{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T09:01:43Z","timestamp":1740128503312,"version":"3.37.3"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"DOI":"10.1007\/s12311-024-01773-z","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T09:55:44Z","timestamp":1733824544000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review"],"prefix":"10.1007","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5399-5713","authenticated-orcid":false,"given":"Sultan","family":"\u00c7i\u00e7ek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0215-1043","authenticated-orcid":false,"given":"Mira\u00e7","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9913-2510","authenticated-orcid":false,"given":"Fatma P\u0131nar","family":"Tabanl\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7238-2894","authenticated-orcid":false,"given":"Engin","family":"K\u00f6se","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2514-8461","authenticated-orcid":false,"given":"\u00d6mer","family":"Bekta\u015f","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6665-2912","authenticated-orcid":false,"given":"Serap","family":"Teber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,10]]},"reference":[{"key":"1773_CR1","doi-asserted-by":"publisher","unstructured":"Radke J, Stenzel W, Goebel HH, Human NCL, Neuropathology. Biochim Biophys Acta. 2015;1852:2262\u20136. https:\/\/doi.org\/10.1016\/j.bbadis.2015.05.007.","DOI":"10.1016\/j.bbadis.2015.05.007"},{"key":"1773_CR2","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1016\/j.bbadis.2013.04.008","volume":"1832","author":"A Schulz","year":"2013","unstructured":"Schulz A, Kohlsch\u00fctter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013;1832:1801\u20136. https:\/\/doi.org\/10.1016\/j.bbadis.2013.04.008.","journal-title":"Biochim Biophys Acta"},{"key":"1773_CR3","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1007\/s10072-021-05067-8","volume":"42","author":"M Kose","year":"2021","unstructured":"Kose M, Kose E, \u00dcnalp A, Y\u0131lmaz \u00dc, Edizer S, Tekin HG, et al. Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey. Neurol Sci. 2021;42:1103\u201311. https:\/\/doi.org\/10.1007\/s10072-021-05067-8.","journal-title":"Neurol Sci"},{"key":"1773_CR4","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1474-4422(18)30368-5","volume":"18","author":"SE Mole","year":"2019","unstructured":"Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, et al. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol. 2019;18:107\u201316. https:\/\/doi.org\/10.1016\/S1474-4422(18)30368-5.","journal-title":"Lancet Neurol"},{"key":"1773_CR5","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1212\/WNL.0b013e31825f0547","volume":"79","author":"RE Williams","year":"2012","unstructured":"Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79:183\u201391. https:\/\/doi.org\/10.1212\/WNL.0b013e31825f0547.","journal-title":"Neurology"},{"key":"1773_CR6","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1086\/504159","volume":"78","author":"R Steinfeld","year":"2006","unstructured":"Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006;78:988\u201398. https:\/\/doi.org\/10.1086\/504159.","journal-title":"Am J Hum Genet"},{"key":"1773_CR7","doi-asserted-by":"publisher","first-page":"581805","DOI":"10.3389\/fcell.2021.581805","volume":"9","author":"J Bunk","year":"2021","unstructured":"Bunk J, Prieto Huarcaya S, Drobny A, Dobert JP, Walther L, Rose-John S, et al. Cathepsin D variants Associated with neurodegenerative diseases Show Dysregulated functionality and modified \u03b1-Synuclein degradation Properties. Front Cell Dev Biol. 2021;9:581805. https:\/\/doi.org\/10.3389\/fcell.2021.581805.","journal-title":"Front Cell Dev Biol"},{"key":"1773_CR8","doi-asserted-by":"publisher","first-page":"1873","DOI":"10.1212\/WNL.0000000000000981","volume":"83","author":"J Hersheson","year":"2014","unstructured":"Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, et al. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology. 2014;83:1873\u20135. https:\/\/doi.org\/10.1212\/WNL.0000000000000981.","journal-title":"Neurology"},{"key":"1773_CR9","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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. Genet Med. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"key":"1773_CR10","doi-asserted-by":"publisher","first-page":"e1777","DOI":"10.1002\/mgg3.1777","volume":"9","author":"J Yang","year":"2021","unstructured":"Yang J, Ding X, Meng S, Cai J, Zhou W. The c.863A\u2009>\u2009G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease. Mol Genet Genomic Med. 2021;9:e1777. https:\/\/doi.org\/10.1002\/mgg3.1777.","journal-title":"Mol Genet Genomic Med"},{"key":"1773_CR11","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1093\/brain\/awl107","volume":"129","author":"E Siintola","year":"2006","unstructured":"Siintola E, Partanen S, Str\u00f6mme P, Haapanen A, Haltia M, Maehlen J, et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006;129:1438\u201345. https:\/\/doi.org\/10.1093\/brain\/awl107.","journal-title":"Brain"},{"key":"1773_CR12","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1007\/s00415-016-8111-6","volume":"263","author":"S Doccini","year":"2016","unstructured":"Doccini S, Sartori S, Maeser S, Pezzini F, Rossato S, Moro F, et al. Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. J Neurol. 2016;263:1029\u201332. https:\/\/doi.org\/10.1007\/s00415-016-8111-6.","journal-title":"J Neurol"},{"key":"1773_CR13","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/s0887-8994(00)00138-7","volume":"22","author":"E Kirveskari","year":"2000","unstructured":"Kirveskari E, Partinen M, Salmi T, Sainio K, Telakivi T, H\u00e4m\u00e4l\u00e4inen M, et al. Sleep alterations in juvenile neuronal ceroid-lipofuscinosis. Pediatr Neurol. 2000;22:347\u201354. https:\/\/doi.org\/10.1016\/s0887-8994(00)00138-7.","journal-title":"Pediatr Neurol"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01773-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-024-01773-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01773-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T06:45:27Z","timestamp":1737528327000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-024-01773-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,10]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,2]]}},"alternative-id":["1773"],"URL":"https:\/\/doi.org\/10.1007\/s12311-024-01773-z","relation":{},"ISSN":["1473-4230"],"issn-type":[{"type":"electronic","value":"1473-4230"}],"subject":[],"published":{"date-parts":[[2024,12,10]]},"assertion":[{"value":"3 December 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 December 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors confirm that the approval of an institutional review board was not required for this work. A written informed consent of the patient was obtained for the publication of his data. The authors have read the Journal\u2019s position on issues involved in the ethical publication and affirm that this work is consistent with the guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Informed consent for the publication of this report was obtained from the patient\u2019s parents in accordance with the national ethical regulation.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"7"}}