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41. GEMdatabase - Selected Title
TITLE cerebrotendinous xanthomatosis. DATE July 2003. COST CONDITIONS CerebrotendinousXanthomatosis, Metabolic Disorders, Mitochondrial Disorders. SUBJECTS

42. GEMdatabase - Browse Titles
cerebrotendinous xanthomatosis This review focuses on the diagnosis, management,and genetic counseling of patients and families with cerebrotendinous

43. Cerebrotendinous Xanthomatosis In A Family
RG Kar Medical College, Calcutta700004. cerebrotendinous xanthomatosisin a family. Indian Journal of Dermatology. 1999 Jul-Sep; 44(3) 153-6.
Extracted from IndMED Chatterjee G; Chakraborty I; Das TK; Datta C R.G. Kar Medical College, Calcutta-700004 Cerebrotendinous xanthomatosis in a family Indian Journal of Dermatology. 1999 Jul-Sep; 44(3): 153-6 ABSTRACT: A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs. The sisters had bilateral juvenile cataracts in addition to achilles tendon xanthomas. The serum cholesterol level in all the three was within normal limits. The FNAC and histopathology of tendinous swelling showed touton giant cells and foam cells. A diagnosis of cerebrotendinous xanthomatosis was made on the basis of achilles tendon xanthomas, bilateral cataracts and normal serum cholesterol. KEYWORDS: Xanthomatosis, Cerebrotendinous/DI; Xanthomatosis, Cerebrotendinous/PA; Cataract; Achilles Tendon/PA; Cholesterol/BL; Central Nervous System/PP; Bile Acids and Salts; Hydroxylases/DF; Biopsy; Case Report; Child; Adolescence; Male; Female; Human References: 9 Record Identifier: NI201272

44. - Conditions And Diseases/Nutrition And Metabolism Disorders/Ch
Category cerebrotendinous xanthomatosis. Conditions and Diseases/Nutrition and MetabolismDisorders/Cholesterol and Other Fats/cerebrotendinous xanthomatosis.
Category: Cerebrotendinous Xanthomatosis
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45. Journal Of Arthroplasty And Arthroscopic Surgery
12, No1 (9193), 2001 cerebrotendinous xanthomatosis. cerebrotendinous xanthomatosisis a rare metabolic disease of autosomal recessive inheritance.
Arthroplasty Arthroscopic Surgery
Vol. 12, No:1 (91-93), 2001 Cerebrotendinous Xanthomatosis
Fatih EKSIOGLU, Eftal GUDEMEZ, Onder BOZDOGAN, Deniz ALTINOK, Sedat ULKATAN Cerebrotendinous Xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clinical findings include, tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. We report a case aged 17 had painless, semimobile, solid masses on her both achilles tendon diagnosed as Cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis must be considered in the diagnosis of patients with tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. Key Words : Cerebrotendinous Xanthomatosis, Achilles Tendon. BACK TO INDEX PAGE

46. Program Nr 679
Program Nr 679 cerebrotendinous xanthomatosis(CTX). The first mexicanfamily reported. IA Gamboa 1 , CF Salinas 2 , R. Mendivil
Program Nr: 679 Cerebrotendinous xanthomatosis(CTX). The first mexican family reported. I.A. Gamboa , C.F. Salinas , R. Mendivil , J.M. Aparicio , T.A. Carvajal

47. Xanthoma
cerebrotendinous xanthomatosis a rare disease with diverse manifestations. Thisminireview deals with a new appraisal of cerebrotendinous xanthomatosis.
Background Cutaneous xanthomas are often a manifestation of underlying lipid abnormalities. There are many different types classified both by clinical and histopathologic criteria. OUTLINE Gross Appearance and Clinical Variants Bone
Tuberous Histopathological Features and Variants Papular
Plexiform xanthomatous
Verruciform Special Stains/Immunohistochemistry/Electron Microscopy Differential Diagnosis Prognosis Treatment ... Internet Links
Benign fibrohistiocytoma (xanthomatous variant) of the acromion. A case report and review of the literature. Macdonald D, Fornasier V, Holtby R.
Arch Pathol Lab Med 2002 May;126(5):599-601Abstract quote A number of fibrous lesions involving bone display almost identical histologic appearances yet may represent either reactive or neoplastic conditions, resulting in a confusing nomenclature and possible diagnostic confusion. We report the case of a young man with no significant previous medical history who presented with a painful lesion in the left shoulder, which consisted almost entirely of xanthomatous material. We discuss the possible differential diagnosis of this lesion and why benign fibrous histiocytoma is the preferred terminology for this lesion.

