A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

• Main Authors: Hamed Ghoshouni MD (Author), Roham Sarmadian MD (Author), Rana Irilouzadian MD (Author), Habibe Nejad Biglari MD (Author), Abolfazl Gilani MD (Author)
• Format: Book
• Published: SAGE Publishing, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the sym...