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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
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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]
This condition is inherited in an autosomal recessive fashion and is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes.[1]
References
- Leukoencephalopathy with vanishing white matter. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter. Accessed April 1, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Leukoencephalopathy with vanishing white matter. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Leukoencephalopathy with vanishing white matter. Click on the link to go to OMIM and review these resources.