48. Cerebrotendinous Xanthomatosis From Linkspider UK Health Directory
cerebrotendinous xanthomatosis by Linkspider UK, cerebrotendinous xanthomatosislinks and cerebrotendinous xanthomatosis topics from our Health directory.
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49. Dictionary Definition Of CEREBROTENDINOUS XANTHOMATOSIS More results from Clinical Trial Phase II Study of Cholesterol- and Cholestanol Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin,and Chenodeoxycholic Acid for cerebrotendinous xanthomatosis.
Browse Dictionary by alphabet A B C D ... Z Top Words Ce
ceasmic teratosis


cell nucleolus

A disorder with deposition of cholestanol in the brain and other tissues and high levels in plasma but with normal cholesterol level; characterised by progressive cerebellar ataxia beginning after puberty, juvenile cataracts, spinal cord involvement, and tendinous or tuberous xanthomata; autosomal recessive inheritance. Probably due to a defect in hepatic mitochondrial 26-hydroxylase in bile acid biosynthesis.
Synonym: cerebrotendinous cholesterinosis.
Please select first two letters of word you are looking for CA CB CC CD ... CZ fiSearchFormMaxSetId='AX006027'; Top Words cell nucleus
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50. - Diseases Of Bone And Calcium Metabolism, Ch 9 Bibliography
Hsieh, CL, Francke, U., Russell, DW 1991 Mutations in the bile acid biosyntheticenzyme sterol 27hydroxylase underlie cerebrotendinous xanthomatosis J Biol
1. Whistler, D. 1645 De morbo puerli anglorum, quem patrio ideiomate indigenae vocant "the rickets" J Hist Med;5:397-415. 2. Mellanby, E. 1919 An experimental investigation on rickets. Lancet;1:407-412. 3. McCollum, E.V., Simmonds, N., Becker, J.E., Shipley, P.G. 1922 An experimental demonstration of the existence of a vitamin which promotes calcium deposition J Biol Chem;53:293-298. 4. Steenbock, H., Black, A. 1924 Fat-soluble vitamins. XVII. The induction of growth-promoting and calcifying properties in a ration by exposure to ultraviolet light J Biol Chem;61:405-422. 5. Huldshinsky, K. 1919 Heilung von rachitis durch kunstalich hohensonne Deut Med Wochenschr;45:712-713. 6. Hess, A.F., Unger, L.F. 1921 Cure of infantile rickets by sunlight J Am Med Assoc;77:39. 7. F.A., A., Bourdillon, R.B., Bruce, H.M., Jenkins, R.G.C., Webster, T.A. 1931 The distillation of vitamin D Proc R Soc;B107:76-90. 8. Windaus, A., Schenck, F., von Werder, F. 1936 Uber das antirachitisch wirksame bestrahlungs-produkt aus 7-dehydro-cholesterin. Hoppe-Seylers Z Physiol Chem;241:100-103. 9. Holick, M.F., Richtand, N.M., McNeill, S.C., Holick, S.A., Henley, J.W., J.T., P.J. 1979 Isolation and identification of previtamin D3 from the skin of exposed to ultraviolet irradiation Biochemistry;18:1003-1008.

51. 1998 - Journal Of Dermapathology
Özet cerebrotendinous xanthomatosis (CTX) tanisi alan 43 yasindaki erkekhastanin 25 senedir sol topukta asil tendonu üzerinde ve diz altinda, 4
Year:1998 No:1-2 Vol:8 Serebrotendinöz Ksantomatozis*
Dr. Gülçin ALTINOK1, Dr. Aytaç GÖKÖZ1, Dr. Eser YÜKSEL2
Hacettepe Üniversitesi Týp Fakültesi Patoloji1, Plastik ve Rekonstrüktif2 Cerrahi Anabilim Dalý
Cerebrotendinous xanthomatosis (CTX) tanýsý alan 43 yaþýndaki erkek hastanýn 25 senedir sol topukta aþil tendonu üzerinde ve diz altýnda, 4 senedir sað topukta aþil tendonu üzerinde ve sað dizde semimobil ve aðrýsýz kitleleri mevcuttu. Oldukça nadir olan ve otozomal resessif olarak geçen CTX'in klinik bulgularý; tendinöz ksantomalar, katarakt, nörolojik fonksiyon bozukluðu, demans, ataksi, hafifçe yüksek serum kolesterol seviyesi ve koroner arter hastalýðýdýr. Çoðunlukla lezyonlar el ve ayakta ekstensör tendonlarýn üzerinde ortaya çýkabileceði gibi aþil ve patella tendonlarý da tutulabilmektedir.
Anahtar sözcükler: Serebrotendinöz ksantomatozis, aþil tendonu, ksantoma
Cerebrotendinous xanthomatosis
The patient aged 43, had semimobile, painless grayish yellow masses on his left achilles tendon for 25 years and right achilles tendon and knee for 4 years, diagnosed as Cerebrotendinous Xanthomatosis (CTX).

