About Cerebrotendinous Xanthomatosis

What is Cerebrotendinous Xanthomatosis?

Cerebrotendinous xanthomatosis (CTX) is a rare inherited disorder caused by a deficiency of the enzyme sterol 27-hydroxylase. This enzyme is responsible for breaking down a type of cholesterol called cholestanol. When the enzyme is deficient, cholestanol accumulates in the body and forms deposits called xanthomas in the tendons, brain, and other organs. Symptoms of CTX include tendon xanthomas, cataracts, neurological problems, and elevated levels of cholesterol in the blood. Treatment for CTX involves taking a medication called chenodeoxycholic acid to reduce the levels of cholestanol in the body.

What are the symptoms of Cerebrotendinous Xanthomatosis?

The symptoms of Cerebrotendinous Xanthomatosis (CTX) vary depending on the age of onset, but generally include:

-Developmental delay

-Intellectual disability


-Movement disorders


-High cholesterol


-Tendon xanthomas (yellowish bumps on the tendons)

-Cerebellar Ataxia (uncoordinated movements)

-Behavioral problems



-Sleep disturbances


-Joint pain

-Muscle weakness

-Vision problems

-Hearing loss

What are the causes of Cerebrotendinous Xanthomatosis?

Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder caused by mutations in the CYP27A1 gene. This gene provides instructions for making an enzyme called sterol 27-hydroxylase, which is involved in the breakdown of cholesterol and other fats. Mutations in the CYP27A1 gene lead to a deficiency of this enzyme, which causes an accumulation of cholesterol and other fats in the body, leading to the development of CTX.

What are the treatments for Cerebrotendinous Xanthomatosis?

The primary treatment for Cerebrotendinous Xanthomatosis (CTX) is a lifelong regimen of dietary supplementation with chenodeoxycholic acid (CDCA). This is a bile acid that helps to reduce the levels of cholesterol in the body. Other treatments may include cholesterol-lowering medications, physical therapy, and occupational therapy. In some cases, surgery may be necessary to remove the xanthomas (cholesterol deposits) from the body.

What are the risk factors for Cerebrotendinous Xanthomatosis?

1. Inherited genetic mutation: Cerebrotendinous Xanthomatosis is caused by a mutation in the CYP27A1 gene.

2. Age: The condition is most commonly diagnosed in childhood or adolescence, but can occur at any age.

3. Gender: The condition is more common in males than females.

4. Ethnicity: The condition is more common in people of Middle Eastern, Mediterranean, and North African descent.

Is there a cure/medications for Cerebrotendinous Xanthomatosis?

Yes, there is a cure for Cerebrotendinous Xanthomatosis. The treatment of choice is a medication called chenodeoxycholic acid (CDCA). This medication helps to reduce the levels of cholesterol in the body and can help to reduce the symptoms of Cerebrotendinous Xanthomatosis. Other medications may also be prescribed to help manage the symptoms of the condition.