Сerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1. The disease is characterizedby a varying age of the onset, progressive course, and widerange of the neurological and extraneural symptoms. MRI of thebrain plays an important diagnostic role. Measurement of theserum cholestanol level and DNA analysis are verification methods.Timely started chenodeoxycholic acid replacement therapyenables slowing down the disease progression and, in some cases,preventing neurological disability. References

Keywords

• cerebrotendinous xanthomatosis
• cyp27a1 gene
• clinical diversity
• cholestanol
• dna diagnosis
• chenodeoxycholic acid