Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene.

Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition.

Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and genetic testing. People with cerebrotendinous xanthomatosis have high levels of cholestanol in their blood. Genetic testing of the CYP27A1 gene is also available and can detect mutations in about 98% of patients.

Cerebrotendinous xanthomatosis is inherited in an autosomal recessive pattern.

The xanthomas commonly occur on the tendons, such as the Achilles tendon and the tendons of the elbows, hands, knees, and neck. Xanthomas have also been reported in the lungs, bones, and central nervous system.

Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body (lipid storage disease). People with this disorder cannot break down certain lipids effectively (such as cholesterol), so 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, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems and progressive neurologic problems, such as 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 because of lipid buildup. It is caused by mutations in the _CYP27A1 _gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, coenzyme Q10 and surgery to remove cataracts.

Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can lead to muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.