Extractions: 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
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
Extractions: 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 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.
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
Extractions: 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
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
Extractions: 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
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
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
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
Extractions: 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. 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. Kennedy Krieger Institute
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_
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
Extractions: 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
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend 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 Castelnovo, G Articles by Bouly, S Journal of Neurology Neurosurgery and Psychiatry
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link 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 Bencze, K. S. Articles by Prockop, L. D. Journal of Neurology, Neurosurgery, and Psychiatry, 1990, Vol 53, 166-167 KS Bencze, DR Vande Polder and LD Prockop
Extractions: 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). 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).
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
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
Extractions: 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 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.
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
Extractions: This Article Figures Only Full Text (PDF) Video ... 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 ... Download to citation manager PubMed PubMed Citation Articles by Clemen, C. S. Articles by Dodel, R. To view this item, select one of the options below: Sign In User Name Sign in without cookies.
Extractions: Submit a response 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. 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
Extractions: 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. 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
Extractions: 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 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
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
