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Genetic and Rare Diseases Information Center (GARD)

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Leukoencephalopathy with vanishing white matter


Other Names for this Disease

  • CACH syndrome
  • CACH/VWM syndrome
  • Childhood ataxia with diffuse central nervous system hypomyelination
  • Cree leukoencehalopathy
  • Myelinosis centralis diffusa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (brain and spinal cord). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects the nerves. Most affected individuals begin to show signs and symptoms in early childhood, which include abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). Symptoms of this condition can be exacerbated by episodes of fever and/or head trauma. More severe forms, which are less common, may be apparent at birth.[1]

This condition is inherited in an autosomal recessive fashion and is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes.[1]
Last updated: 4/1/2011

References

  1. Leukoencephalopathy with vanishing white matter. Genetics Home Reference. October 2007; http://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter. Accessed 4/1/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Leukoencephalopathy with vanishing white matter. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leukoencephalopathy with vanishing white matter. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CACH syndrome
  • CACH/VWM syndrome
  • Childhood ataxia with diffuse central nervous system hypomyelination
  • Cree leukoencehalopathy
  • Myelinosis centralis diffusa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.