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Xu, C. Leukoencephalopathy with Vanishing White Matter. Encyclopedia. Available online: https://encyclopedia.pub/entry/4574 (accessed on 22 September 2026).
Xu C. Leukoencephalopathy with Vanishing White Matter. Encyclopedia. Available at: https://encyclopedia.pub/entry/4574. Accessed September 22, 2026.
Xu, Camila. "Leukoencephalopathy with Vanishing White Matter" Encyclopedia, https://encyclopedia.pub/entry/4574 (accessed September 22, 2026).
Xu, C. (2020, December 24). Leukoencephalopathy with Vanishing White Matter. In Encyclopedia. https://encyclopedia.pub/entry/4574
Xu, Camila. "Leukoencephalopathy with Vanishing White Matter." Encyclopedia. Web. 24 December, 2020.
Leukoencephalopathy with Vanishing White Matter
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).

genetic conditions

References

  1. Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Pröschel M, Noble M,Torres C, Pröschel C. EIF2B5 mutations compromise GFAP+ astrocyte generation invanishing white matter leukodystrophy. Nat Med. 2005 Mar;11(3):277-83.
  2. Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases.Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. Review.
  3. Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D,Kimball SR, Boespflug-Tanguy O. Decreased guanine nucleotide exchange factoractivity in eIF2B-mutated patients. Eur J Hum Genet. 2004 Jul;12(7):561-6.
  4. Li W, Wang X, Van Der Knaap MS, Proud CG. Mutations linked toleukoencephalopathy with vanishing white matter impair the function of theeukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol. 2004Apr;24(8):3295-306.
  5. Pavitt GD. eIF2B, a mediator of general and gene-specific translationalcontrol. Biochem Soc Trans. 2005 Dec;33(Pt 6):1487-92. Review.
  6. Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS. Vanishing whitematter disease: a review with focus on its genetics. Ment Retard Dev Disabil Res Rev. 2006;12(2):123-8. Review.
  7. Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosisof vanishing white matter disease. Neurol Sci. 2006 Sep;27(4):271-7. Review.
  8. Scheper GC, Proud CG, van der Knaap MS. Defective translation initiationcauses vanishing of cerebral white matter. Trends Mol Med. 2006 Apr;12(4):159-66.
  9. Schiffmann R, Elroy-Stein O. Childhood ataxia with CNShypomyelination/vanishing white matter disease--a common leukodystrophy caused byabnormal control of protein synthesis. Mol Genet Metab. 2006 May;88(1):7-15.
  10. Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, Alger JR,Parker CC, Hauer PE, Kaneski CR, et al. Childhood ataxia with diffuse centralnervous system hypomyelination. Ann Neurol. 1994 Mar;35(3):331-40.
  11. van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing WhiteMatter. 2003 Feb 20 [updated 2019 Apr 4]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1258/
  12. van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC,Powers JM, van der Knaap MS. The unfolded protein response in vanishing whitematter disease. J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5.
  13. van Kollenburg B, van Dijk J, Garbern J, Thomas AA, Scheper GC, Powers JM, vander Knaap MS. Glia-specific activation of all pathways of the unfolded proteinresponse in vanishing white matter disease. J Neuropathol Exp Neurol. 2006Jul;65(7):707-15.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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