{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:35:16Z","timestamp":1793158516509,"version":"4.5.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"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":["Acta Neurol Belg"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1007\/s13760-026-03108-7","type":"journal-article","created":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T02:17:45Z","timestamp":1780971465000},"page":"1585-1592","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic characteristics of pediatric patients with vanishing white matter disease: a retrospective single-center study"],"prefix":"10.1007","volume":"126","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4075-9854","authenticated-orcid":false,"given":"Mustafa","family":"Y\u0131ld\u0131z","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3034-9196","authenticated-orcid":false,"given":"Ece Meltem","family":"Yal\u00e7\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2917-2469","authenticated-orcid":false,"given":"Abdurrahman","family":"Akg\u00fcn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3028-6068","authenticated-orcid":false,"given":"Mustafa","family":"Ko\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"issue":"2","key":"3108_CR1","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/ana.25287","volume":"84","author":"EMC Hamilton","year":"2018","unstructured":"Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Louren\u00e7o CM, Naidu S, et al (2018) Natural history of vanishing white matter. Ann Neurol 84(2):274\u2013288. https:\/\/doi.org\/10.1002\/ana.25287","journal-title":"Ann Neurol"},{"key":"3108_CR2","doi-asserted-by":"publisher","first-page":"e657","DOI":"10.1212\/NXG.0000000000000657","volume":"8","author":"MS n der Knaap","year":"2022","unstructured":"van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krageloh-Mann I, Bertini E et al (2022) Therapy trial design in vanishing white matter: An expert consortium opinion. Neurol Genet 8:e657. https:\/\/doi.org\/10.1212\/NXG.0000000000000657","journal-title":"Neurol Genet"},{"issue":"6","key":"3108_CR3","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1111\/cns.13107","volume":"25","author":"L Zhou","year":"2019","unstructured":"Zhou L, Li P, Chen N, Dai LF, Gao K, Liu YN et al (2019) Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction. CNS Neurosci Ther 25(6):759\u2013771. https:\/\/doi.org\/10.1111\/cns.13107","journal-title":"CNS Neurosci Ther"},{"key":"3108_CR4","doi-asserted-by":"publisher","first-page":"1643040","DOI":"10.3389\/fped.2025.1643040","volume":"13","author":"E Oron-Lexner","year":"2025","unstructured":"Oron-Lexner E, Ditlev Larsen B, Schelde-Olesen MT (2025) Case report: new genetic variant and widely different phenotypes observed in twins with vanishing white matter disease. Front Pediatr 13:1643040. https:\/\/doi.org\/10.3389\/fped.2025.1643040","journal-title":"Front Pediatr"},{"issue":"7","key":"3108_CR5","doi-asserted-by":"publisher","first-page":"e64497","DOI":"10.7759\/cureus.64497","volume":"16","author":"M Escobar-Pacheco","year":"2024","unstructured":"Escobar-Pacheco M, Luna-\u00c1lvarez M, D\u00e1vila-Ortiz de Montellano D, Yescas-G\u00f3mez P, Ram\u00edrez-Garc\u00eda M\u00c1 (2024) Ovarioleukodystrophy due to EIF2B mutations : a systematic review and case report. Cureus 16(7):e64497. https:\/\/doi.org\/10.7759\/cureus.64497","journal-title":"Cureus"},{"key":"3108_CR6","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/j.clineuro.2018.06.024","volume":"171","author":"MS n der Knaap","year":"2018","unstructured":"van der Knaap MS, Abbink TEM (2018) Ovarioleukodystrophy: