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41. Clinical Trial: Phase II Study Of Cholesterol- And Cholestanol-Free Diet, Lovast
cerebrotendinous xanthomatosis, Drug chenodeoxycholic acid Drug lovastatin,Phase II PROTOCOL ENTRY CRITERIA cerebrotendinous xanthomatosis
http://www.clinicaltrials.gov/ct/show/NCT00004346
Home Search Browse Resources ... About Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis This study is currently recruiting patients.
Verified by National Center for Research Resources (NCRR) December 2003 Sponsors and Collaborators: National Center for Research Resources (NCRR) Oregon Health and Science University Information provided by: National Center for Research Resources (NCRR) ClinicalTrials.gov Identifier: Purpose OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in patients with cerebrotendinous xanthomatosis before and after a cholesterol- and cholestanol-free diet. II. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in these patients before and after lovastatin and chenodeoxycholic acid. Condition Intervention Phase Cerebrotendinous Xanthomatosis
Drug: chenodeoxycholic acid
Drug: lovastatin
Phase II

MedlinePlus
related topics: Genetic Disorders Metabolic Disorders Skin Conditions
Study Type: Interventional
Study Design: Treatment Official Title: Effects of Diet and Medication in Patients with Cerebrotendinous Xanthomatosis (CTX) Further Study Details:
Expected Total Enrollment: 5 Study start: January 1996
PROTOCOL OUTLINE: Following a 2-week baseline assessment, patients participate in a feeding study for up to 3 weeks. The diet is free of cholesterol and cholestanol.

42. Clinical Trial: Cholestanol In Humans
The treatment of cerebrotendinous xanthomatosis an in born error of bile acid cerebrotendinous xanthomatosis is a recessively inherited in born of bile
http://www.clinicaltrials.gov/ct/show/NCT00018694
Home Search Browse Resources ... About Cholestanol in Humans This study has been completed. Sponsored by: Department of Veterans Affairs Information provided by: Department of Veterans Affairs ClinicalTrials.gov Identifier: Purpose The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome. Condition Intervention Cerebrotendinous Xanthomatosis
Drug: Chenodeoxycholic Acid
MedlinePlus
related topics: Genetic Disorders Metabolic Disorders Skin Conditions
Study Type: Interventional
Study Design: Treatment, Non-Randomized, Open Label Official Title: Biologic Significance of Cholestanol in Man Further Study Details: Study start: October 1999
Cerebrotendinous xanthomatosis is a recessively inherited in born of bile acid synthesis due to a mutation in sterol 27-hydroxylase (CYP27A1). Patients with this disease suffer from xanthomas located in the brain and tendon, accelerated atherosclerosis progression neurologic disease and cataracts. Plasma cholesterol levels are normal but cholestanol and C-27 bile alcohol that precursor of bile acid synthesis accumulate and are believe are responsible for the atherosclerosis, xanthomas and neurologic disease. Analysis of the bile reveal a severe sufficiency of the primary bile acid chenodeoxycholic acid that can not be produce because of the inherited defect. However, replacement of chenodeoxycholic acid in the enterohepatic pool inhibit abnormal bile acid synthesis and reduces the elevated level of cholestanol and C-27 bile alcohol this therapy halt the neurologic disease and prevents symptomatic atherosclerosis developing.

43. Shunichiro Kubota
Title, Genetic analysis of a Japanese cerebrotendinous xanthomatosis family Title, PET analysis of a case of cerebrotendinous xanthomatosis presenting
http://www.adm.u-tokyo.ac.jp/IRS/IntroPage_E/intro71944557_e.html
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 Inverted-thymidine-modified antisense oligodeoxynucleotide targeting midkine: its design and application for cancer therapy. Source J.Biol.Chem. 277:23800-23806

44. µ×ÊÝÅÄ ½Ó°ìϺ
Translate this page , Genetic analysis of a Japanese cerebrotendinous xanthomatosis family , PET analysis of a case of cerebrotendinous xanthomatosis presenting
http://www.adm.u-tokyo.ac.jp/IRS/IntroPage_J/intro71944557_j.html
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Coexpression of glucose transporter 1 and matrix metalloproteinase-2 in human cancers. J. Natl. Cancer Inst. 94:1080-1091 Inverted-thymidine-modified antisense oligodeoxynucleotide targeting midkine: its design and application for cancer therapy. J.Biol.Chem. 277:23800-23806 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

45. OMIM - CEREBROTENDINOUS XANTHOMATOSIS

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213700

46. Entrez PubMed
cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile cerebrotendinous xanthomatosis is a sterol storage disorder due to an
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

