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Cerebrotendinous Xanthomatosis (CTX)

What is CTX?

Cerebrotendinous xanthomatosis (CTX) is a condition that makes it difficult for the body to metabolize cholesterol. This leads to an accumulation, typically in the connective tissues within the brain. 

CTX is rare, with only three to five people being affected out of every 100,000. While anyone can have it, the Moroccon Jewish population is at the highest risk.

What are the symptoms of CTX?

Symptoms can vary in severity and from person to person. Age is a big defining factor in symptoms. For example, a child with CTX often experiences cataracts, frequent fractures, and chronic diarrhea. Adults, on the other hand, see symptoms like seizures, hallucinations, dementia, issues with speech and coordination, and depression. 

Complications may also arise from this condition, including strokes and cardiovascular disease. 

What causes CTX?

A mutated CYP27A1 gene causes this condition, and it produces an enzyme that is necessary for the breakdown of cholesterol. It is inherited in an autosomal recessive pattern. 

How is CTX diagnosed?

The first step in treatment is noticing the characteristic symptoms, performing a physical exam, and evaluating patient history. If the patient is a child, a urinary analysis can be performed. For adults, MRIs, CT scans, and cerebrovascular exams will be used. 

What are the treatments for CTX?

There is no cure for CTX, but early intervention can slow the progression. Chenodeoxycholic acid replacement therapy is used to help the body break down cholesterol. Other medications may be prescribed to lower cholesterol as well. Other treatments are symptomatic. 

Where can I find out more about CTX?

CTX Articles