Chapter 36
Vanishing White Matter Disease
Marianna Bugiani,
James M. Powers,
Marjo S. van der Knaap,
Marianna Bugiani
VU University Medical Center, Departments of Child Neurology and Pathology, Amsterdam, the Netherlands
Search for more papers by this authorJames M. Powers
University Rochester Medical Center, Department of Pathology and Laboratory Medicine, Rochester, NY, USA
Search for more papers by this authorMarjo S. van der Knaap
VU University Medical Center, Department of Child Neurology, Amsterdam, the Netherlands
Search for more papers by this authorMarianna Bugiani,
James M. Powers,
Marjo S. van der Knaap,
Marianna Bugiani
VU University Medical Center, Departments of Child Neurology and Pathology, Amsterdam, the Netherlands
Search for more papers by this authorJames M. Powers
University Rochester Medical Center, Department of Pathology and Laboratory Medicine, Rochester, NY, USA
Search for more papers by this authorMarjo S. van der Knaap
VU University Medical Center, Department of Child Neurology, Amsterdam, the Netherlands
Search for more papers by this authorBook Editor(s):Homa Adle-Biassette,
Brian N. Harding,
Jeffrey Golden,
Homa Adle-Biassette
Search for more papers by this authorBrian N. Harding
Search for more papers by this authorJeffrey Golden
Search for more papers by this authorAbstract
Vanishing white matter (VWM) is one of the most prevalent inherited white matter disorders. It is a leukoencephalopathy with an autosomal-recessive mode of inheritance, characterized by progressive rarefaction and cystic degeneration of the cerebral white matter. VWM affects patients of all ages, from prenatal onset to senescence. VWM is characterized by chronic neurologic deterioration with additional episodes of more rapid and serious deterioration, most often provoked by febrile infections orminor head trauma, which may lead to coma and death. Ovarian failure is frequent among female patients with VWM and may even precede the neurologic decline. In patients with VWM, serious deteriorations often follow febrile infections, which could correlate to the regulating role of eIF2B on translation upon heat stress. The functional effects of VWM mutations are very diverse, including defects in eIF2B complex integrity, binding to the regulatory a-subunit, substrate binding, and guanine nucleotide exchange factor activity.
References
- van der Knaap MS, Pronk JC, Scheper GC (2006) Vanishing white matter disease. Lancet Neurol 5: 413–23
- Schiffmann R, Moller JR, Trapp BD et al. (1994) Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 35: 331–40
- Brück W, Herms J, Brockmann K et al. (2001) Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development. Ann Neurol 50: 532–6
- Fogli A, Wong K, Eymard-Pierre E et al. (2002) Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 52: 506–10
- Schiffmann R, Tedeschi G, Kinkel P et al. (1997) Leukodystrophy in patients with ovarian dysgenesis. Ann Neurol 41: 654–61
- Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases (2006) Biochem Soc Trans 34: 22–9
- Van der Knaap MS, Breiter SN, Naidu S et al. (1999) Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 213: 121–33
- van der Lei HD, van Berkel CG, van Wieringen WN et al. (2010) Genotype–phenotype correlation in vanishing white matter disease. Neurology 75: 1555–9
- Black DN, Booth F, Watters GV et al. (1988) Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol 24: 490–6
- van der Knaap MS, van Berkel CG, Herms J et al. (2003) eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 73: 1199–207
- Leegwater PA, Vermeulen G, Könst AA et al. (2001) Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nature Genet 29: 383–8
- Van der Knaap MS, Leegwater PA, Könst AA et al. (2002) Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 51: 264–70
- Fogli A, Dionisi-Vici C, Deodato F et al. (2002) A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology 59: 1966–8
- Fogli A, Rodriguez D, Eymard-Pierre E et al. (2003) Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 72: 1544–50.