47. Current Opinion In Lipidology - UserLogin
Accumulation cholesterol in cerebrotendinous xanthomatosis patients occurs in The lack of the sterol 27hydroxylase in cerebrotendinous xanthomatosis
http://www.co-lipidology.com/pt/re/colipidology/fulltext.00041433-199904000-0001
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48. Leukodystrophy
cerebrotendinous xanthomatosis is a type of Leukodystrophy which is related to the cerebrotendinous xanthomatosis is characterized by deposits of lipid
http://www.bchealthguide.org/kbase/nord/nord676.htm
var hwPrint=1;var hwDocHWID="nord676";var hwDocTitle="Leukodystrophy";var hwRank="1";var hwSectionHWID="nord676-Header";var hwSource="en-caQ2_05";var hwDocType="Nord";
National Organization for Rare Disorders, Inc.
Leukodystrophy
Important
It is possible that the main title of the report Leukodystrophy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • None
Disorder Subdivisions
  • Refsum's Disease Cerebrotendinous Xanthomatosis Metachromatic Leukodystrophy Globoid Leukodystrophy Krabbe's Disease, Included Adrenoleukodystrophy Sudanophilic Leukodystrophy, Included Schilder's Disease Pelizaeus-Merzbacher Brain Sclerosis Alexanders Disease Canavan's Disease, Included
General Discussion
Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy. The myelin sheath, which acts as insulation of the nervous system, is composed of different lipids (fatty substances). Thus defects in production and degradation of these lipids can lead to the many ways in which these diseases can manifest themselves.
Resources
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205

49. Neurologie
Tachylalia in cerebrotendinous xanthomatosis a new sign? Spinal xanthomatosisa variant of cerebrotendinous xanthomatosis. Brain 1999;12215891595
http://www.umcn.nl/scientist/afdelingen/neurologie/copy_of_smoelenboek/copy6_of_
Neurology
patient
professional scientist student ... algemeen publications
e.g. See Pubmed under van Engelen b, and Engelen b 1. Baziel G.M. van Engelen, Willy O. Renier, Fons J.M. Gabreels, Hans R.M. Cruysberg. Bilateral episodic mydriasis as a migraine equivalent in childhood: a case report. Headache 1991; 31:375-377
2. J.B.M. van de Biezenbos, M.W.I.M. Horstink, C.J.W. van de Vlasakker, B.G.M. van Engelen, O.R. van Eikema Hommes, F. Barkhof. A case of bilateral alternating hemifacial spasms. Movement Disorders 1992; 7:68-70
3. Baziel G.M. van Engelen, Karel B. Lamers, Fons J.M. Gabreels, Ron A. Wevers, Wieneke J.A. van Geel, George F. Borm. Age-related changes of Neuron-specific enolase, S-100 protein, and myelin basic protein concentrations in cerebrospinal fluid. Clinical Chemistry 1992; 38:813-816
4. Baziel G.M. van Engelen, Willy O. Renier, Fons J.M. Gabreels, Hans R.M. Cruysberg. Un caso di midriasi episodica bilaterale come equivalente dell'emicrania nell'infanzia. Update on Parkinson and Migraine 1992; 2:69-71
5. R.A. Wevers, J.R.M. Cruysberg, A.F.J. van Heyst, F.S.M. Jansen-Zijlstra, W.O. Renier, B.G.M. van Engelen, J.J.M. Tolboom. Paediatric cerebrotendinous xanthomatosis. Journal of Inherited Metabolic Disease 1992; 15:374-376

50. Hadassah Medical Center
E. Leitersdorf, Meiner V cerebrotendinous xanthomatosis. 1994. Current Opinionsin Lipidology. Meiner V, Leitersdorf E cerebrotendinous xanthomatosis.
http://www.hadassah.org.il/English/Eng_SubNavBar/TheDoctors/meinervardiella.htm
Home About Departments Medical Services Clinics Nursing profession ... Publications International Patient Contact Home Hadassah Doctors Hadassah Doctors
Dr. Vardiella Meiner Senior physician in the Department of Human Genetics, since 1994. DOB: 8.3.1959 Address: 6 Tiltan Street Jerusalem Phones:(Home) 972-2-6416065 (Mobile) 972-50-7874163 (Office) 972-2-6777618 E.mail: vmeiner@hadassah.org.il Education Hebrew University-Hadassah Medical School, Jerusalem M.D., 1986 BSc. Graduated cum laude, 1982 Training / Positions Hadassah University Hospital, Jerusalem Senior physician Internal Medicine, 1991-1992 Department of Human Genetics, 1994- Residency Internal Medicine B, 1987-1991 Department of Human Genetics, 1992-1994 Internship The Gladstone Institute of Cardiovascular Disease, San Francisco, 1986-1987 Research fellow, 1994-1997 Research and Academic Background Center for Research, Prevention and Treatment of Atherosclerosis, Hadassah University Hospital, Jerusalem Senior Scientist, 1997- Research Associate, 1991-1993 Hebrew University Medical School, Jerusalem Senior Lecturer in Human Genetics, 2001

