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Cerebrotendinous Xanthomatosis

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Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, disabling genetic disorder in which cholestanol and cholesterol accumulate in the nervous system and other tissues. It has an autosomal recessive mode of inheritance. Most patients are of low intelligence, and their school performance is poor, especially during the later years. The more specific clinical manifestations, however, appear in late childhood or early adolescence and involve the xanthomas of tendons, especially the Achilles tendons, the tendons of the quadriceps muscle, and the finger extensors. Furthermore, cataracts develop and during the second or third decade a slowly progressive cerebellar ataxia. Epilepsy in the form of generalized tonic-clonic seizures often has its onset in the third decade. Gradually spasticity of the legs arises, associated with loss of vibratory and position senses whereas the superficial sensory modalities remain intact. There is a slow mental deterioration. In the final stages of the disease, myoclonus of the palate and tongue are found, fibrillation of the tongue, pseudobulbar palsy, visual loss with optic atrophy, muscular wasting and loss of sphincter control. Death usually occurs in the sixth or seventh decade and is often due to unrelated causes. Premature coronary heart disease may occur, and pulmonary xanthomas may impair lung function.

Keywords

  • Bile Acid
  • Achilles Tendon
  • Bile Acid Synthesis
  • Impair Lung Function
  • Autosomal Recessive Mode

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  • Abramov A, Schorr S, Wolman M (1956) Generalized xanthomatosis with calcified adrenals. Am J Dis Child 91: 282–286

    CAS  Google Scholar 

  • Argov Z, Soffer D, Eisenberg S, Zimmerman Y (1986) Chronic demyelinating peripheral neuropathy in cerebro-tendinous xanthomatosis. Ann Neurol 20: 89–91

    PubMed  CrossRef  CAS  Google Scholar 

  • Ballantyne CM, Vega GL, East C, Richard G, et al. (1987) Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. Metabolism 36: 270–276

    PubMed  CrossRef  CAS  Google Scholar 

  • Barron JL, Maxwell JU, Rutherford GS (1982) Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control. J Inher Metab Dis 5: 91–93

    PubMed  CrossRef  CAS  Google Scholar 

  • Berginer VM, Salen G, Sheffer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311: 1649–1652

    PubMed  CrossRef  CAS  Google Scholar 

  • Björkhem I, Skrede S, Buchmann MS, East C, et al. (1987) Accumulation of 7a-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. Hepatology 7: 266–271

    PubMed  CrossRef  Google Scholar 

  • Bouwes Bavinck JN, Vermeer BJ, Gevers Leunen JA, Koopman BJ, et al. (1986) Capillary gas chromatography of urine samples in diagnosing cerebrotendinous xanthomatosis. Arch Dermatol 122: 1269–1272

    PubMed  CrossRef  CAS  Google Scholar 

  • Goldfischer S (1982) Peroxisomes and human metabolic diseases: the cerebrohepatorenal syndrome (Chrs), cerebro-tendinous xanthomatosis, and Schilder’s disease (adrenoleukodystrophy). Ann NY Acad Sci 386: 526–529

    CrossRef  Google Scholar 

  • Goldfischer S, Reddy JK (1984) Peroxisomes (microbodies) in cell pathology. Int Rev Exp Pathol 26: 45–84

    PubMed  CAS  Google Scholar 

  • Goldfischer S, Sobel HJ (1981) Peroxisomes and bile-acid synthesis. Gastroenterology 81: 196–197

    PubMed  CAS  Google Scholar 

  • Grundy SM (1984) Cerebrotendinous xanthomatosis. N Engl J Med 26: 1694–1695

    CrossRef  Google Scholar 

  • Jervis GA (1970) Rare or nosologically obscure neurolipidoses. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 542–555

    Google Scholar 

  • Koopman BJ, Molen van der JC, Wolthers BG, Waterreus RJ (1987) Screening for cerebrotendinous xanthomatosis by using an enzymatic assay for 7a-hydroxylated steroids in urine. Clin Chem 33: 142–143

    PubMed  CAS  Google Scholar 

  • Koopman BJ, Wolthers BG, Molen van der JC, Slik van der W, et al. (1988) Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in the Netherlands. J Inher Metab Dis 11: 56–75

    PubMed  CrossRef  CAS  Google Scholar 

  • Lewis B, Mitchell WD, Marenah CB, Cortese C, et al. (1983) Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis. Brit Med J 287: 21–22

    CrossRef  CAS  Google Scholar 

  • Menkes JH (1970) Cerebrotendinous xanthomatosis. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 532–541

    Google Scholar 

  • Nausieda PA, Klawans HL (1971) Lipid storage disorders. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 29. Amsterdam: North Holland Publishing Company: 374–379

    Google Scholar 

  • Salen G, Shefer S, Tint GS, Nicolau B, et al. (1985) Biosynthesis of bile acids in cerebrotendinous xanthomatosis. J Clin Invest 76: 744–751

    PubMed  CrossRef  CAS  Google Scholar 

  • Salen G, Zaki FG, Sabesin S, Boehme D, et al. (1978) Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis ( CTX ). Gastroenterology 74: 82–89

    Google Scholar 

  • Shefer S, Cheng FW, Dayal B, Hauser S, et al. (1976) A 25-hydroxylation pathway of cholic acid biosynthesis in man and rat. J Clin Invest 57: 897–903

    PubMed  CrossRef  CAS  Google Scholar 

  • Skrede S, Björkhem I, Kvittingen EA, Buchmann MS, et al. (1986) Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis. J Clin Invest 78: 729–735

    CrossRef  Google Scholar 

  • Waterreus RJ, Koopman BJ, Wolthers BG, Oosterhuis HJGH (1987) Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in the Netherlands. Clin Neurol Neurosurg 89: 169–175

    PubMed  CrossRef  CAS  Google Scholar 

  • Wolman M (1976) Xanthomatoses. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 27. Amsterdam: North Holland Publishing Company: 241–254

    Google Scholar 

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© 1989 Springer-Verlag Berlin Heidelberg

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Valk, J., van der Knaap, M.S. (1989). Cerebrotendinous Xanthomatosis. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02568-0_21

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  • DOI: https://doi.org/10.1007/978-3-662-02568-0_21

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