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Cerebrotendinous Xanthomatosis

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An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

Also Known As:

Xanthomatosis, Cerebrotendinous; Cerebral Cholesterinosis; Bogaert-Scherer-Epstein Disease, Van; Cerebral Cholesterinoses; Cerebrotendinous Xanthomatoses; Disease, Van Bogaert-Scherer-Epstein; Van Bogaert Scherer Epstein Disease; Xanthomatoses, Cerebrotendinous; Van Bogaert-Scherer-Epstein Disease

Networked: 285 relevant articles (1 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Atherosclerosis
2.	Rare Diseases (Rare Disease)
3.	Diabetes Mellitus
4.	Zellweger Syndrome (Zellweger's Syndrome)
5.	Neurodegenerative Diseases (Neurodegenerative Disease)

Experts

1.	Björkhem, Ingemar: 9 articles (11/2014 - 07/2002)
2.	Dotti, M T: 7 articles (01/2013 - 01/2001)
3.	Federico, A: 7 articles (01/2013 - 01/2001)
4.	Bonnot, Olivier: 4 articles (09/2015 - 04/2010)
5.	Gallus, G N: 4 articles (01/2013 - 06/2006)
6.	Verrips, A: 4 articles (12/2008 - 05/2000)
7.	Leitersdorf, E: 4 articles (09/2001 - 06/2000)
8.	Chang, Wen-Neng: 3 articles (03/2014 - 05/2002)
9.	Sedel, F: 3 articles (02/2013 - 10/2007)
10.	Mignarri, A: 3 articles (01/2013 - 10/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cerebrotendinous Xanthomatosis:

1.	SterolsIBA 05/15/2011 - "Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis." 01/01/1988 - "Therefore early detection of the presence of cerebrotendinous xanthomatosis is desirable so that treatment can start before extensive storage of sterols is a fact. " 05/15/2011 - "In this study we profile free 3-oxo sterols present in plasma from patients affected with the neurodegenerative disorder of sterol and bile acid metabolism cerebrotendinous xanthomatosis (CTX), utilizing a combination of charge-tagging and LC-ESI-MS(n) performed with an LTQ-Orbitrap Discovery instrument. " 05/14/1987 - "These results suggest that increased cerebrospinal fluid sterols are derived from plasma lipoproteins by means of a defective blood-brain barrier in patients with cerebrotendinous xanthomatosis. " 01/01/1971 - "Cerebrotendinous xanthomatosis: in vivo labeling of cerebral sterols and sterol esters."
2.	SitosterolemiaIBA 04/01/1988 - "[Cerebrotendinous xanthomatosis and phytosterolemia]." 08/01/1981 - "A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia." 07/01/2013 - "Tendon xanthomas also occur in two rare conditions, cerebrotendinous xanthomatosis and sitosterolemia, which are not easily confused with FH, can be easily differentiated with clinical history and biochemical tests. " 09/01/2001 - "However, despite these significant achievements in animal experimentation, there are no suitable animal models for several rare types of fatal dyslipidemia-associated disorders such as phytosterolemia and cerebrotendinous xanthomatosis. " 06/01/2014 - "Tendinous and tuberous xanthomas are typical for autosomal dominant hypercholesterolemia, as well as for some rare conditions, such as cerebrotendinous xanthomatosis and familial β-sitosterolemia. "
3.	CholesterolIBA 04/01/1991 - "Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis." 05/01/2014 - "This review summarizes cholesterol metabolism related to bile acid synthesis, physiopathology, biochemistry and treatment of cerebrotendinous xanthomatosis. " 12/01/2012 - "Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of cholesterol metabolism. " 09/01/2010 - "In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (Niemann Pick Syndrome) lead to neurological disease. " 03/01/2005 - "Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis."
4.	Cholestanol (Coprostanol)IBA 01/01/1988 - "Increased serum cholestanol in patients with cerebrotendinous xanthomatosis (CTX): chromatographic study." 12/01/1985 - "Studies of the mechanism of the increased biosynthesis of cholestanol in cerebrotendinous xanthomatosis. " 05/25/2014 - "Blood testing for cerebrotendinous xanthomatosis is routinely performed using gas chromatography-mass spectrometry measurement of elevated cholestanol level, and the diagnosis is confirmed by molecular genetic analysis. " 12/01/2011 - "Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. " 09/01/2011 - "[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]."
5.	Chenodeoxycholic Acid (Chenix)FDA Link 01/01/2009 - "In this long-term study, prompt preclinical administration of chenodeoxycholic acid in early childhood completely prevented the cerebrotendinous xanthomatosis phenotype in 2 sisters. " 01/01/1984 - "[Two cases of familial cerebrotendinous xanthomatosis--intrahepatic enzyme assay and therapeutic trial with chenodeoxycholic acid]." 09/01/2013 - "Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis." 05/01/2013 - "To present the long-term neurological outcome of Jewish Israeli patients with cerebrotendinous xanthomatosis (CTX) after several years of chenodeoxycholic acid (CDCA) treatment. " 05/01/2013 - "Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis."
6.	CholestanolsIBA 02/01/1978 - "Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study." 07/01/1975 - "This paper describes studies dealing with the nature of the C27 pentahydroxy bile alcohols present in the bile and feces of two patients with cerebrotendinous xanthomatosis (CTX). " 04/01/2005 - "Glucuronidated bile alcohols, which are known to be excreted by patients with cerebrotendinous xanthomatosis (CTX) were detected in the urine. " 05/01/1996 - "Cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile alcohols in the patient's urine. " 11/01/1987 - "The same assay was used as before in demonstrating deficiency of this enzyme activity in cerebrotendinous xanthomatosis (CTX), a disease in which high excretion of bile alcohols is typical. "
7.	Cytochrome P-450 CYP27A1 (Cholestanetriol 26 Monooxygenase)IBA 01/01/2014 - "Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. " 03/01/2013 - "Accumulation of 7α-hydroxy-4-cholesten-3-one in patients with lack of sterol 27-hydroxylase (Cerebrotendinous xanthomatosis was shown to be an important pathogenetic factor. " 01/01/2012 - "Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. " 01/01/2012 - "Further genetic analysis revealed homozygozity for mutations in the sterol 27-hydroxylase gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). " 01/01/2011 - "We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). "
8.	Bile Acids and Salts (Bile Acids)IBA 03/01/2014 - "Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report." 10/01/1990 - "Identification of short side chain bile acids in urine of patients with cerebrotendinous xanthomatosis." 11/01/1986 - "In two patients with cerebrotendinous xanthomatosis, C22 and C23 bile acids were the major constituents of the biliary unconjugated bile acids, and comprised about 0.8% of total bile acids; no detectable amounts of C27 bile acids were found in their bile. " 10/01/1986 - "Increased (23R)-hydroxylase activity in patients suffering from cerebrotendinous xanthomatosis, resulting in (23R)-hydroxylation of bile acids." 08/01/1985 - "Biosynthesis of bile acids in cerebrotendinous xanthomatosis. "
9.	Cholic AcidIBA 05/01/1997 - "These studies will help in further investigation of the defect of cholic acid biosynthesis in patients with cerebrotendinous xanthomatosis (CTX) as well as other inborn errors of bile acid metabolism." 12/01/2008 - "Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy." 06/01/1980 - "Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid." 01/01/1979 - "Cholic acid biosynthesis is defective in individuals with cerebrotendinous xanthomatosis (CTX) and is associated with the excretion of 5beta-cholestane-3alpha,7alpha, 12alpha,25-tetrol, an intermediate in the 25-hydroxylation pathway of cholic acid in CTX. " 01/01/1979 - "Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis."
10.	GlucuronidesIBA 10/01/1995 - "The determination of the glucurono-conjugated position in three bile alcohol glucuronides secreted in bile of a patient with cerebrotendinous xanthomatosis was carried out by a nuclear magnetic resonance study. " 04/01/1994 - "This paper describes the determination of the glucurono-conjugated position in two bile alcohol glucuronides excreted in urine of a patient with cerebrotendinous xanthomatosis by a nuclear magnetic resonance study. " 04/01/1994 - "Determination of the glucurono-conjugated position in bile alcohol glucuronides excreted in urine of a patient with cerebrotendinous xanthomatosis by a nuclear magnetic resonance study." 10/01/1995 - "Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis." 05/01/1994 - "I. High-performance liquid chromatographic analysis of bile alcohol glucuronides in cerebrotendinous xanthomatosis."

