Vanishing white matter disease

Orna Elroy-Stein, Raphael Schiffmann

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) disease is an autosomal recessive disorder characterized by progressive ataxia, spasticity, and, rarely, optic atrophy. Clinical disease onset can occur at any age, but most commonly in early childhood (age 1-5 years). Motor and intellectual development are normal or mildly delayed, followed by motor deterioration with a chronic progressive or subacute course. Chronic progressive decline may be exacerbated by rapid deterioration during any type of physical or psychological stress. Behavioral or psychiatric abnormalities are common in the adult-onset form. CACH/VWM is suspected typically when clinical findings are combined with characteristic abnormalities on brain MRI. The diagnosis can be confirmed in 90% of the patients by the identification of mutations in one of five genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5) that encode the subunits of the eukaryotic translation initiation factor 2B (eIF2B). Research is focused on mitigating the hypersensitivity of glial cells to cellular stress as an approach to therapy of this devastating disease.

Original languageEnglish
Title of host publicationRosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationVolume 2
PublisherElsevier
Pages301-317
Number of pages17
ISBN (Electronic)9780128138663
DOIs
StatePublished - 1 Jan 2020

Keywords

  • Brain/pathology
  • Eukaryotic initiation factor-2b
  • Glial cells
  • Leukodystrophy
  • Magnetic resonance imaging
  • Mrna translation
  • Myelin
  • Protein synthesis
  • Unfolded protein response (UPR)
  • White matter

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