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.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 76