Therapies and Procedures

1.	Aftercare (After-Treatment) 10/01/1992 - "Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study." 06/01/1985 - "Biliary and urinary bile alcohol and bile acid composition has been determined by high performance liquid chromatography in patients with cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid. " 01/01/1988 - "One consists of the detection of cerebrotendinous xanthomatosis carriers by subjecting them to oral cholestyramine administration and monitoring the urinary excretion of the bile alcohol 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol before and after treatment. "
2.	Drug Therapy (Chemotherapy) 01/01/1996 - "Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy."
3.	Blood Component Removal (Apheresis) 02/01/1994 - "LDL-apheresis cannot be recommended for treatment of cerebrotendinous xanthomatosis." 02/01/1993 - "We studied the effects of LDL-apheresis on the biochemical and clinical abnormalities of 5 patients with cerebrotendinous xanthomatosis (CTX). " 02/01/1989 - "From our new experiments-we believe that the LDL-apheresis offers the strong hope of preventing the progress on cerebrotendinous xanthomatosis." 02/01/1989 - "[Effect of LDL-apheresis on a case of Cerebrotendinous Xanthomatosis]." 02/01/1993 - "Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis."
4.	Oral Administration 06/30/1983 - "By means of capillary gas chromatography urine samples of patients with cerebrotendinous xanthomatosis (CTX) were investigated before and during treatment by oral administration of chenodeoxycholic acid. " 12/14/1990 - "Reduction of urinary bile alcohol excretion and serum cholestanol in patients with cerebrotendinous xanthomatosis after oral administration of deoxycholic acid." 02/14/1987 - "Abnormal urinary bile acids in a patient suffering from cerebrotendinous xanthomatosis during oral administration of ursodeoxycholic acid." 07/25/1982 - "Four bile samples collected from two patients with cerebrotendinous xanthomatosis contained considerably higher amounts of this steroid, 0.47-1.32 micrograms/ml. After oral administration of [4-14C]7 alpha-hydroxy-4-cholesten-3-one to rabbits, 14C-labeled cholestanol could be isolated from the intestinal wall, liver, and blood after 24 h. " 08/01/1994 - "Treatments by oral administration of chenodeoxycholic acid (CDCA) alone, 3-hydroxy-3-methylglutaryl (HMG) CoA reductase inhibitor (pravastatin) alone, and combination of the two drugs were attempted for 7 patients with cerebrotendinous xanthomatosis (CTX). "
5.	Liver Transplantation 03/13/1984 - "The ratio was determined in several groups of patients: (a) patients with cerebrotendinous xanthomatosis (in serum, cerebrospinal fluid and tendon biopsy), before and during chenodeoxycholic acid therapy, (b) patients receiving cholestyramine therapy (in serum), (c) patients suffering from various liver diseases (in serum) and (d) one patient before and after liver transplantation (in serum). "