Cerebrotendinous xanthomatosis

The mechanism behind accumulation of cholestanol in brain and tendons of patients with CTX has been clarified but it is not known why this accumulation is associated with parallel accumulation of cholesterol and formation of xanthomas. Further studies are needed to understand why some patients with CTX develop white matter lesions in the brain. In view of the fact that CTX can present with upper motor neuronal signs it is interesting that CYP27 has been shown to be a candidate gene for sporadic ALS.