Inherited cholesterol lipidosis: Cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). A clinicopathological study

Clinical Neuropathology

Volumn 24, Issue 6, 2005, Pages 276-283

  Isenhardt, K ^a,c   Schmitt, R ^a   Nagel, A ^b   Drach, L ^c   Schlote, W ^c  

^a KLINIKUM ASCHAFFENBURG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c GOETHE UNIVERSITY   (Germany)

Author keywords

Cerebrotendinous xanthomatosis; Cholesterol crystals; Foamy cell granuloma; Lipid storage disease

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

ADULT; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; DEMYELINATION; DISEASE COURSE; FOAM CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIPID STORAGE; LIPIDOSIS; MALE; PATHOGENESIS; PRIORITY JOURNAL;

ADULT; CHENODEOXYCHOLIC ACID; GASTROINTESTINAL AGENTS; HUMANS; MALE; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 27944475836     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Ben Hamida M, Chabbi N, Ben Hamida C, Mhiri C, Kallel R 1991 Neuropatie péripherique dans un cas sporadique de xanthomatose céré brotendineuse. Rev Neurol 147: 385-388
2. Berigner VM, Salen G, Shefer S 1984 Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311: 1649-1650
3. Cali J, Hsieh CI, Franche U, Russel D 1991 Mutations in the bile and biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266: 7779-7783
4. Donaghy M, King RHM, McKeran RO, Schwartz MS, Thomas PK 1990 Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid. J Neurol 237: 216-219
5. Koopman BJ, Wolthers BG, van der Molen JC, van der Slik W, Waterreus RJ, van Spreeken A 1989 Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in the Netherlands. J Inherit Metab Dis 11: 56-75
6. Kuriyama M, Fujiyama J, Yoshidome H, Takenaga S, Matsumoro K, Kasama T, Fukuda K, Kuramoto T, Hoshita T, Seyama Y, Okatu Y, Osame M 1991 Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci 102: 225-232
7. Heller R, Grau AJ, Schäbitz WR, Schwaninger M 2002 Zerebrotendinöse Xanthomatose: Eine behandelbare Stoffwechselerkrankung. Nervenarzt 73: 1160-1166
8. Meiner V, Meiner Z, Reshef A, Björkhem I, Leitersdorf E 1994 Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology 44: 288-290
9. Menkes JH, Schimschock JR, Swanson PD 1968 Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous System. Arch Neurol 19: 47-53
10. Mondelli M, Sicurelli F, Scarpini C, Dotti MT, Federico A 2001 Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci 190: 29-33
11. Pop PH, Joosten E, van Spreeken A, Gabreels-Festen A, Jaspar H, ter Laak H, Vos A 1984 Neuroaxonal pathology of central peripheral nervous system in cerebrotendinous xanthomatosis (CTX). Acta Neuropathol 64: 259-264
12. Salen G 1971 Cholestanol deposition in cerebrotendinous xanthomatosis. Apossible mechanism. Ann Med 75: 843-851
13. Salen G, Shefer S, Berigner VM 1983 Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis. In: Stanburry JB, Wyngarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The Metabolic Basis of Inherited Disease (5th edn). McGraw-Hill, New York, pp 714-724
14. Schimschock JR, Alvord EC, Swanson PD 1968 Cerebrotendinous xanthomatosis. Clinical and Pathological studies. Arch Neurol 18: 688-698
15. Shapiro S 1983 Depression in a patient with dementia secondary to cerebrotendinous xanthomatosis. J Nerv Ment Dis 171: 586-571
16. Soffer D, Benharroch D, Berigner V 1995 The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. Acta Neuropathol 90: 213-220
17. Stahl WL, Sumi SM, Swanson PD 1971 Subcellular distribution of cerebral cholestanol in cerebrotendinous xanthomatosis. J Neurochem 18: 403-413
18. Van Bogaert L, Scherer HJ, Epstein E 1937 Une forme céré brale de la cholestérinose généralisée. Masson et Cie, Paris
19. Verrips A, van Engelen BGM, ter Laak H, Gabreels-Feesten A, Janssen A, Zwarts M, Wevers RA, Gabreels FJM 2000 Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients. Neuromusc Dis 10: 407-414
20. Voiculescu V, Alexianu M, Popescu-Tismana G, Pastia M, Petrovici A, Dan A 1987 Polyneuropathy with lipid deposits in Schwann cells and axonal degeberation in cerebrotendinous xanthomatosis. J Neurol Sci 82: 89-99