CACH Syndrome Overview
Learn About CACH Syndrome
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). 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 nerves.
Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter.
The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Laura Adang is a Child and Adolescent Psychiatrist and a Neurologist in Philadelphia, Pennsylvania. Dr. Adang and is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. Her top areas of expertise are Leukodystrophy, Aicardi-Goutieres Syndrome, Metachromatic Leukodystrophy, and CACH Syndrome.
Childrens Health Care Associates Inc
Adeline Vanderver is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Vanderver and is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. Her top areas of expertise are Aicardi-Goutieres Syndrome, Leukodystrophy, CACH Syndrome, and Pol 3-Related Leukodystrophy.
University Of Penn - Medical Group
Amit Bar is a Neurologist in Philadelphia, Pennsylvania. Dr. Bar and is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Multiple Sclerosis (MS), Relapsing Multiple Sclerosis (RMS), CACH Syndrome, and Rasmussen Encephalitis.
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Published Date: May 01, 2013
Published By: National Institutes of Health