Diseases Studied
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All Diseases > Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis
Alternative Names: CTX
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the CYP27A1 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. CTX is also characterized by abnormal storage of fats (lipids) in many areas of the body. People with CTX cannot effectively break down certain lipids, including cholesterol. As a result, these fats form fatty yellow nodules called xanthomas that accumulate in the body, especially in the brain and the tendons that attach muscle to bone. Symptoms include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems, progressive neurologic problems, epilepsy, movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), dementia, hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture (osteoporosis) and an increased risk of developing heart or lung failure.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
CTX Alliance
The CTX Alliance’s mission is to support, educate, and provide a voice for CTX patients and their caregivers as researchers work toward a cure. Their purpose is to provide education, support, advocacy, and promote innovative research for patients affected with Cerebrotendinous Xanthomatosis (CTX), as well their families and medical professionals who treat and study this rare disease.