52. Shunichiro Kubota
256198203. Year, 1999. Title, Genetic analysis enables definite and rapid diagnosisof cerebrotendinous xanthomatosis. Source, Neurology 51865-867. Year, 1998.
Name Shunichiro Kubota Job Title Professor Function Name Graduate School of Arts and Sciences,College of Arts and Sciences
Multi-Disciplinary Sciences
Exercise Adaptability Lecture Course Undergraduate
Program in the
1st Semester Undergraduate
Program in the
2nd Semester Graduate School Study Field MEDICINE
/Internal Medicine
/Internal Medicine in General INTERDISCIPLINARY AREA
/Biological Chemistry
/Functional Biochemistry INTERDISCIPLINARY AREA /Environmental Science /Environmental Influence Assessment (including Radiobiology) Current Study Theme Signal transduction induced by oxidative stress Establishment of a new drug delivery system for treatments of cancer Metabolism of environmental hormone Study Contents by Key Word cancer, collagen, signal transduction, oxidative stress Literary Works (Books,Writings), Research Paper Title Coexpression of glucose transporter 1 and matrix metalloproteinase-2 in human cancers. Source J. Natl. Cancer Inst. 94:1080-1091 Year Title Overexpression of ornithine decarboxylase enhances endothelial proliferation by suppressing endostatin expression. Source Blood 99 :1478-1481 Year Title Allopurinol suppresses paranonylphenol and 1-methyl-4-phenylpyridinium ion-induced hydroxyl radical generation in rat striatum.

53. µ×ÊÝÅÄ ½Ó°ìϺ
256198203. ?, 1999. , Genetic analysis enables definite and rapid diagnosisof cerebrotendinous xanthomatosis. , Neurology 51865-867. ?, 1998.
Coexpression of glucose transporter 1 and matrix metalloproteinase-2 in human cancers. J. Natl. Cancer Inst. 94:1080-1091 Overexpression of ornithine decarboxylase enhances endothelial proliferation by suppressing endostatin expression. Blood 99 :1478-1481 Allopurinol suppresses paranonylphenol and 1-methyl-4-phenylpyridinium ion-induced hydroxyl radical generation in rat striatum. Neurosci.Lett. 306 :9-12 Anti-alpha integrin antibody induces secretion and activation of 72 kDa progelatinase by human fibroblasts. Biochem.Mol.Biol.Int. 51: 1-7 Antisense oligonucleotides targetted to midkine, a heparin-binding growth factor, suppresses tumorigenicity of mouse rectal carcinoma cells. Cancer Res.61:8486-8491 Calreticulin is directly involved in anti-a3 integrin antibody-mediated secretion and activation of matrix metalloprotease-2. Biochem.Biophys.Res. Commun. 283: 297-302 Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27). J.Inherit.Metab.Dis. 24: 379-392

54. Biosynthesis Of 5a-Cholestan-3b-ol In Cerebrotendinous Xanthomatosis
Clin Invest. 1972 January; 51 (1) 134 140 Biosynthesis of 5aCholestan-3b-olin cerebrotendinous xanthomatosis. Gerald Salen and

Invest. 1979 January; 63 (1) 38 44 Cholic Acid Biosynthesis. THEENZYMATIC DEFECT IN cerebrotendinous xanthomatosis. Gerald Salen

56. Xanthomatosis, Cerebrotendinous
Van BogaertScherer-Epstein Disease; Bogaert-Scherer-Epstein Disease, Van; CerebrotendinousXanthomatoses; cerebrotendinous xanthomatosis; Disease, Van Bogaert, Cerebrotendinous - Medical Terminology Dictionary
A B C D ... Z
Xanthomatosis, Cerebrotendinous
Van Bogaert-Scherer-Epstein Disease; Bogaert-Scherer-Epstein Disease, Van; Cerebrotendinous Xanthomatoses; Cerebrotendinous Xanthomatosis; Disease, Van Bogaert-Scherer-Epstein; Van Bogaert Scherer Epstein Disease A lipid storage disease , inherited as an autosomal recessive trait, characterized by xanthomas of the tendons , the white matter of the brain , and the lungs, and by spasticity, ataxia , pyramidal paresis mental retardation dementia , early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves . The lesions contain cholesterol and dehydro cholesterol . (Dorland, 28th ed)
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57. GeneCard For OR10G7
cytochrome P450C27/25; cytochrome P450, subfamily XXVII (sterol 27-hydroxylase,cerebrotendinous xanthomatosis); cytochrome P450, subfamily

58. QJMed -- Abstracts: Watts Et Al. 89 (1): 55
Press. ORIGINAL PAPERS. cerebrotendinous xanthomatosis a family studyof sterol 27hydroxylase mutations and pharmacotherapy. GF Watts
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Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy
GF Watts, WD Mitchell, JJ Bending, A Reshef and E Leitersdorf
University Department of Medicine, University of Western Australia, Perth. We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than tenfold elevation in plasma cholestanol and combined hyperlipidaemia. His brother also had typical features of CTX without the presence of dyslipidaemia. Genotyping revealed that the two brothers were compound

59. PharmGKB: Xanthomatosis, Cerebrotendinous
Alternate Names BogaertScherer-Epstein Disease, Van; Cerebrotendinous Xanthomatoses;cerebrotendinous xanthomatosis; Disease, Van Bogaert-Scherer-Epstein

60. Journal Of Internal Medicine Abstract
Coronary heart disease in a patient with cerebrotendinous xanthomatosis. Coronaryheart disease in a patient with cerebrotendinous xanthomatosis (Case report).

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