Hanson FM, Hodgson RE, de Oliveira MIR et al (2022) Regulation and function of elF2B in neurological and metabolic disorders. Biosci Rep 42:BSR20211699. https://doi.org/10.1042/BSR20211699

Article  CAS  PubMed  PubMed Central  Google Scholar 

van der Knaap MS, Scheper GC (2011) Not all cystic leukoencephalopathies are “vanishing white matter.” Mol Genet Metab 103:413. https://doi.org/10.1016/j.ymgme.2011.04.011. (author reply 414)

Article  CAS  PubMed  Google Scholar 

van der Knaap MS, Pronk JC, Scheper GC (2006) Vanishing white matter disease. Lancet Neurol 5:413–423. https://doi.org/10.1016/S1474-4422(06)70440-9

Article  PubMed  Google Scholar 

Prass K, Brück W, Schröder NW et al (2001) Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol 50:665–668. https://doi.org/10.1002/ana.1259

Article  CAS  PubMed  Google Scholar 

Biancheri R, Rossi A, Di Rocco M et al (2003) Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 61:1818–1819. https://doi.org/10.1212/01.wnl.0000098994.35677.3c

Article  CAS  PubMed  Google Scholar 

Ohtake H, Shimohata T, Terajima K et al (2004) Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 62:1601–1603. https://doi.org/10.1212/01.wnl.0000123117.11264.0e

Article  CAS  PubMed  Google Scholar 

van der Knaap MS, Leegwater PAJ, van Berkel CGM et al (2004) Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 62:1598–1600. https://doi.org/10.1212/01.wnl.0000123118.86746.fc

Article  PubMed  Google Scholar 

Labauge P, Horzinski L, Ayrignac X et al (2009) Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 132:2161–2169. https://doi.org/10.1093/brain/awp171

Article  PubMed  Google Scholar 

Ghezzi L, Scarpini E, Rango M et al (2012) A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation. Neurology 79:2077–2078. https://doi.org/10.1212/WNL.0b013e3182749edc

Article  PubMed  Google Scholar 

La Piana R, Vanderver A, van der Knaap M et al (2012) Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol 69:765–768. https://doi.org/10.1001/archneurol.2011.1942

Article  PubMed  PubMed Central  Google Scholar 

Hamilton EMC, van der Lei HDW, Vermeulen G et al (2018) Natural history of vanishing white matter. Ann Neurol 84:274–288. https://doi.org/10.1002/ana.25287

Article  PubMed  PubMed Central  Google Scholar 

Ren Y, Yu X, Chen B et al (2022) Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients. Neurol Sci 43:4961–4977. https://doi.org/10.1007/s10072-022-06011-0

Article  PubMed  Google Scholar 

Tomás J, Gouveia A, Galego O et al (2015) Vanishing white matter disease: clinical and imaging description of seven adult patients. Sinapse 15:13

Google Scholar 

Di Bella D, Magri S, Benzoni C et al (2021) Hypomyelinating leukodystrophies in adults: clinical and genetic features. Eur J Neurol 28:934–944. https://doi.org/10.1111/ene.14646

Article  PubMed  Google Scholar 

Synofzik M, Smets K, Mallaret M et al (2016) SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain 139:1378–1393. https://doi.org/10.1093/brain/aww079

Article  PubMed  PubMed Central  Google Scholar 

Klambauer G, Schwarzbauer K, Mayr A et al (2012) cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. Nucleic Acids Res 40:e69. https://doi.org/10.1093/nar/gks003

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S 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 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Shimada S, Miya K, Oda N et al (2012) An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease. Am J Med Genet A 158A:1771–1777. https://doi.org/10.1002/ajmg.a.35431

Article  CAS  PubMed  Google Scholar 

Ramaswamy V, Chan AK, Kolski HK (2006) Vanishing white matter disease with periodic (paroxysmal) hemiparesis. Pediatr Neurol 35:65–68. https://doi.org/10.1016/j.pediatrneurol.2005.12.014

Article  PubMed  Google Scholar 

Trevisan L, Grazzini M, Cianflone A et al (2021) An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report. Neurocase 27:452–456. https://doi.org/10.1080/13554794.2021.1999984

