Leukoencephalopathy with vanishing white matter: a review

J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa.

Abstract

Vanishing white matter (VWM) is one of the most prevalent inherited childhood leukoencephalopathies, but this may affect people of all ages, including neonates and adults. It is a progressive disorder clinically dominated by cerebellar ataxia and in which minor stress conditions, such as fever or mild trauma, provoke major episodes of neurologic deterioration. Typical pathological findings include increasing white matter rarefaction and cystic degeneration, oligodendrocytosis with highly characteristic foamy oligodendrocytes, meager astrogliosis with dysmorphic astrocytes, and loss of oligodendrocytes by apoptosis. Vanishing white matter is caused by mutations in any of the genes encoding the 5 subunits of the eukaryotic translation initiation factor 2B (eIF2B), EIF2B1 through EIF2B5. eIF2B is a ubiquitously expressed protein complex that plays a crucial role in regulating the rate of protein synthesis. Vanishing white matter mutations reduce the activity of eIF2B and impair its function to couple protein synthesis to the cellular demands in basal conditions and during stress. Reduced eIF2B activity leads to sustained improper activation of the unfolded protein response, resulting in concomitant expression of proliferation, prosurvival, and proapoptotic downstream effectors. Consequently, VWM cells are constitutively predisposed and hyperreactive to stress. In view of the fact that VWM genes are housekeeping genes, it is surprising that the disease is primarily a leukoencephalopathy. The pathophysiology of selective glial vulnerability in VWM remains poorly understood.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Eukaryotic Initiation Factor-2B / genetics
  • Glycine / cerebrospinal fluid
  • Humans
  • Leukoencephalopathies* / genetics
  • Leukoencephalopathies* / pathology
  • Leukoencephalopathies* / physiopathology
  • Nerve Fibers, Myelinated / pathology*

Substances

  • Eukaryotic Initiation Factor-2B
  • Glycine