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cerebrotendinous xanthomatosis

MIM.213700 2q33-qter

Tuesday 28 February 2006

Definition: Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis.

Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts.

Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs.

Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas.

Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues.

The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected.

Plasma cholesterol concentrations are low normal in CTX patients.

The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made.

CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated.


- Cerebrotendinous xanthomatosis is caused by mutation in the CYP27A1 gene (MIM.606530), which encodes sterol 27-hydroxylase.


- Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Arch Neurol. 2002 Apr;59(4):527-9. PMID: 11939886

- van Hellenberg Hubar JL, Joosten EM, Wevers RA. Cerebrotendinous xanthomatosis. Clin Neurol Neurosurg. 1992;94 Suppl:S165-7. PMID: 1320501