{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T09:38:40Z","timestamp":1771666720681,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["394950"],"award-info":[{"award-number":["394950"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1007\/s12031-021-01810-0","type":"journal-article","created":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T14:03:05Z","timestamp":1615298585000},"page":"2405-2414","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival"],"prefix":"10.1007","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1453-4455","authenticated-orcid":false,"given":"Mehdi","family":"Khorrami","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3543-9131","authenticated-orcid":false,"given":"Erfan","family":"Khorram","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0399-6531","authenticated-orcid":false,"given":"Omid","family":"Yaghini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4047-4879","authenticated-orcid":false,"given":"Mojgan","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6190-6701","authenticated-orcid":false,"given":"Arash","family":"Hejazifar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8633-085X","authenticated-orcid":false,"given":"Omid","family":"Iravani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8292-2396","authenticated-orcid":false,"given":"Vida","family":"Yazdani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5156-4613","authenticated-orcid":false,"given":"Maryam","family":"Riahinezhad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1981-1340","authenticated-orcid":false,"given":"Majid","family":"Kheirollahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,9]]},"reference":[{"key":"1810_CR1","doi-asserted-by":"crossref","unstructured":"Abbink TE, Wisse LE, Wang X, Proud CG (2018) Role of Eukaryotic initiation factor eIF2B in vanishing white matter disease. The Oxford Handbook of Neuronal Protein Synthesis","DOI":"10.1093\/oxfordhb\/9780190686307.013.7"},{"issue":"3","key":"1810_CR2","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1176\/appi.neuropsych.18110279","volume":"31","author":"A Accogli","year":"2019","unstructured":"Accogli A, Brais B, Tampieri D, La Piana R (2019) Long-standing psychiatric features as the only clinical presentation of vanishing white matter disease. J Neuropsychiatry Clin Neurosci 31(3):276\u2013279","journal-title":"J Neuropsychiatry Clin Neurosci"},{"issue":"2","key":"1810_CR3","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.gene.2011.12.047","volume":"496","author":"A Alsalem","year":"2012","unstructured":"Alsalem A, Shaheen R, Alkuraya FS (2012) Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. Gene 496(2):141\u2013143","journal-title":"Gene"},{"issue":"10","key":"1810_CR4","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1097\/NEN.0b013e3181f2eafa","volume":"69","author":"M Bugiani","year":"2010","unstructured":"Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS (2010) Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol 69(10):987\u2013996","journal-title":"J Neuropathol Exp Neurol"},{"key":"1810_CR5","doi-asserted-by":"crossref","unstructured":"Bugiani M, van der Knaap MS (2017) Childhood white matter disorders: much more than just diseases of myelin. Springer","DOI":"10.1007\/s00401-017-1750-6"},{"issue":"3A","key":"1810_CR6","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1590\/S0004-282X2008000400022","volume":"66","author":"LMDC Fontenelle","year":"2008","unstructured":"Fontenelle LMDC, Scheper GC, Brand\u00e3o L, Van der Knaap MS (2008) Atypical presentation of vanishing white matter disease. Arq Neuropsiquiatr 66(3A):549\u2013551","journal-title":"Arq Neuropsiquiatr"},{"issue":"2","key":"1810_CR7","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1007\/s00381-019-04334-6","volume":"36","author":"G G\u00fcng\u00f6r","year":"2020","unstructured":"G\u00fcng\u00f6r G, G\u00fcng\u00f6r O, \u00c7akmakl\u0131 S, Gen\u00e7 HM, \u0130nce H, Ye\u015fil G et al (2020) Vanishing white matter disease with different faces. Childs Nerv Syst 36(2):353\u2013361","journal-title":"Childs Nerv Syst"},{"issue":"2","key":"1810_CR8","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/ana.25287","volume":"84","author":"EM Hamilton","year":"2018","unstructured":"Hamilton EM, van der Lei HD, Vermeulen G, Gerver JA, Louren\u00e7o CM, Naidu S et al (2018) Natural history of vanishing white matter. Ann Neurol 84(2):274\u2013288","journal-title":"Ann Neurol"},{"issue":"1","key":"1810_CR9","doi-asserted-by":"publisher","first-page":"1","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):1\u20134","journal-title":"BMC Psychiatry"},{"issue":"06","key":"1810_CR10","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1055\/s-0036-1588020","volume":"47","author":"SH Kevelam","year":"2016","unstructured":"Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R et al (2016) Update on leukodystrophies: a historical perspective and adapted definition. Neuropediatrics 47(06):349\u2013354","journal-title":"Neuropediatrics"},{"issue":"2","key":"1810_CR11","first-page":"94","volume":"14","author":"W K\u00f6hler","year":"2018","unstructured":"K\u00f6hler W, Curiel J, Vanderver A (2018) Adulthood leukodystrophies. Nature Reviews. Neurology 14(2):94","journal-title":"Neurology"},{"issue":"4","key":"1810_CR12","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/ng764","volume":"29","author":"PA Leegwater","year":"2001","unstructured":"Leegwater PA, Vermeulen G, K\u00f6nst AA, Naidu S, Mulders J, Visser A et al (2001) Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 29(4):383\u2013388","journal-title":"Nat Genet"},{"issue":"5","key":"1810_CR13","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1093\/brain\/awx045","volume":"140","author":"DS Lynch","year":"2017","unstructured":"Lynch DS, de Paiva ARB, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L et al (2017) Clinical and genetic characterization of leukoencephalopathies in adults. Brain 140(5):1204\u20131211","journal-title":"Brain"},{"issue":"6","key":"1810_CR14","doi-asserted-by":"publisher","first-page":"1298","DOI":"10.1042\/BST0371298","volume":"37","author":"GD Pavitt","year":"2009","unstructured":"Pavitt GD, Proud CG (2009) Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease. Biochem Soc Trans 37(6):1298\u20131310","journal-title":"Biochem Soc Trans"},{"issue":"5","key":"1810_CR15","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 (2015) 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 17(5):405\u2013423","journal-title":"Genet