Pt B","key":"10.1016\/j.prdoa.2025.100384_b0055","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1016\/j.bbadis.2015.04.001","article-title":"Future perspectives: moving towards NCL treatments","volume":"1852","author":"Cotman","year":"2015","journal-title":"Biochimica et biophysica acta."},{"issue":"1","key":"10.1016\/j.prdoa.2025.100384_b0060","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1136\/pn-2022-003652","article-title":"Adult-onset Kufs disease","volume":"24","author":"Kelly","year":"2024","journal-title":"Pract. Neurol."},{"issue":"3","key":"10.1016\/j.prdoa.2025.100384_b0065","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1515\/jpem-2023-0411","article-title":"Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature","volume":"37","author":"S\u00fcr\u00fcc\u00fc Kara","year":"2024","journal-title":"J. Pediatric Endocrinol. Metabol.: JPEM."},{"issue":"S2","key":"10.1016\/j.prdoa.2025.100384_b0070","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1684\/epd.2016.0844","article-title":"Neuronal ceroid lipofuscinoses","volume":"18","author":"Nita","year":"2016","journal-title":"Epileptic Disorders: Int. Epilepsy J. Videotape"},{"issue":"9","key":"10.1016\/j.prdoa.2025.100384_b0075","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1177\/0883073813493665","article-title":"Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions","volume":"28","author":"Dolisca","year":"2013","journal-title":"J. Child Neurol."},{"issue":"Pt 6","key":"10.1016\/j.prdoa.2025.100384_b0080","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1093\/brain\/awl132","article-title":"Another disorder finds its gene","volume":"129","author":"Ramirez-Montealegre","year":"2006","journal-title":"Brain J. Neurol."},{"issue":"4","key":"10.1016\/j.prdoa.2025.100384_b0085","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1111\/age.13441","article-title":"Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis","volume":"55","author":"Christen","year":"2024","journal-title":"Anim. Genet."},{"issue":"4","key":"10.1016\/j.prdoa.2025.100384_b0090","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/BF00316269","article-title":"Ultrastructural investigations of peripheral nerves in neuronal ceroid-lipofuscinoses (NCL)","volume":"213","author":"Goebel","year":"1976","journal-title":"J. Neurol."},{"issue":"2","key":"10.1016\/j.prdoa.2025.100384_b0095","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1600-0404.1986.tb03262.x","article-title":"Xeroderma pigmentosum with neurological abnormalities: a clinical and neuropathological study","volume":"73","author":"R\u00f6ytt\u00e4","year":"1986","journal-title":"Acta Neurol. Scand."},{"issue":"5","key":"10.1016\/j.prdoa.2025.100384_b0100","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee. standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.prdoa.2025.100384_b0105","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ymgme.2018.12.001","article-title":"Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients","volume":"126","author":"Chin","year":"2019","journal-title":"Mol. Genet. Metab."},{"issue":"12","key":"10.1016\/j.prdoa.2025.100384_b0110","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.049651","article-title":"Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons","volume":"15","author":"Chear","year":"2022","journal-title":"Dis. Model. Mech."}],"container-title":["Clinical Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S259011252500088X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S259011252500088X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T04:54:53Z","timestamp":1778907293000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S259011252500088X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":22,"alternative-id":["S259011252500088X"],"URL":"https:\/\/doi.org\/10.1016\/j.prdoa.2025.100384","relation":{},"ISSN":["2590-1125"],"issn-type":[{"value":"2590-1125","type":"print"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report","name":"articletitle","label":"Article Title"},{"value":"Clinical Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.prdoa.2025.100384","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"100384"}}