Article  PubMed  Google Scholar 

Mochel F, Schiffmann R, Steenweg ME et al (2012) Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol 72:433–441. https://doi.org/10.1002/ana.23598

Article  CAS  PubMed  PubMed Central  Google Scholar 

Finnsson J, Sundblom J, Dahl N et al (2015) LMNB1-related autosomal-dominant leukodystrophy: clinical and radiological course. Ann Neurol 78:412–425. https://doi.org/10.1002/ana.24452

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rouaud T, Labauge P, Tournier Lasserve E et al (2010) Acute urinary retention due to a novel collagen COL4A1 mutation. Neurology 75:747–749. https://doi.org/10.1212/WNL.0b013e3181eee440

Article  CAS  PubMed  Google Scholar 

Potic A, Popovic V, Ostojic J et al (2015) Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. BMC Neurol 15:22. https://doi.org/10.1186/s12883-015-0283-7

Article  PubMed  PubMed Central  Google Scholar 

Nakamura M, Ueki S, Kubo M et al (2018) Two cases of sporadic adult-onset neuronal intranuclear inclusion disease preceded by urinary disturbance for many years. J Neurol Sci 392:89–93. https://doi.org/10.1016/j.jns.2018.07.012

Article  PubMed  Google Scholar 

van der Lei HDW, van Berkel CGM, van Wieringen WN et al (2010) Genotype-phenotype correlation in vanishing white matter disease. Neurology 75:1555–1559. https://doi.org/10.1212/WNL.0b013e3181f962ae

Article  PubMed  Google Scholar 

Ayrignac X, Boutiere C, Carra-Dalliere C, Labauge P (2016) Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies. J Neurol 263:2361–2368. https://doi.org/10.1007/s00415-016-8131-2

Article  CAS  PubMed  Google Scholar 

Stellingwerff MD, Al-Saady ML, van de Brug T et al (2021) MRI natural history of the leukodystrophy vanishing white matter. Radiology 300:671–680. https://doi.org/10.1148/radiol.2021210110

Article  PubMed  Google Scholar 

Fogli A, Schiffmann R, Bertini E et al (2004) The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 62:1509–1517. https://doi.org/10.1212/01.wnl.0000123259.67815.db

Article  CAS  PubMed  Google Scholar 

Zhang H, Dai L, Chen N et al (2015) Fifteen novel EIF2B1–5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. PLoS ONE 10:e0118001. https://doi.org/10.1371/journal.pone.0118001

Article  CAS  PubMed  PubMed Central  Google Scholar 

van der Lei HDW, Steenweg ME, Bugiani M et al (2012) Restricted diffusion in vanishing white matter. Arch Neurol 69:723–727. https://doi.org/10.1001/archneurol.2011.1658

Article  PubMed  Google Scholar 

Fornasa F (2011) Diffusion-weighted magnetic resonance imaging: what makes water run fast or slow? J Clin Imaging Sci 1:27. https://doi.org/10.4103/2156-7514.81294

Article  PubMed  PubMed Central  Google Scholar 

Bonomini F, Rezzani R (2010) Aquaporin and blood brain barrier. Curr Neuropharmacol 8:92–96. https://doi.org/10.2174/157015910791233132

Article  CAS  PubMed  Google Scholar 

Marom L, Ulitsky I, Cabilly Y et al (2011) A point mutation in translation initiation factor eIF2B leads to function- and time-specific changes in brain gene expression. PLoS ONE 6:e26992. https://doi.org/10.1371/journal.pone.0026992

Article  CAS  PubMed  PubMed Central  Google Scholar 

Leferink PS, Dooves S, Hillen AEJ et al (2019) Astrocyte subtype vulnerability in stem cell models of vanishing white matter. Ann Neurol 86:780–792. https://doi.org/10.1002/ana.25585

Article  CAS  PubMed  PubMed Central  Google Scholar 

Salsano E, Marotta G, Manfredi V et al (2014) Brain fluorodeoxyglucose PET in adrenoleukodystrophy. Neurology 83:981–989. https://doi.org/10.1212/WNL.0000000000000770

Article  CAS  PubMed  Google Scholar 

Finnsson J, Lubberink M, Savitcheva I et al (2019) Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. Acta Neurol Scand 139:135–142. https://doi.org/10.1111/ane.13024

Article  CAS