Med"},{"issue":"4","key":"1810_CR16","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/s10072-006-0683-y","volume":"27","author":"O Scali","year":"2006","unstructured":"Scali O, Di Perri C, Federico A (2006) The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci 27(4):271\u2013277","journal-title":"Neurol Sci"},{"issue":"4","key":"1810_CR17","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.molmed.2006.02.006","volume":"12","author":"GC Scheper","year":"2006","unstructured":"Scheper GC, Proud CG, van der Knaap MS (2006) Defective translation initiation causes vanishing of cerebral white matter. Trends Mol Med 12(4):159\u2013166","journal-title":"Trends Mol Med"},{"issue":"3","key":"1810_CR18","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/ana.410350314","volume":"35","author":"R Schiffmann","year":"1994","unstructured":"Schiffmann R, Moller JR, Trapp BD, Shih HHL, Farrer RG, Katz DA et al (1994) Childhood ataxia with diffuse central nervous system hypomyelination. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society 35(3):331\u2013340","journal-title":"Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society"},{"issue":"10","key":"1810_CR19","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1177\/0883073817712588","volume":"32","author":"H Song","year":"2017","unstructured":"Song H, Haeri S, Vogel H, Van Der Knaap M, Van Haren K (2017) Postmortem whole exome sequencing identifies novel EIF2B3 mutation with prenatal phenotype in 2 siblings. J Child Neurol 32(10):867\u2013870","journal-title":"J Child Neurol"},{"issue":"6","key":"1810_CR20","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1016\/j.braindev.2014.10.002","volume":"37","author":"K Takano","year":"2015","unstructured":"Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M et al (2015) A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev 37(6):638\u2013642","journal-title":"Brain Dev"},{"key":"1810_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s40478-020-00929-2","volume":"8","author":"A Trimouille","year":"2020","unstructured":"Trimouille A, Marguet F, Sauvestre F, Lasseaux E, Pelluard F, Martin-N\u00e9grier ML et al (2020) Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. Acta Neuropathol Commun 8:1\u20137","journal-title":"Acta Neuropathol Commun"},{"key":"1810_CR22","unstructured":"Van der Knaap M, Bugiani M, Boor I, Proud C, Scheper G (2010) Vanishing white matter. Neurogenetics. (Part 28)"},{"issue":"3","key":"1810_CR23","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s00401-017-1739-1","volume":"134","author":"MS van der Knaap","year":"2017","unstructured":"van der Knaap MS, Bugiani M (2017) Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol 134(3):351\u2013382","journal-title":"Acta Neuropathol"},{"issue":"2","key":"1810_CR24","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1002\/ana.10112","volume":"51","author":"MS Van Der Knaap","year":"2002","unstructured":"Van Der Knaap MS, Leegwater PA, K\u00f6nst AA, Visser A, Naidu S, Oudejans CB et al (2002) Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society 51(2):264\u2013270","journal-title":"Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society"},{"issue":"5","key":"1810_CR25","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/S1474-4422(06)70440-9","volume":"5","author":"MS van der Knaap","year":"2006","unstructured":"van der Knaap MS, Pronk JC, Scheper GC (2006) Vanishing white matter disease. Lancet Neurol 5(5):413\u2013423","journal-title":"Lancet Neurol"},{"issue":"10","key":"1810_CR26","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1016\/S1474-4422(19)30143-7","volume":"18","author":"MS van der Knaap","year":"2019","unstructured":"van der Knaap MS, Schiffmann R, Mochel F, Wolf NI (2019) Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol 18(10):962\u2013972","journal-title":"Lancet Neurol"},{"issue":"5","key":"1810_CR27","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1086\/379524","volume":"73","author":"MS Van Der Knaap","year":"2003","unstructured":"Van Der Knaap MS, Van Berkel CG, Herms J, Van Coster R, Baethmann M, Naidu S et al (2003) eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 73(5):1199\u20131207","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1810_CR28","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1186\/s12883-019-1429-9","volume":"19","author":"C Wei","year":"2019","unstructured":"Wei C, Qin Q, Chen F, Zhou A, Wang F, Zuo X et al (2019) Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia. BMC Neurol 19(1):203","journal-title":"BMC Neurol"},{"issue":"4","key":"1810_CR29","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1002\/ajmg.a.36961","volume":"167","author":"AL Woody","year":"2015","unstructured":"Woody AL, Hsieh DT, McIver HK, Thomas LP, Rohena L (2015) Infantile onset vanishing white matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism. Am J Med Genet A 167(4):826\u2013830","journal-title":"Am J Med Genet A"},{"issue":"2","key":"1810_CR30","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1038\/jhg.2008.10","volume":"54","author":"Y Wu","year":"2009","unstructured":"Wu Y, Pan Y, Du L, Wang J, Gu Q, Gao Z et al (2009) Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet 54(2):74\u201377","journal-title":"J Hum Genet"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-021-01810-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-021-01810-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-021-01810-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T00:19:01Z","timestamp":1636676341000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-021-01810-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,9]]},"references-count":30,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["1810"],"URL":"https:\/\/doi.org\/10.1007\/s12031-021-01810-0","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,9]]},"assertion":[{"value":"15 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethical Committee of the Isfahan University of Medical Science (IR.MUI.MED.REC.1398.186).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from the legal guardian of patients (parents).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Written informed consent for publication of clinical details and images (Fig.\u00a0 and Supplementary Fig. ) was obtained from the patient legal guardian.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare that they have no conflict of interest.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}