{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T16:08:55Z","timestamp":1772640535460,"version":"3.50.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,10,11]]},"DOI":"10.7759\/cureus.30177","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T13:23:02Z","timestamp":1665494582000},"source":"Crossref","is-referenced-by-count":3,"title":["Adult Onset Vanishing White Matter Disease: A Rare Case Report"],"prefix":"10.7759","author":[{"given":"Govind","family":"Nagdev","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajeshwari S","family":"Vhora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gajanan","family":"Chavan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaurav","family":"Sahu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073817751804","article-title":"The first report of relative incidence of inherited white matter disorders in an Asian country based on an Iranian Bioregistry System","volume":"33","author":"Ashrafi MR","year":"2018","unstructured":"Ashrafi MR, Rezaei Z, Heidari M, et al.. The first report of relative incidence of inherited white matter disorders in an Asian country based on an Iranian Bioregistry System. J Child Neurol. 2018, 33:255-9. 10.1177\/0883073817751804","journal-title":"J Child Neurol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.5535\/arm.2019.43.2.234","article-title":"Correlation between vanishing white matter disease and novel heterozygous eif2b3 variants using next-generation sequencing: A case report","volume":"43","author":"Hyun SE","year":"2019","unstructured":"Hyun SE, Choi BS, Jang JH, Jeon I, Jang DH, Ryu JS. Correlation between vanishing white matter disease and novel heterozygous eif2b3 variants using next-generation sequencing: A case report. Ann Rehabil Med. 2019, 43:234-8. 10.5535\/arm.2019.43.2.234","journal-title":"Ann Rehabil Med"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1714717","article-title":"Profile of Indian children with childhood ataxia and central nervous system hypomyelination\/vanishing white matter disease: A single center experience from southern India","volume":"10","author":"Gowda VK","year":"2021","unstructured":"Gowda VK, Srinivasan VM, Nagarajan B, Bhat M, Shivappa SK, Benakappa N. Profile of Indian children with childhood ataxia and central nervous system hypomyelination\/vanishing white matter disease: A single center experience from southern India. J Pediatr Genet. 2021, 10:205-12. 10.1055\/s-0040-1714717","journal-title":"J Pediatr Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.179975","article-title":"The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India","volume":"19","author":"Gulati S","year":"2016","unstructured":"Gulati S, Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M. The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India. Ann Indian Acad Neurol. 2016, 19:332-8. 10.4103\/0972-2327.179975","journal-title":"Ann Indian Acad Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.27662","article-title":"Vanishing white matter disease: Phenotypic, MR imaging and 1H spectroscopic observations","volume":"9","author":"Ravishankar S","year":"2006","unstructured":"Ravishankar S, Sinha S, Taly A, et al.. Vanishing white matter disease: Phenotypic, MR imaging and 1H spectroscopic observations. Ann Indian Acad Neurol. 2006, 9:172. 10.4103\/0972-2327.27662","journal-title":"Ann Indian Acad Neurol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp171","article-title":"Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases","volume":"132","author":"Labauge P","year":"2009","unstructured":"Labauge P, Horzinski L, Ayrignac X, et al.. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain. 2009, 132:2161-9. 10.1093\/brain\/awp171","journal-title":"Brain"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2021.202","article-title":"Leukodystrophy due to eIF2B mutations in adults","volume":"49","author":"Shivaram S","year":"2022","unstructured":"Shivaram S, Nagappa M, Seshagiri DV, et al.. Leukodystrophy due to eIF2B mutations in adults. Can J Neurol Sci. 2022, 49:708-12. 10.1017\/cjn.2021.202","journal-title":"Can J Neurol Sci"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10339","article-title":"Cree leukoencephalopathy and CACH\/VWM disease are allelic at the EIF2B5 locus","volume":"52","author":"Fogli A","year":"2002","unstructured":"Fogli A, Wong K, Eymard-Pierre E, et al.. Cree leukoencephalopathy and CACH\/VWM disease are allelic at the EIF2B5 locus. Ann Neurol. 