51. Cerebrotendinous Xanthomatosis -- Castelnovo Et Al. 74 (9): 1335 -- Journal Of N
cerebrotendinous xanthomatosis. G Castelnovo , L Jomir and S Bouly. Department ofNeurology, Caremeau Hospital, CHU Nimes, France. For correspondence
http://jnnp.bmjjournals.com/cgi/content/full/74/9/1335

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NEUROLOGICAL PICTURE
Cerebrotendinous xanthomatosis
G Castelnovo L Jomir and S Bouly Department of Neurology, Caremeau Hospital, CHU Nimes, France For correspondence:
G Castelnova, Department of Neurology, Caremeau Hospital, CHU Nimes, France;
A 37 year old patient was admitted for a generalised seizure. He was treated with valproic acid for partial epilepsy. Neurological examination revealed a cerebellar and pyramidal syndrome, moderate

52. Magnetic Resonance Imaging Of The Brain And Spinal Cord In Cerebrotendinous Xant
This reports a 40 year old man with cerebrotendinous xanthomatosis who had cerebrotendinous xanthomatosis The Spectrum of Imaging Findings and the
http://jnnp.bmjjournals.com/cgi/content/abstract/53/2/166

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PAPERS
Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis
KS Bencze, DR Vande Polder and LD Prockop
Department of Neurology, College of Medicine, University of South Florida, Tampa. This reports a 40 year old man with cerebrotendinous xanthomatosis who had bilateral cataracts, enlarged Achilles tendons, progressive dementia, gait

53. Cerebrotendineuze Xanthomatosis ( Cerebrotendinous Xanthomatosis)
Cerebrotendineuze xanthomatosis. cerebrotendinous xanthomatosis ( CTX ) Cerebrotendineuze xanthomatosis (CTX) is een erfelijke stofwisselingsziekte in
http://www.homepages.hetnet.nl/~b1beukema/ctx.html

Cerebrotendineuze xanthomatosis
Cerebrotendinous xanthomatosis ( CTX ) Ned Tijdschr Klin Chem 1999; 24: 166-170 Cerebrotendineuze xanthomatosis A. VERRIPS 1 , R.A. WEVERS 2, L.P.W.J. van den HEUVEL 2, B.G.M. van ENGELEN 3, A. KEYSER3 en F.J.M. GABREELS 1 In dit artikel wordt een overzicht gegeven van cerebrotendineuze xanthomatosis (CTX).
Tot nu toe zijn er ongeveer 200 patiënten beschreven.
In Nederland is de diagnose bij 41 patiënten gesteld.
Deze ziekte is in Nederland in de jaren tachtig bestudeerd door de Groningse groep, de resultaten van deze studie zijn beschreven in het proefschrift van Koopman (1).
Door onbekendheid met deze ziekte wordt de diagnose CTX nog te weinig gesteld.
Naast een kort historisch overzicht worden de klinische verschijnselen van deze ziekte, de pathofysiologie, diagnostiek, aanvullend onderzoek, genetica en therapie besproken. De eerste beschrijving door van Bogaert van cerebrotendineuze xanthomatosis dateert van 1937 (2). Menkes meldde in 1968 dat het centrale zenuwstelsel een verhoogd gehalte aan cholestanol bevat (3). Salen ontdekte in 1971 een abnormale galsamenstelling, dat wil zeggen zeer lage concentraties chenodeoxycholzuur (CDCZ) (4).
Deze bevinding leidde tot de ontdekking van het defect in de galzuursynthese (5) en de start van de therapie met CDCZ welke een remmend effect bleek te hebben op de synthese van cholesterol en cholestanol bij CTX patiënten (6).