vanishing white matter versus AARS2-related ovarioleukodystrophy. Clin Neurol Neurosurg 171:195. https:\/\/doi.org\/10.1016\/j.clineuro.2018.06.024","journal-title":"Clin Neurol Neurosurg"},{"issue":"1","key":"3108_CR7","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1186\/s12883-024-03721-0","volume":"24","author":"M Gui","year":"2024","unstructured":"Gui M, He M, Qin L (2024) Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants. BMC Neurol 24(1):201. https:\/\/doi.org\/10.1186\/s12883-024-03721-0","journal-title":"BMC Neurol"},{"issue":"5","key":"3108_CR8","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1017\/cjn.2021.202","volume":"49","author":"S Shivaram","year":"2022","unstructured":"Shivaram S, Nagappa M, Seshagiri DV, Saini J, Govindaraj P, Sinha S et al (2022) Leukodystrophy due to eIF2B mutations in adults. Can J Neurol Sci 49(5):708\u2013712. https:\/\/doi.org\/10.1017\/cjn.2021.202","journal-title":"Can J Neurol Sci"},{"issue":"1","key":"3108_CR9","doi-asserted-by":"publisher","first-page":"191","DOI":"10.25259\/JNRP-2022-2-48","volume":"14","author":"S Goyal","year":"2023","unstructured":"Goyal S, Mudabbir M, Taallapalli AVR, Nashi S, Kulkarni GB (2023) Vanishing white matter leukodystrophy due to novel EIF2B4 mutation in an adult female. J Neurosci Rural Pract 14(1):191\u2013193. https:\/\/doi.org\/10.25259\/JNRP-2022-2-48","journal-title":"J Neurosci Rural Pract"},{"issue":"1","key":"3108_CR10","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1186\/s12888-020-02551-x","volume":"20","author":"CS Ho","year":"2020","unstructured":"Ho CS, Mangelsdorf S, Walterfang M (2020) The disappearance of white matter in an adult-onset disease: A case report. BMC Psychiatry 20(1):137. https:\/\/doi.org\/10.1186\/s12888-020-02551-x","journal-title":"BMC Psychiatry"},{"issue":"3","key":"3108_CR11","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1148\/radiol.2021210110","volume":"300","author":"MD Stellingwerff","year":"2021","unstructured":"Stellingwerff MD, Al-Saady ML, Van de Brug T, Barkhof F, Pouwels PJW, Van der Knaap MS (2021) MRI natural history of leukodystrophy vanishing white matter. Radiology 300(3):671\u2013680. https:\/\/doi.org\/10.1148\/radiol.2021210110","journal-title":"Radiology"},{"issue":"11","key":"3108_CR12","doi-asserted-by":"publisher","first-page":"e214320","DOI":"10.1212\/WNL.0000000000214320","volume":"105","author":"RJ van Voorst","year":"2025","unstructured":"van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Kr\u00e4geloh-Mann I, Bernard G et al (2025) Consensus-Based Expert Recommendations for the Diagnosis and Clinical Management of Vanishing White Matter. Neurology 105(11):e214320. https:\/\/doi.org\/10.1212\/WNL.0000000000214320","journal-title":"Neurology"},{"key":"3108_CR13","doi-asserted-by":"publisher","first-page":"902261","DOI":"10.3389\/fcell.2022.902261","volume":"10","author":"JC Nowacki","year":"2022","unstructured":"Nowacki JC, Fields AM, Fu MM (2022) Emerging cellular themes in leukodystrophies. Front Cell Dev Biol 10:902261. https:\/\/doi.org\/10.3389\/fcell.2022.902261","journal-title":"Front Cell Dev Biol"},{"issue":"1","key":"3108_CR14","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s12883-024-04018-y","volume":"25","author":"BKA Douden","year":"2025","unstructured":"Douden BKA, Abufara YMA, Aldrabeeh MFA, Tell NRM, Abudaya I (2025) A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder expressing homozygous EIF2B3 and PRKN pathogenic variants. BMC Neurol 25(1):7. https:\/\/doi.org\/10.1186\/s12883-024-04018-y","journal-title":"BMC Neurol"},{"issue":"1","key":"3108_CR15","doi-asserted-by":"publisher","first-page":"78","DOI":"10.4274\/tpa.1075","volume":"48","author":"S