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Leukoencephalopathy with Vanishing White Matter

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Magnetic Resonance of Myelination and Myelin Disorders

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References and Further Reading

  • Abbott CM, Proud CG. Translation factors: in sickness and in health. Trends Biochem Sci 2004; 29: 25–31

    Article  CAS  PubMed  Google Scholar 

  • Alorainy IA, Patenaude YG, O’Gorman AM, Black DN, Meagher-Villemure K. Cree leukoencephalopathy: neuroimaging findings. Radiology 1999; 213: 400–406

    CAS  PubMed  Google Scholar 

  • Anzil AP, Gessaga E. Late-life cavitating dystrophy of the cerebral and cerebellar white matter. Eur Neurol 1972; 7: 79–94

    CAS  PubMed  Google Scholar 

  • Biancheri R, Rossi A, Di Rocco M, Filocamo M, Pronk JC, van der Knaap MS, Tortori-Domati P. Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 2003; 61: 1818–1819

    CAS  PubMed  Google Scholar 

  • Black DN, Booth F, Watters GV, Andermann E, Dumont C, Halliday WC, Hoogstraten J, Kabay ME, Kaplan P, Meagher-Villemure K, Michaud J, O’Gorman G. Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol 1988; 24: 490–496

    CAS  PubMed  Google Scholar 

  • Blüml S, Philippart M, Schiffmann R, Seymour K, Ross BD. Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination. Neurology 2003; 61: 648–654

    PubMed  Google Scholar 

  • Boesen T, Mohammed SS, Pavitt GD, Andersen GR. Structure of the catalytic fragment of translation initiation factor 2B and identification of a critically important catalytic residue. J Biol Chem 2004; 279: 10584–10592

    CAS  PubMed  Google Scholar 

  • Boltshauser E, Barth PG, Troost D, Martin E, Stallmach T. “Vanishing white matter” and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype. Neuropediatrics 2002; 33: 57–62

    CAS  PubMed  Google Scholar 

  • Brück W, Herms J, Brockmann K, Schulz-Schaeffer W, Hanefeld F. Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development. Ann Neurol 2001; 50: 532–536

    Article  PubMed  Google Scholar 

  • Deisenhammer E, Jellinger K. Höhlenbildende Neurtralfett-leukodystrophie mit Schubverlauf. Neuropediatrics 1976; 7: 111–121

    CAS  Google Scholar 

  • Duncan RF, Hershey JW. Protein synthesis and protein phosphorylation during heat stress, recovery, and adaptation. J Cell Biol 1989; 109: 1467–1481

    Article  CAS  PubMed  Google Scholar 

  • Eicke WJ. Polycystische Umwandlung des Marklagers mit progredientem Verlauf. Atypische diffuse Sklerose? Arch Psychiatr Nervenkr 1962; 203: 599–602

    Article  Google Scholar 

  • Espay AJ, Bodensteiner JB, Patel H. Episodic coma in a new leukodystrophy. Pediatr Neurol 2002; 26: 139–142

    Article  PubMed  Google Scholar 

  • Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E. A severe variant of childhood ataxia with central hypomyelination / vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology 2002; 59: 1966–1968

    CAS  PubMed  Google Scholar 

  • Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002; 52: 506–510

    Article  CAS  PubMed  Google Scholar 

  • Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003 72: 1544–1550

    Article  CAS  PubMed  Google Scholar 

  • Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet 2004; 12: 561–566

    Article  CAS  PubMed  Google Scholar 

  • Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu M-P, Rodriguez D, Boespflug-Tanguy O. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004; 62: 1509–1517

    CAS  PubMed  Google Scholar 

  • Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Bolderini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E. Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2001; 57: 265–70

    CAS  PubMed  Google Scholar 

  • Gallo A, Rocca MA, Falini A, Scaglione C, Salvi F, Gambini A, Guerrini L, Mascalchi M, Pronk JC, van der Knaap MS, Filippi M. Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter. Neurology 2004; 62: 323–326

    CAS  PubMed  Google Scholar 

  • Gautier JC, Gray F, Awada A, Escourolle R. Leucodystrophie orthochromatique cavitaire de l’adulte. Prolifération et inclusion oligodendrogliales. Rev Neurol 1984; 140: 493–501

    CAS  PubMed  Google Scholar 

  • Girard PF, Tommassi M, Rochet M, Boucher M. Leucoencéphalopathie avec cavitations massives, bilatérales et symétriques. Syndrome de décortication post-traumatique. Presse Med 1968; 76: 163–166

    CAS  PubMed  Google Scholar 

  • Gow A, Sharma R. The unfolded protein response in protein aggregating diseases. Neuromol Med 2003; 4: 73–94

