CACH SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
Pediatric Nephrology - University Of Utah Hospital
Joshua Bonkowsky is a Neurologist practicing medicine in Salt Lake City, Utah. Dr. Bonkowsky is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, Krabbe Disease, and Gastrostomy. Dr. Bonkowsky is board certified in American Board Of Psychiatry And Neurology. Dr. Bonkowsky is currently accepting new patients.
Regenstein Center For Neurological Care - Lavin Family Pavilion
Igor Koralnik is a Neurologist practicing medicine in Chicago, Illinois. Dr. Koralnik is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Progressive Multifocal Leukoencephalopathy, CACH Syndrome, Encephalitis, Thrombectomy, and Endovascular Embolization. Dr. Koralnik is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified). Dr. Koralnik is currently accepting new patients.
University Of Minnesota Masonic Children's Hospital
David Nascene is a Pediatric Radiologist and a Radiologist practicing medicine in Minneapolis, Minnesota. Dr. Nascene is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses CACH Syndrome, Spinal Muscular Atrophy Type 2, X-Linked Infantile Spinal Muscular Atrophy, Posterior Fossa Decompression, and Osteotomy. Dr. Nascene is board certified in Neuroradiology: American Board Of Radiology, 2013 and Diagnostic Radiology: American Board Of Radiology, 2008.
Background: Multiple sclerosis (MS) affects the brain, spinal cord, and optic nerves. MS lesions can appear on the MRI (magnetic resonance imaging) scans in many ways. Sometimes they light up from the outer edge and fill inward. This is called ring enhancement. Researchers think this type of lesion may not heal as well as others. Corticosteroids are the standard treatment to reduce symptoms of MS relapse. But...
Background: \- Progressive multifocal leukoencephalopathy (PML) is a severe viral infection of the brain. It is caused by JC virus. Many people have this virus in their bodies all their life, but it is usually kept in check by their immune system. If the immune system does not work right because of a disease or medication, the virus becomes active and can damage cells in the brain. Not much is known about PML...
Published Date: May 01, 2013
Published By: National Institutes of Health