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Related Experiment Videos

Vanishing white matter disease.

Marjo S van der Knaap1, Jan C Pronk, Gert C Scheper

  • 1Department of Pediatrics and Child Neurology, VU University Medical Center, Amsterdam, Netherlands. ms.vanderknaap@vumc.nl

The Lancet. Neurology
|April 25, 2006
PubMed
Summary
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Vanishing white matter disease (VWM), a common childhood neurological disorder, stems from defects in the protein synthesis factor eIF2B. This leads to progressive white matter loss, particularly affecting glial cells.

Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Vanishing white matter disease (VWM) is a prevalent inherited childhood leucoencephalopathy.
  • It presents with chronic neurological deterioration, often starting in early childhood and characterized by cerebellar ataxia.
  • VWM exhibits unique sensitivity to stressors like infections and trauma, potentially causing rapid decline and coma.

Purpose of the Study:

  • To elucidate the underlying genetic defects and cellular mechanisms in Vanishing White Matter Disease.
  • To understand the selective vulnerability of glial cells in VWM despite defects in a housekeeping gene.
  • To explore the role of the unfolded-protein response in VWM pathophysiology.

Main Methods:

  • Review of clinical phenotypes and diagnostic MRI findings in VWM patients.

Related Experiment Videos

  • Analysis of the genetic basis involving subunits of eukaryotic translation initiation factor eIF2B.
  • Investigation into the cellular impact on oligodendrocytes and astrocytes, and the unfolded-protein response.

    • Main Results:

    • VWM is caused by mutations in genes encoding subunits of the eIF2B factor, crucial for protein synthesis.
    • MRI scans are diagnostic, showing characteristic vanishing of cerebral white matter.
    • Despite eIF2B being essential in all cells, oligodendrocytes and astrocytes are disproportionately affected.

    Conclusions:

    • Defects in eIF2B lead to Vanishing White Matter Disease, a severe leukoencephalopathy.
    • The selective vulnerability of glial cells in VWM remains incompletely understood.
    • Further research into the unfolded-protein response is critical for understanding VWM pathogenesis.