G\u00fcler","year":"2013","unstructured":"G\u00fcler S, Y\u00fcksel A, I\u015fcan A, I\u015f\u0131k I, Tatl\u0131 B (2013) Vanishing white matter leukodystrophy: a rare case report (Kaybolan beyaz madde hastal\u0131\u011f\u0131; nadir bir olgu). Turk Pediatri Ars 48(1):78\u201379","journal-title":"Turk Pediatri Ars"},{"issue":"5","key":"3108_CR16","doi-asserted-by":"publisher","first-page":"e200293","DOI":"10.1212\/NXG.0000000000200293","volume":"11","author":"T Kakumoto","year":"2025","unstructured":"Kakumoto T, Matsukawa T, Tokimura R, Tsuboyama Y, Hayashi Y, Mitsutake A et al (2025) Vanishing white matter disease with EIF2B2 c.254\u2009>\u2009A variant: Mild clinical and MRI findings. Neurol Genet 11(5):e200293. https:\/\/doi.org\/10.1212\/NXG.0000000000200293","journal-title":"Neurol Genet"},{"issue":"6","key":"3108_CR17","doi-asserted-by":"publisher","first-page":"e200324","DOI":"10.1212\/NXG.0000000000200324","volume":"11","author":"T Kakumoto","year":"2025","unstructured":"Kakumoto T, Matsukawa T, Tokimura R, Tsuboyama Y, Hayashi Y, Mitsutake A, Iwata A, Maeda MH, Shimizu J, Gonoi W, Ishiura H, Mitsui J, Tsuji S, Toda T (2025) Erratum: Vanishing white matter disease with EIF2B2 c.254 > A variant. Neurol Genet 11(6):e200324. https:\/\/doi.org\/10.1212\/NXG.0000000000200324","journal-title":"Neurol Genet"},{"issue":"8","key":"3108_CR18","doi-asserted-by":"publisher","first-page":"4087","DOI":"10.1097\/MS9.0000000000001017","volume":"85","author":"A Kami","year":"2023","unstructured":"Kami A, Langari A, Gharib MH, Ghelichi-Ghojogh M, Hosseini PS, Hosseini SA (2023) Leukoencephalopathy with vanishing white matter: a case report. Ann Med Surg (Lond) 85(8):4087\u20134091. https:\/\/doi.org\/10.1097\/MS9.0000000000001017","journal-title":"Ann Med Surg (Lond)"},{"issue":"1","key":"3108_CR19","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1007\/s00415-023-11996-5","volume":"271","author":"G Ceravolo","year":"2024","unstructured":"Ceravolo G, Zhelcheska K, Squadrito V, Pellerin D, Gitto E, Hartley L et al (2024) Update on leukodystrophies and development of clinical trials. J Neurol 271(1):593\u2013605. https:\/\/doi.org\/10.1007\/s00415-023-11996-5","journal-title":"J Neurol"},{"key":"3108_CR20","doi-asserted-by":"publisher","first-page":"100876","DOI":"10.1016\/j.spen.2021.100876","volume":"37","author":"AM Bradbury","year":"2021","unstructured":"Bradbury AM, Ream MA (2021) Recent advancements in the diagnosis and treatment of leukodystrophy. Semin Pediatr Neurol 37:100876. https:\/\/doi.org\/10.1016\/j.spen.2021.100876","journal-title":"Semin Pediatr Neurol"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-026-03108-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13760-026-03108-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-026-03108-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:59:54Z","timestamp":1793156394000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13760-026-03108-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,9]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["3108"],"URL":"https:\/\/doi.org\/10.1007\/s13760-026-03108-7","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"value":"0300-9009","type":"print"},{"value":"2240-2993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,9]]},"assertion":[{"value":"1 June 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study protocol was approved by the local Non-Interventional Clinical Research Ethics Committee on December 11, 2025 (Session No. 2025\/18\u201334).","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}}]}}