2002, 52:506-10. 10.1002\/ana.10339","journal-title":"Ann Neurol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(02)00642-6","article-title":"Gene-specific regulation by general translation factors","volume":"108","author":"Dever TE","year":"2002","unstructured":"Dever TE. Gene-specific regulation by general translation factors. Cell. 2002, 108:545-556. 10.1016\/s0092-8674(02)00642-6","journal-title":"Cell"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-56688-2_4","article-title":"Regulation of eukaryotic initiation factor eIF2B","volume":"26","author":"Proud CG","year":"2001","unstructured":"Proud CG. Regulation of eukaryotic initiation factor eIF2B. Prog Mol Subcell Biol. 2001, 26:95-114. 10.1007\/978-3-642-56688-2_4","journal-title":"Prog Mol Subcell Biol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1128\/MMBR.64.2.239-280.2000","article-title":"Translational control of viral gene expression in eukaryotes","volume":"64","author":"Gale M Jr","year":"2000","unstructured":"Gale M Jr, Tan SL, Katze MG. Translational control of viral gene expression in eukaryotes. Microbiol Mol Biol Rev. 2000, 64:239-80. 10.1128\/MMBR.64.2.239-280.2000","journal-title":"Microbiol Mol Biol Rev"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.213.1.r99se01121","article-title":"Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach","volume":"213","author":"van der Knaap MS","year":"1999","unstructured":"van der Knaap MS, Breiter SN, Naidu S, Hart AA, Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 1999, 213:121-33. 10.1148\/radiology.213.1.r99se01121","journal-title":"Radiology"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.48.4.845","article-title":"A new leukoencephalopathy with vanishing white matter","volume":"48","author":"van der Knaap MS","year":"1997","unstructured":"van der Knaap MS, Barth PG, Gabre\u00ebls FJ, et al.. A new leukoencephalopathy with vanishing white matter. Neurology. 1997, 48:845-55. 10.1212\/wnl.48.4.845","journal-title":"Neurology"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20418","article-title":"Fright is a provoking factor in vanishing white matter disease","volume":"57","author":"Vermeulen G","year":"2005","unstructured":"Vermeulen G, Seidl R, Mercimek-Mahmutoglu S, Rotteveel JJ, Scheper GC, van der Knaap MS. Fright is a provoking factor in vanishing white matter disease. Ann Neurol. 2005, 57:560-3. 10.1002\/ana.20418","journal-title":"Ann Neurol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1992.72.4.1063","article-title":"Mammalian stress response: cell physiology, structure\/function of stress proteins, and implications for medicine and disease","volume":"72","author":"Welch WJ","year":"1992","unstructured":"Welch WJ. Mammalian stress response: cell physiology, structure\/function of stress proteins, and implications for medicine and disease. Physiol Rev. 1992, 72:1063-81. 10.1152\/physrev.1992.72.4.1063","journal-title":"Physiol Rev"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1176\/appi.neuropsych.18110279","article-title":"Long-standing psychiatric features as the only clinical presentation of vanishing white matter disease","volume":"31","author":"Accogli A","unstructured":"Accogli A, Brais B, Tampieri D, La Piana R. Long-standing psychiatric features as the only clinical presentation of vanishing white matter disease. J Neuropsychiatry Clin Neurosci. Summ, 31:276-9. 10.1176\/appi.neuropsych.18110279","journal-title":"J Neuropsychiatry Clin Neurosci"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.156091","article-title":"Leukoencephalopathy with vanishing white matter presenting with presenile dementia","volume":"80","author":"Gascon-Bayarri J","year":"2009","unstructured":"Gascon-Bayarri J, Campdelacreu J, S\u00e1nchez-Casta\u00f1eda C, et al.. Leukoencephalopathy with vanishing white matter presenting with presenile dementia. J Neurol Neurosurg Psychiatry. 2009, 80:810-1. 10.1136\/jnnp.2008.156091","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(06)70440-9","article-title":"Vanishing white matter disease","volume":"5(5)","author":"Van der Knaap MS","year":"2006","unstructured":"Van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006, 5(5):413-423. 10.1016\/s1474-4422(06)70440-9","journal-title":"Lancet Neurol"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1086\/379524","article-title":"eIF2B-related disorders: antenatal onset and involvement of multiple organs","volume":"73","author":"van der Knaap MS","year":"2003","unstructured":"van der Knaap MS, van Berkel CG, Herms J, et al.. