Cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis,[1] is a rare inborn bile acid metabolism disorder caused by autosomal-recessive mutations in the CYP27A1 gene.

Neurological characteristics include Parkinsonism, epilepsy, dystonia, progressive ataxia, palatal myoclonus, intellectual disability, dementia, and psychiatric symptoms.

Clinical symptoms include cardiovascular disease and premature atherosclerosis, with patients experiencing elevated levels of 27-hydroxycholesterol and decreased high-density lipoprotein cholesterol.

Chronic and intractable diarrhea is a common symptom, and gallstones, cholecystic polypus, and newborn cholestatic jaundice are also observed in some CTX patients.

Cerebrotendinous xanthomatosis manifests in a variety of ways, including several organs and a wide spectrum of neurological and non-neurological symptoms.

[2] In CTX patients, serum calcium, phosphate, and vitamin D metabolites are normal, but intestine radiocalcium absorption is reduced and total body bone mineral density is poor.

[18] Molecular genetic analysis, neuroimaging, biochemical testing, and clinical findings are the main methods used in the diagnosis of CTX.

[2] Enhanced plasma cholestanol and elevated bile alcohol levels in urine, along with a decreased biliary concentration of chenodeoxycholic acid, are among the biochemical anomalies observed in CTX patients.

Liver transplantation,[8] low-density lipoprotein apheresis,[23] and vitamin E supplementation are further potential treatments that do not yet have solid clinical backing.

[2] This includes antidepressant medicine for depression,[24] antiepileptic therapy for convulsive seizures,[5] levodopa for parkinsonism,[25] and botulinum toxin for dystonia.