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
Dr. Josh Bonkowsky is an associate professor of Pediatric Neurology (Pediatrics) and of Neurology. He obtained his MD and PhD degrees at the University of California. His undergraduate training was at Harvard University, and his Pediatrics and Neurology/Pediatric Neurology training was at the University of Utah and Boston Children's Hospital. His clinical studies are focused on understanding clinical features of leukodystrophies and genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky's clinical research group is investigating genetics of leukodystrophies to understand the genetic and medical impacts of these disorders. The Bonkowsky Laboratory is generating disease models for high-throughput drug discovery and investigating human neurogenetic diseases, specifically diseases of basal ganglia function and white matter diseases. On sunny afternoons, Dr. Bonkowsky enjoys trail running and learning to skate ski. Dr. Bonkowsky is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, Krabbe Disease, and Gastrostomy.
Regenstein Center For Neurological Care - Lavin Family Pavilion
Igor Koralnik is a Neurologist in Chicago, Illinois. Dr. Koralnik 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.
Johns Hopkins Hospital
Daniel Reich is a Neuroradiologist in Baltimore, Maryland. Dr. Reich is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Multiple Sclerosis (MS), CACH Syndrome, Progressive Multifocal Leukoencephalopathy, and Encephalitis.
Summary: There is no approved standard treatment für progressive multifocal leukoencephalopathy (PML). The sponsor of the study is developing a new treatment. For this reason, the investigational medicinal product (IMP) called 'human allogenic HPyV-2-specific T cells' is to be tested in this study. The sponsor wants to find out whether the IMP is safe, influences the neurological status and improves the qu...
Summary: This phase Ib trial studies the side effects of nivolumab and to see how well it works in treating patients with autoimmune disorders and cancer that has spread to other places in the body or cannot removed by surgery. Immunotherapy with monoclonal antibodies, such as nivolumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and sprea...
Published Date: May 01, 2013
Published By: National Institutes of Health