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet. 2003, 73:1199-207. 10.1086\/379524","journal-title":"Am J Hum Genet"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000123118.86746.fc","article-title":"Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults","volume":"62","author":"van der Knaap MS","year":"2004","unstructured":"van der Knaap MS, Leegwater PA, van Berkel CG, et al.. Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology. 2004, 62:1598-600. 10.1212\/01.wnl.0000123118.86746.fc","journal-title":"Neurology"},{"key":"ref21","article-title":"Vanishing white matter disease: Clinical and imaging description of seven adult patients","volume":"15","author":"Tom\u00e1s J","year":"2015","unstructured":"Tom\u00e1s J, Gouveia A, Galego O, et al.. Vanishing white matter disease: Clinical and imaging description of seven adult patients. Sinapse. 2015, 15:13.","journal-title":"Sinapse"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1259","article-title":"Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia","volume":"50","author":"Prass K","year":"2001","unstructured":"Prass K, Br\u00fcck W, Schr\u00f6der NW, et al.. Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol. 2001, 50:665-8. 10.1002\/ana.1259","journal-title":"Ann Neurol"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25287","article-title":"Natural history of vanishing white matter","volume":"84","author":"Hamilton EM","year":"2018","unstructured":"Hamilton EM, van der Lei HD, Vermeulen G, et al.. Natural history of vanishing white matter. Ann Neurol. 2018, 84:274-88. 10.1002\/ana.25287","journal-title":"Ann Neurol"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.12.433","article-title":"Consensus statement on preventive and symptomatic care of leukodystrophy patients","volume":"114","author":"Van Haren K","year":"2015","unstructured":"Van Haren K, Bonkowsky JL, Bernard G, et al.. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab. 2015, 114:516-26. 10.1016\/j.ymgme.2014.12.433","journal-title":"Mol Genet Metab"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000000338","article-title":"Genetic leukoencephalopathies in adults","volume":"22","author":"Vanderver A","year":"2016","unstructured":"Vanderver A. Genetic leukoencephalopathies in adults. Continuum (Minneap Minn). 2016, 22:916-42. 10.1212\/CON.0000000000000338","journal-title":"Continuum (Minneap Minn)"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-006-0683-y","article-title":"The spectrum of mutations for the diagnosis of vanishing white matter disease","volume":"27","author":"Scali O","year":"2006","unstructured":"Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci. 2006, 27:271-7. 10.1007\/s10072-006-0683-y","journal-title":"Neurol Sci"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350314","article-title":"Childhood ataxia with diffuse central nervous system hypomyelination","volume":"35","author":"Schiffmann R","year":"1994","unstructured":"Schiffmann R, Moller JR, Trapp BD, et al.. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994, 35:331-40. 10.1002\/ana.410350314","journal-title":"Ann Neurol"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.51.2.540","article-title":"Phenotypic variation in leukoencephalopathy with vanishing white matter","volume":"51","author":"van der Knaap MS","year":"1998","unstructured":"van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology. 1998, 51:540-7. 10.1212\/wnl.51.2.540","journal-title":"Neurology"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1111\/j.1552-6569.2011.00693.x","article-title":"Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings","volume":"22","author":"Finsterer J","year":"2012","unstructured":"Finsterer J, Zarrouk Mahjoub S. Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings. J Neuroimaging. 2012, 22:e1-11. 10.1111\/j.1552-6569.2011.00693.x","journal-title":"J Neuroimaging"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/117485-adult-onset-vanishing-white-matter-disease-a-rare-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:49:36Z","timestamp":1707508176000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/117485-adult-onset-vanishing-white-matter-disease-a-rare-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,11]]},"references-count":29,"URL":"https:\/\/doi.org\/10.7759\/cureus.30177","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2022,10,11]]}}}