- Leegwater PA, Könst AA, Kuyt B et al. (1999) The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am J Hum Genet 65: 728–34
- Hanefeld F, Holzbach U, Kruse B et al. (1993) Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 24: 244–8
- Van der Knaap MS, Barth PG, Gabreels FJ et al. (1997) A new leukoencephalopathy with vanishing white matter. Neurology 48: 845–55
- Van der Knaap MS, Kamphorst W, Barth PG et al. (1998) Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 51: 540–7
- van der Lei HD, Steenweg ME, Barkhof F et al. (2012) Characteristics of early MRI in children and adolescents with vanishing white matter. Neuropediatrics 43: 22–6
- Van der Knaap MS, Wevers RA, Kure S et al. (1999) Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencepohalopathy with vanishing white matter. J Child Neurol 14: 728–31
- Vanderver A, Schiffmann R, Timmons M et al. (2005) Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clin Chem 51: 2031–42
- Bugiani M, Boor I, van Kollenburg B et al. (2011) Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol 70: 69–82
- Francalanci P, Eymard-Pierre E, Dionisi-Vici C et al. (2001) Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 57: 265–70
- Harding BN, Surtees R (2002) Metabolic and neurodegenerative diseases of childhood. In: DI Graham, PL Lantos, eds, Greenfield's Neuropathology, 7th ed. London, Arnold, pp. 485–517
- Rodriguez D, Gelot A, della Gaspera B et al. (1999) Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. Acta Neuropathol 97: 469–80
- Sugiura C, Miyata H, Oka A et al. (2001) A Japanese girl with leukoencephalopathy with vanishing white matter. Brain Develop 23: 56–61
- Topçu I, Saatci I, Anil Apak R, Söylemezoglu F (2000) A case of leukoencephalopathy with vanishing white matter. Neuropadiatrics 31: 100–3
- Wong K, Armstrong RC, Gyure KA et al. (2000) Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol 100: 635–46
- Anzil AP, Gessaga E (1972) Late-life cavitating dystrophy of the cerebral and cerebellar white matter. Eur Neurol 7: 79–94
- Deisenhammer E, Jellinger K (1976) Höhlen-bindende neurtralfett-leukodystrophie mit schubverlauf. Neuropediatrics 7: 111–21
-
Eicke WJ (1962) Polycystische umwandlung des marklagers mit progredientem verlauf. Atypische diffuse sklerose? Arch Psychiat Nervenkr
203: 599–602
10.1007/BF00352729 Google Scholar
- Gautier JC, Gray F, Awada A, Escourolle R (1984) Leucodystrophie orthichromatique cavitaire de l'adulte. Prolifération et inclusions oligodendrogliales. Rev Neurol (Paris) 140: 493–501
- Girard PF, Tommassi M, Rochet M, Boucher M (1968) Leucoencéphalopathie avec cavitations massives, bilatérales et symétriques. Syndrome de décortication post-traumatique. Press Med 76: 163–6
- Watanabe I, Muller J (1967) Cavitating “diffuse sclerosis.” J Neuropathol Exp Neurol 26: 437–55
- Bugiani M, Boor I, Powers JM et al. (2010) Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol 69: 987–96
- Graveleau P, Gray F, Plas J et al. (1985) Leucodystrophie orthochromatique cavitaire avec modifications oligodendrogliales. Un cas sporadique adulte. Rev Neurol (Paris) 141: 713–18
- Van Haren KP, van der Voorn P, van der Knaap MS, Powers JM (2004) Life and death of oligodendrocytes in vanishing white matter disease. J Neuropathol Exp Neurol 63: 618–30
- Bugiani M, Postma N, Polder E et al. (2013) Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease. Brain 136: 209–22
- Dietrich J, Lacagnina M, Gass D et al. (2005) EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med 11: 277–83
- Prass K, Bruck W, Schroder NW et al. (2001) Adult onset leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol 50: 665–8
- Geva M, Cabilly Y, Assaf Y et al. (2010) A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter. Brain 133: 2448–61
- Cabilly Y, Barbi M, Geva M et al. (2012) Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease. PLoS One 7: e46715
- Proud CG (2002) Regulation of mammalian translation factors by nutrients. Eur J Biochem 269: 5338–49
- Kleijn M, Scheper GC, Voorma HO, Thomas AAM (1998) Regulation of translation initiation factors by signal transduction. Eur J Biochem 253: 531–44
- Proud CG (2001) Regulation of eukaryotic initiation factor eIF2B. Prog Mol Subcell Biol 26: 95–114
- Hinnebusch AG (2000) Mechanism and regulation of initiator methionyl-tRNA binding to ribosomes. In: N Sonenberg, JWB Hershey, MB Mathews, eds, Translational Control of Gene Expression. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, pp. 185–243
- Welch WJ (1992) Mammalian stress response: cell physiology, structure/function of stress proteins, and implications for medicine and disease. Physiol Rev 72: 1063–81
- Duncan RF, Hershey JW (1989) Protein synthesis and protein phosphorylation during heat stress, recovery, and adaptation. J Cell Biol 109: 1467–81
- Scheper GC, Mulder J, Kleijn M et al. (1997) Inactivation of eIF2B and phosphorylation of PHAS-I in heat-shocked rat hepatoma cells. J Biol Chem 272: 26850–6
- Hershey JWB, Merrick WC (2000) The pathway and mechanism of initiation of protein synthesis. In: N Sonenberg, JWB Hershey, MB Mathews, eds, Translational Control of Gene Expression. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, pp. 33–88
- Oldfield S, Jones BL, Tanton D, Proud CG (1994) Use of monoclonal antibodies to study the structure and function of eukaryotic protein synthesis initiation factor eIF-2B. Eur J Biochem 221: 399–410
- Rowlands AG, Montine KS, Henshaw EC, Panniers R (1988) Physiological stresses inhibit guanine-nucleotide-exchange factor in Ehrlich cells. Eur J Biochem 175: 93–9
- Liu R, van der Lei HD, Wang X et al. (2011) Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. Hum Mutat 32: 1036–45
- Krishnamoorthy T1, Pavitt GD, Zhang F et al. (2001) 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 21: 5018–30
- van Kollenburg B1, Thomas AA, Vermeulen G et al. (2006) Regulation of protein synthesis in lymphoblasts from vanishing white matter patients. Neurobiol Dis 21: 496–504
- Kantor L, Harding HP, Ron D et al. (2005) Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. Hum Genet 118: 99–106
