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MeSH Review

Xanthomatosis, Cerebrotendinous

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Analytical, diagnostic and therapeutic context of Xanthomatosis, Cerebrotendinous


  1. Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. Chen, W., Kubota, S., Kim, K.S., Cheng, J., Kuriyama, M., Eggertsen, G., Björkhem, I., Seyama, Y. J. Lipid Res. (1997) [Pubmed]
  2. Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. Wakamatsu, N., Hayashi, M., Kawai, H., Kondo, H., Gotoda, Y., Nishida, Y., Kondo, R., Tsuji, S., Matsumoto, T. J. Neurol. Neurosurg. Psychiatr. (1999) [Pubmed]
  3. Coronary heart disease in a patient with cerebrotendinous xanthomatosis. Valdivielso, P., Calandra, S., Durán, J.C., Garuti, R., Herrera, E., González, P. J. Intern. Med. (2004) [Pubmed]
  4. Cyclosporine, low-density lipoprotein, and cholesterol. de Groen, P.C. Mayo Clin. Proc. (1988) [Pubmed]
  5. Effect of cholestanol feeding on sterol concentrations in the serum, liver, and cerebellum of mice. Byun, D.S., Kasama, T., Shimizu, T., Yorifuji, H., Seyama, Y. J. Biochem. (1988) [Pubmed]
  6. Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid. Salen, G., Berginer, V., Shore, V., Horak, I., Horak, E., Tint, G.S., Shefer, S. N. Engl. J. Med. (1987) [Pubmed]
  7. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. Berginer, V.M., Salen, G., Shefer, S. N. Engl. J. Med. (1984) [Pubmed]
  8. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. Leitersdorf, E., Reshef, A., Meiner, V., Levitzki, R., Schwartz, S.P., Dann, E.J., Berkman, N., Cali, J.J., Klapholz, L., Berginer, V.M. J. Clin. Invest. (1993) [Pubmed]
  9. A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis. Skrede, S., Björkhem, I., Buchmann, M.S., Hopen, G., Fausa, O. J. Clin. Invest. (1985) [Pubmed]
  10. Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis. Salen, G., Shefer, S., Cheng, F.W., Dayal, B., Batta, A.K., Tint, G.S. J. Clin. Invest. (1979) [Pubmed]
  11. Transformation of 4-cholesten-3-one and 7 alpha-hydroxy-4-cholesten-3-one into cholestanol and bile acids in cerebrotendinous xanthomatosis. Salen, G., Shefer, S., Tint, G.S. Gastroenterology (1984) [Pubmed]
  12. Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. Björkhem, I., Skrede, S., Buchmann, M.S., East, C., Grundy, S. Hepatology (1987) [Pubmed]
  13. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. Cali, J.J., Hsieh, C.L., Francke, U., Russell, D.W. J. Biol. Chem. (1991) [Pubmed]
  14. Biosynthesis of cholestanol from intestinal 7 alpha-hydroxy-4-cholesten-3-one. Skrede, S., Björkhem, I. J. Biol. Chem. (1982) [Pubmed]
  15. Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. Mondelli, M., Rossi, A., Scarpini, C., Dotti, M.T., Federico, A. Arch. Neurol. (1992) [Pubmed]
  16. Liver mitochondrial P450 involved in cholesterol catabolism and vitamin D activation. Okuda, K.I. J. Lipid Res. (1994) [Pubmed]
  17. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis. Verrips, A., Steenbergen-Spanjers, G.C., Luyten, J.A., Wevers, R.A., Wokke, J.H., Gabreëls, F.J., Wolthers, B.G., van den Heuvel, L.P. Hum. Genet. (1997) [Pubmed]
  18. Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis. Salen, G., Batta, A.K., Tint, G.S., Shefer, S. Metab. Clin. Exp. (1994) [Pubmed]
  19. Transformation of chenodeoxycholic acid and ursodeoxycholic acid by human intestinal bacteria. Fedorowski, T., Salen, G., Tint, G.S., Mosbach, E. Gastroenterology (1979) [Pubmed]
  20. Sterol 27-hydroxylase acts on 7-ketocholesterol in human atherosclerotic lesions and macrophages in culture. Brown, A.J., Watts, G.F., Burnett, J.R., Dean, R.T., Jessup, W. J. Biol. Chem. (2000) [Pubmed]
  21. Biosynthesis of cholesterol, lanosterol, and delta 7-cholestenol, but not cholestanol, in cultured fibroblasts from normal individuals and patients with cerebrotendinous xanthomatosis. Tint, G.S., Salen, G. J. Lipid Res. (1982) [Pubmed]
  22. Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. Dotti, M.T., Federico, A., Signorini, E., Caputo, N., Venturi, C., Filosomi, G., Guazzi, G.C. AJNR. American journal of neuroradiology. (1994) [Pubmed]
  23. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Moghadasian, M.H. Clinical and investigative medicine. Médecine clinique et experimentale. (2004) [Pubmed]
  24. On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation. Norlin, M., von Bahr, S., Bjorkhem, I., Wikvall, K. J. Lipid Res. (2003) [Pubmed]
  25. Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. Honda, A., Salen, G., Matsuzaki, Y., Batta, A.K., Xu, G., Hirayama, T., Tint, G.S., Doy, M., Shefer, S. J. Lipid Res. (2005) [Pubmed]
  26. Identification of an endogenous ligand that activates pregnane X receptor-mediated sterol clearance. Dussault, I., Yoo, H.D., Lin, M., Wang, E., Fan, M., Batta, A.K., Salen, G., Erickson, S.K., Forman, B.M. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  27. Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis. Honda, A., Salen, G., Matsuzaki, Y., Batta, A.K., Xu, G., Leitersdorf, E., Tint, G.S., Erickson, S.K., Tanaka, N., Shefer, S. J. Biol. Chem. (2001) [Pubmed]
  28. Study of a family with Cerebrotendinous Xanthomatosis. No HLA linkage, but an informative recombination between HLA-B and Bf. Brautbar, C., Yehuda, O., Eisenberg, S., Cohen, N., Amar, A., Sharon, R., Fried, K., Aghasi, M., Cohen, T. Tissue Antigens (1983) [Pubmed]
  29. Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography. Batta, A.K., Shefer, S., Batta, M., Salen, G. J. Lipid Res. (1985) [Pubmed]
  30. Use of positive ion fast atom bombardment mass spectrometry for rapid identification of a bile alcohol glucuronide isolated from cerebrotendinous xanthomatosis patients. Dayal, B., Salen, G., Tint, G.S., Shefer, S., Benz, S.W. Steroids (1990) [Pubmed]
  31. Potential application of thin-layer chromatography and thin-layer chromatography with flame ionization detection of cholestanol in the diagnosis of cerebrotendinous xanthomatosis. Michalec, C., Ranný, M. J. Chromatogr. (1988) [Pubmed]
  32. Simplified determination of cholestanol in serum by gas-liquid chromatography: biochemical diagnosis of cerebrotendinous xanthomatosis. Serizawa, S., Seyama, Y., Otsuka, H., Kasama, T., Yamakawa, T. J. Biochem. (1981) [Pubmed]
  33. Reduction of urinary bile alcohol excretion and serum cholestanol in patients with cerebrotendinous xanthomatosis after oral administration of deoxycholic acid. Wolthers, B.G., van der Molen, J.C., Walrecht, H., Hesselmans, L.F. Clin. Chim. Acta (1990) [Pubmed]
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