    Article  CAS  Google Scholar 

  • Graveleau P, Gray F, Plas J, Graveleau J, Brion S. Leucodystrophie orthochromatique cavitaire avec modifications oligodendrogliales. Un cas sporadique adulte. Rev Neurol 1985; 141: 713–718

    CAS  PubMed  Google Scholar 

  • Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993; 24: 244–248

    CAS  PubMed  Google Scholar 

  • Harding HP, Zhang Y, Ron D. Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase. Nature 1999; 397: 271–274

    CAS  PubMed  Google Scholar 

  • Harding HP, Novoa I, Zhang Y, Zeng H, Wek R, Schapira M, Ron D. Regulated translation initiation controls stress-induced gene expression in mammalian cells. Mol Cell 2000; 6: 1099–1108

    Article  CAS  PubMed  Google Scholar 

  • Hershey JWB, Merrick WC. The pathway and mechanism of initiation of protein synthesis. In: Sonenberg N, Hershey JWB, Mathews MB, eds. Translational control of gene expression. Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 2000, pp 33–88

    Google Scholar 

  • Hinnebusch AG. Mechanism and regulation of initiator methionyl-tRNA binding to ribosomes. In: Sonenberg N, Hershey JWB, Mathews MB, eds. Translational control of gene expression. Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 2000, pp 185–243

    Google Scholar 

  • Kleijn M, Scheper GC, Voorma HO, Thomas AA. Regulation of translation initiation factors by signal transduction. Eur J Biochem 1998; 253: 531–544

    Article  CAS  PubMed  Google Scholar 

  • Krishnamoorthy T, Pavitt GD, Zhang F, Dever TE, Hinnebusch AG. Tight binding of the phosphorylated alpha subunit of initiation factor 2 (eIF2alpha) to the regulatory subunits of guanine nucleotide exchange factor eIF2B is required for inhibition of translation initiation. Mol Cell Biol 2001; 21: 5018–5030

    Article  CAS  PubMed  Google Scholar 

  • Leegwater PA, Konst AA, Kuyt B, Sandkuijl LA, Naidu S, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am J Hum Genet 1999; 65: 728–734

    Article  CAS  PubMed  Google Scholar 

  • Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001; 29: 383–388

    Article  CAS  PubMed  Google Scholar 

  • Leegwater PAJ, Pronk JC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. J Child Neurol 2003; 18: 639–645

    PubMed  Google Scholar 

  • Li W, Wang X, van der Knaap MS, Proud CG. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol 2004; 24: 3295–3306

    CAS  PubMed  Google Scholar 

  • Matsui M, Mizutani K, Miki Y, Mezaki T, Takahashi Y, Shibasaki H. Adult-onset leukoencephalopathy with vanishing white matter. Eur J Radiol Extra 2003; 46: 90–92

    Google Scholar 

  • Ohtake H, Shimohata T, Terajima K, Kimura T, Jo R, Kaseda R, Iizuka O, Takano M, Akaiwa Y, Goto H, Kobayashi H, Sugai T, Muratake T, Hosoki T, Shioiri T, Okamoto K, Onodera O, Tanaka K, Someya T, Nakada T, Tsuji S. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 2004; 62: 1601–1603

    CAS  PubMed  Google Scholar 

  • Oldfield S, Jones BL, Tanton D, Proud CG. Use of monoclonal antibodies to study the structure and function of eukaryotic protein synthesis initiation factor eIF-2B. Eur J Biochem 1994; 221: 399–410

    Article  CAS  PubMed  Google Scholar 

  • Prass K, Brück W, Schröder NWJ, Bender A, Prass M, Wolf T, van der Knaap MS, Zschenderlein R. Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol 2001; 50: 665–668

    Article  CAS  PubMed  Google Scholar 

  • Proud CG. Regulation of eukaryotic initiation factor eIF2B. Prog Mol Subcell Biol 2001; 26: 95–114

    CAS  PubMed  Google Scholar 

  • Proud CG. Regulation of mammalian translation factors by nutrients. Eur J Biochem 2002; 269: 5338–5349

    CAS  PubMed  Google Scholar 

  • Richardson JP, Mohammad SS, Pavitt GD. Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2b complex formation and activity. Mol Cel Biol 2004; 24: 2352–2363

    CAS  Google Scholar 

  • Rodriguez D, Gelot A, della Gaspera B, Robain O, Ponsot G, Sarliève LL, Ghandour S, Pompidou A, Dautigny A, Aubourg P, Pham-Dinh D. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. Acta Neuropathol (Berl) 1999; 97: 469–480

    Article  CAS  PubMed  Google Scholar 

  • Rosemberg S, Leite C da C, Arita FN, Kliemann SE, Lacerda MT. Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families. Brain Dev 2002; 24: 250–256

