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.
Florian Eichler is a Neurologist in Boston, Massachusetts. Dr. Eichler has been practicing medicine for over 25 years and is rated as an Elite doctor by MediFind in the treatment of CACH Syndrome. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Adrenoleukodystrophy, CACH Syndrome, Leukodystrophy, and Metachromatic Leukodystrophy. He is licensed to treat patients in Massachusetts. Dr. Eichler is currently accepting new patients.
Ken Inoue is in Kyoto, Japan. Inoue is rated as an Elite expert by MediFind in the treatment of CACH Syndrome. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Pelizaeus-Merzbacher Disease, Leukodystrophy, CACH Syndrome, and Colorectal Polyps.
Giancarlo Comi is in Gallarate, Italy. Comi is rated as an Elite expert by MediFind in the treatment of CACH Syndrome. He is also highly rated in 37 other conditions, according to our data. His top areas of expertise are Multiple Sclerosis, Relapsing Multiple Sclerosis, Optic Neuritis, and CACH Syndrome.
Published Date:updated Last, May
Published By: National Institutes of Health