CACH Syndrome

Common Name(s)

CACH Syndrome, Leukoencephalopathy with vanishing white matter

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (brain and spinal cord). 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 the nerves. Most affected individuals begin to show signs and symptoms in early childhood, which include abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). Symptoms of this condition can be exacerbated by episodes of fever and/or head trauma. More severe forms, which are less common, may be apparent at birth.

This condition is inherited in an autosomal recessive fashion and is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CACH Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "CACH Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.
 

Author(s): Sachin R Vaidya, Shrinivas B Desai, Satish V Khadilkar, Neeta A Mehta

Journal: Neurol India. 2004 Sep;52(3):372-4.

 

We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients ...

Last Updated: 8 Oct 2004

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "CACH Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.