54. The American Journal Of Surgical Pathology - UserLogin
cerebrotendinous xanthomatosis the spectrum of imaging and the correlation with cerebrotendinous xanthomatosis in Israeli druze molecular genetics and
http://www.ajsp.com/pt/re/ajsp/fulltext.00000478-200210000-00007.htm
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55. Malaysia Medical Association
cerebrotendinous xanthomatosis with Cholestanolaemia Involvement of Five cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease
http://www.mma.org.my/info/4_original_90.htm
Malaysian Medical Association Back Cerebrotendinous Xanthomatosis with Cholestanolaemia - Involvement of Five Individuals in a Malay Family
Nor Hayati Othman, MPath, Sabariah Abdul Rahman, MPath, Department of Pathology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan Summary Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia. Key Words : Cerebrotendinous Xanthomatosis, Cholestanolaemia, Involvement of Five Individuals in a Malay Family
Ultrasound in the Diagnosis of Palpable Abdominal Masses in Children
Zulfiqar Annuar, MMed*, Abdul Samad Sakijan, FRCR*, Norizan Annuar, DCP**, Goon Hong Kooi, FRACS***, *Departments of Radiology, **Pathology and ***Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur Summary Ultrasound examinations were done to evaluate clinically palpable abdominal masses in 125 children. The examinations were normal in 21 patients. In 15 patients, the clinically palpable masses were actually anterior abdominal wall abscesses or hematomas. Final diagnosis was available in 87 of 89 patients with intraabdominal masses detected on ultrasound. The majority (71%) were retroperitoneal masses where two-thirds were of renal origin. Ultrasound diagnosis was correct in 68 patients (78%). All cases of hydronephrosis were correctly diagnosed based on characteristic ultrasound appearances. Correct diagnoses of all cases of adrenal hematoma, psoas abscess, liver hematoma, liver abscess and one case of liver metastases were achieved with correlation of relevant clinical information.

56. Neurology -- Sign In Page
cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder causedby mutations Meiner V, Leitersdorf E. cerebrotendinous xanthomatosis.
http://www.neurology.org/cgi/content/full/64/8/1476
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Cerebrotendinous xanthomatosis: A treatable ataxia
Clemen et al. Neurology.
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57. Japanese Triplets With Cerebrotendinous Xanthomatosis Are Homozygous For A Mutan
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutantgene coding for the sterol 27hydroxylase (Arg441Trp)
http://www.neurology.org/cgi/content/abstract/46/2/571
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Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Nagai, Y. Articles by Ueno, S.
ARTICLES
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp)
Y Nagai, M Hirano, T Mori, Y Takakura, S Tamai and S Ueno
Department of Medical Genetics, Nara Medical University, Nara, Japan. We present the first case of triplets with cerebrotendinous xanthomatosis (CTX). A C-to-T base change identified in the genomic DNA and cDNA encoding the sterol 27-hydroxylase led to replacement of arginine by tryptophan at position 441 (Arg441Trp) in the triplets. The triplets were homozygous and

58. Cerebrotendinous Xanthomatosis (van Bogaert-Scherer-Epstein Disease): CT And MR
Quantification of Brain Damage in cerebrotendinous xanthomatosis with cerebrotendinous xanthomatosis The Spectrum of Imaging Findings and the
http://www.ajnr.org/cgi/content/abstract/15/9/1721
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This Article Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Dotti, M. T. Articles by Guazzi, G. C.
REVIEWS
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings
MT Dotti, A Federico, E Signorini, N Caputo, C Venturi, G Filosomi and GC Guazzi
Istituto di Scienze Neurologiche, Universita di Siena, Italy. PURPOSE: To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings. METHODS: Ten patients with well- defined clinical and biochemical diagnoses of cerebrotendinous xanthomatosis were examined. Brain CT was performed in eight cases. In all patients MR was obtained

59. Quantification Of Brain Damage In Cerebrotendinous Xanthomatosis With Magnetizat
cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder dueto a cerebrotendinous xanthomatosis defective liver mitochondrial
http://www.ajnr.org/cgi/content/full/24/3/495
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This Article Abstract Figures Only Full Text (PDF) ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Inglese, M. Articles by Filippi, M. American Journal of Neuroradiology 24:495-500, March 2003
American Society of Neuroradiology
BRAIN
Quantification of Brain Damage in Cerebrotendinous Xanthomatosis with Magnetization Transfer MR Imaging
Matilde Inglese a Nicola DeStefano c Elisabetta Pagani a Maria T. Dotti c Giancarlo Comi b Antonio Federico c and Massimo Filippi a a Neuroimaging Research Unit, Department of Neuroscience, Milan, Italy
b Department of Neurology, Scientific Institute and University Ospedale San Raffaele, Milan, Italy
c Neurometabolic Unit, Institute of Neurological Sciences, University of Siena, Siena, Italy Address reprint requests to Massimo Filippi, MD, Neuroimaging Research Unit, Department of Neuroscience, Scientific Institute and University Ospedale San Raffaele, Via Olgettina, 60, 20132 Milan, Italy; e-mail: m.filippi@hsr.it
Abstract TOP
Abstract
Introduction
Methods Results Discussion Conclusion References BACKGROUND AND PURPOSE: Conventional MR imaging for quantification of brain damage in monitoring the evolution of cerebrotendinous xanthomatosis (CTX) has limitations. Magnetization transfer

60. Psychiatric Disorders In Patients With Cerebrotendinous
cerebrotendinous xanthomatosis is a familial recessive disorder. The authorsdescribe four patients with cerebrotendinous xanthomatosis and prominent
http://ajp.psychiatryonline.org/cgi/content/abstract/145/3/354

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