Learn About CACH Syndrome

What is the definition of 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.

What are the causes of CACH Syndrome?

Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter.

How prevalent is CACH Syndrome?

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.

Is CACH Syndrome an inherited disorder?

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.

Who are the top CACH Syndrome Local Doctors?
Frederik Barkhof
Elite in CACH Syndrome
Elite in CACH Syndrome
UCL Queen Square Institute Of Neurology, 
London, ENG, GB 

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.

Igor J. Koralnik
Elite in CACH Syndrome
Elite in CACH Syndrome

Regenstein Center For Neurological Care - Lavin Family Pavilion

259 E Erie St, Ste 1900, 
Chicago, IL 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

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 CACH Syndrome, Progressive Multifocal Leukoencephalopathy, Encephalitis, Thrombectomy, and Endovascular Embolization. Dr. Koralnik is currently accepting new patients.

 
 
 
 
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Ingeborg Mann-Krageloh
Elite in CACH Syndrome
Elite in CACH Syndrome
Tuebingen, BW, DE 

Ingeborg Mann-Krageloh practices in Tuebingen, Germany. Ms. Mann-Krageloh is rated as an Elite expert by MediFind in the treatment of CACH Syndrome. Her top areas of expertise are Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, Pontocerebellar Hypoplasia, and Bone Marrow Transplant.

What are the latest CACH Syndrome Clinical Trials?
A Phase Ib Study of Nivolumab in Patients With Autoimmune Disorders and Advanced Malignancies (AIM-NIVO)

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...

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Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)

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...

Who are the sources who wrote this article ?

Published Date: May 01, 2013
Published By: National Institutes of Health