Cerebrotendinous Xanthomatosis

Cerebrotendinous Xanthomatosis [CYP27A1]: An 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.

For detailed information about this disease visit : National Institutes of Health (NIH) >

Carrier Frequency by Ethnicity >