    Article  PubMed  Google Scholar 

  • Rowlands AG, Montine KS, Henshaw EC, Panniers R. Physiological stresses inhibit guanine-nucleotide-exchange factor in Ehrlich cells. Eur J Biochem 1988; 175: 93–99

    Article  CAS  PubMed  Google Scholar 

  • Scheper GC, Mulder J, Kleijn M, Voorma HO, Thomas AAM, van Wijk R. Inactivation of eIF2B and phosphorylation of PHAS-I in heat-shocked rat hepatoma cells. J Biol Chem 1997; 272: 26850–26856

    Article  CAS  PubMed  Google Scholar 

  • Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, Alger JR, Parker CC, Hauer PE, Kaneski CR, Heiss JD, Kaye EM, Quarles RH, Brady RO, Barton NW. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331–340

    Article  CAS  PubMed  Google Scholar 

  • Schiffmann R, Tedeschi G, Kinkel P, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA. Leucodystrophy in patients with ovarian dysgenesis. Ann Neurol 1997; 41: 654–661

    Article  CAS  PubMed  Google Scholar 

  • Schneider RJ. Translational control during heat shock. In: Sonenberg N, Hershey JWB, Mathews MB (eds) Translational Control of Gene Expression. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 2000, pp 581–593

    Google Scholar 

  • Şenol U, Haspolat S, Karaali K, Lüleci E. MR imaging of vanishing white matter. AMJ Am J Roentgenol 2000; 175; 826–828

    Google Scholar 

  • Sugiura C, Miyata H, Oka A, Takashima S, Ohama E, Takeshita K. A Japanese girl with leukoencephalopathy with vanishing white matter. Brain Dev 2001; 23: 56–61

    Article  Google Scholar 

  • Tedeschi G, Schiffmann R, Barton NW, Shin HH-L, Gospe SM, Brady RO, Alger JR, di Chiro G. Proton magnetic resonance spectroscopy imaging in childhood ataxia with diffuse central nervous system hypomyelination. Neurology 1995; 45: 1526–1532

    CAS  PubMed  Google Scholar 

  • Topçu I, Saatci I, Anil Apak R, Söylemezoglu F. A case of leukoencephalopathy with vanishing white matter. Neuropadiatrics 2000; 31: 100–103

    Google Scholar 

  • van der Knaap MS, Barth PG, Gabreels FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48: 845–855

    PubMed  Google Scholar 

  • 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: 540–547

    PubMed  Google Scholar 

  • van der Knaap MS, Wevers RA, Kure S, Gabreëls FJM, Verhoeven NM, van Raaij-Selten B, Jaeken J. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencepohalopathy with vanishing white matter. J Child Neurol 1999; 14: 728–731

    PubMed  Google Scholar 

  • van der Knaap MS, Leegwater PA, Konst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002; 51: 264–270

    PubMed  Google Scholar 

  • van der Knaap MS, van Berkel CGM, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MAAP, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC. eIF2B Related Disorders: Antenatal Onset and Involvement of Multiple Organs. Am J Hum Genet 2003; 73: 1199–1207

    PubMed  Google Scholar 

  • van der Knaap MS, Leegwater PAJ, van Berkel CGM, Brenner C, Storey E, di Rocco M, Salvi F, Pronk J. Arg113His mutation in eIF2B0 as cause of leukoencephalopathy in adults. Neurology 2004; 62: 1598–1600

    PubMed  Google Scholar 

  • Van Haren K, van der Voorn JP, Peterson DR, van der Knaap MS, Powers JM. The life and death of oligodendrocytes in vanishing white matter disease. J Neuropathol Exp Neurol 2004; 63: 631–640

    Google Scholar 

  • Watanabe I, Muller J. Cavitating “diffuse sclerosis” J Neuropathol Exp Neurol 1976; 26: 437–455

    Google Scholar 

  • Welch WJ. Mammalian stress response: cell physiology, structure/function of stress proteins, and implications for medicine and disease. Physiol Rev 1992; 72: 1063–1081

    CAS  PubMed  Google Scholar 

  • Wong K, Armstrong RC, Gyure KA, Morrison AL, Rodriguez D, Matalon R, Johnson AB, Wollmann R, Gilbert E, Le TQ, Bradley CA, Crutchfield K, Schiffmann R. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol (Berl) 2000; 100: 635–646

    Article  CAS  PubMed  Google Scholar 

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© 2005 Springer-Verlag Berlin Heidelberg

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(2005). Leukoencephalopathy with Vanishing White Matter. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_65

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  • DOI: https://doi.org/10.1007/3-540-27660-2_65

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22286-6

  • Online ISBN: 978-3-540-27660-9

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