Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis

Excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurodegenerative disorder linked to the mutation of the CYP27A1 gene, coding for the mitochondrial enzyme sterol 27-hydroxylase. Absence of enzyme’s activity causes the accumulation of cholestanol, product of the metabolic cascade from cholesterol to bile acids, in the central nervous system and in other tissues. Phenotype is usually characterized by spastic paraparesis, ataxia, peripheral neuropathy, psychiatric disturbances, and signs of multisystem involvement such as childhood-onset chronic diarrhea, tendons xanthomas, and juvenile cataract. To date, many mutations and different phenotypes have been described, evidencing a wide variability among the same genotypes and occasionally within the same families [1]. …