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.
Frederik Barkhof practices in London, United Kingdom. Mr. Barkhof is rated as an Elite expert by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Multiple Sclerosis (MS), Dementia, Alzheimer's Disease, CACH Syndrome, and Gastric Bypass.
Regenstein Center For Neurological Care - Lavin Family Pavilion
Igor Koralnik is a Neurologist in Chicago, Illinois. Dr. Koralnik has been practicing medicine for over 38 years and is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Progressive Multifocal Leukoencephalopathy, CACH Syndrome, Encephalitis, Thrombectomy, and Endovascular Embolization. Dr. Koralnik is currently accepting new patients.
Washington University
David Clifford is a Neurologist in Saint Louis, Missouri. Dr. Clifford is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Progressive Multifocal Leukoencephalopathy, CACH Syndrome, Encephalitis, and Neurosarcoidosis. Dr. Clifford is currently accepting new patients.
Summary: To assess the sensitivity and accuracy of diffusion magnetic resonance imaging (MRI), including diffusion-weighted imaging (DWI) metrics, in identifying early-stage changes in brain white matter related to various white matter diseases.
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia. Researchers want to monitor people with CADASIL over time.
Published Date: May 01, 2013
Published By: National Institutes of Health