cytellin and Brain-Diseases

This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulation of cholestanol in tissues may play a crucial role. Chenodeoxycholic acid is the most effective therapy. The causative role and detrimental effects (at a low plasma level) of cholestanol merit further investigation.

Topics: Brain Diseases; Chenodeoxycholic Acid; Cholestanol; Diagnosis, Differential; Humans; Hyperlipoproteinemia Type II; Musculoskeletal Diseases; Sitosterols; Tendons; Xanthomatosis

The primary defect in sitosterolaemia is unknown. In some patients excretion of bile alcohols is increased, and it has been suggested that the defect is located to some step in the biosynthesis of bile acids. The activity of C27-steroid 26-hydroxylase was measured in cultured skin fibroblasts from a sitosterolaemic patient. The same assay was used as before in demonstrating deficiency of this enzyme activity in cerebrotendinous xanthomatosis (CTX), a disease in which high excretion of bile alcohols is typical. The substrate, 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol, was 26-hydroxylated to the same extent in the patient cells as in those of healthy controls. Thus, the sitosterolaemia cells have a normal activity of this enzyme.

Topics: Brain Diseases; Cells, Cultured; Child; Cholestanetriol 26-Monooxygenase; Chromatography, High Pressure Liquid; Fibroblasts; Humans; Male; Sitosterols; Steroid Hydroxylases; Xanthomatosis

Topics: Amino Acids, Branched-Chain; Brain Diseases; Choline; Diet; Dyskinesia, Drug-Induced; Hepatic Encephalopathy; Humans; Huntington Disease; Hypercholesterolemia; Lactulose; Memory Disorders; Phosphatidylcholines; Sitosterols; Synaptic Transmission

Topics: Brain Diseases; Cholestanols; Humans; Lung Diseases; Sitosterols; Tendons; Xanthomatosis