Cerebrotendinous Xanthomatosis

Subscribe to Selected New Research on Cerebrotendinous Xanthomatosis

221 relevant articles (1 outcomes, 19 trials/studies) found for this Disease

Description: 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; Bogaert-Scherer-Epstein Disease, Van; Cerebrotendinous Xanthomatoses; Disease, Van Bogaert-Scherer-Epstein; Van Bogaert Scherer Epstein Disease; Xanthomatoses, Cerebrotendinous; Van Bogaert-Scherer-Epstein Disease

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Inborn Genetic Diseases: 549

Inborn Errors Metabolism: 404

Inborn Errors Lipid Metabolism

Cerebrotendinous Xanthomatosis: 221

Nutritional and Metabolic Diseases

Metabolic Diseases: 1268

Inborn Errors Metabolism: 404

Inborn Errors Lipid Metabolism

Cerebrotendinous Xanthomatosis: 221

Lipid Metabolism Disorders: 85

Xanthomatosis: 659

Cerebrotendinous Xanthomatosis: 221

Related Diseases

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

Experts

1.	Federico, A: 2 articles (10/2004 - 09/2001)
2.	Dotti, M T: 2 articles (10/2004 - 09/2001)
3.	Salen, G: 2 articles (03/2002 - 09/2001)
4.	Meaney, Steve: 1 article (05/2007)
5.	Sattler, Wolfgang: 1 article (05/2007)
6.	Panzenboeck, Ute: 1 article (05/2007)
7.	Andersson, Ulla: 1 article (05/2007)
8.	Hansson, Magnus: 1 article (05/2007)
9.	Björkhem, Ingemar: 1 article (05/2007)
10.	Pitt, James J: 1 article (05/2007)

Drugs and Biologics

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

1.	SterolsIBA 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" 05/01/1997 - "It is suggested that this methodology will be helpful in the identification of saturated and unsaturated sterols with different side-chain structures in rare diseases: sitosterolemia, cerebrotendinous xanthomatosis (CTX), as well as atherosclerosis and diabetes mellitus" 12/01/1989 - "In this report we examine the macrophage ACAT reactivity of the shellfish sterol, desmosterol, and other sterols found in man because of shellfish ingestion or in association with the foam cell diseases sitosterolemia and cerebrotendinous xanthomatosis (CTX)" 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." Order ALL the reference details at left...
2.	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." 03/01/2005 - "Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis." 11/01/2002 - "CONCLUSIONS: This crossreactivity may affect the diagnosis and treatment of non-cholesterol dyslipidaemias, including phytosterolaemia and cerebrotendinous xanthomatosis" 01/01/2001 - "Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to an inherited defect in the metabolic pathway of cholesterol" 07/29/1987 - "This method has been used for the biochemical diagnosis of cerebrotendinous xanthomatosis, a hereditary disorder of cholesterol metabolism." Order ALL the reference details at left...
3.	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" 07/01/2008 - "Cerebrotendinous xanthomatosis is a rare hereditary lipid storage disease characterised by deposits of cholestanol" 05/01/2007 - "On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis." 01/01/2007 - "Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition." Order ALL the reference details at left...
4.	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 - "RESULTS: 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" Order ALL the reference details at left...
5.	Cytochrome P-450 CYP27A1 (Cholestanetriol 26 Monooxygenase)IBA 05/01/2007 - "Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase" 12/01/2006 - "Cerebrotendinous xanthomatosis is a rare lipid storage disorder due tocaused by an autosomal recessive inherited defect of the hepatic mitochondrial sterol 27 hydroxylase" 06/01/2006 - "Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to defective activity of the mitochondrial enzyme sterol 27-hydroxylase" 02/01/2006 - "Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by a deficiency of the mitochondrial sterol 27-hydroxylase" 02/01/2004 - "Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene." Order ALL the reference details at left...
6.	Chenodeoxycholic Acid (Chenix)FDA Link 01/01/1984 - "Two cases of familial cerebrotendinous xanthomatosis--intrahepatic enzyme assay and therapeutic trial with chenodeoxycholic acid]" 09/15/2001 - "We report the electrophysiological follow-up of five cerebrotendinous xanthomatosis patients treated for 11 years with chenodeoxycholic acid (CDCA)" 09/15/2001 - "Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients" 09/01/2001 - "Once the suspicion of cerebrotendinous xanthomatosis (CTX) had been confirmed with biochemical and genetic tests and treatment with chenodeoxycholic acid had been started, the diarrhoea disappeared and the neurological symptoms lessened" 03/01/1994 - "A longer period of treatment is required to estimate the overall effects of chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis." Order ALL the reference details at left...
7.	Bile Acids and Salts (Bile Acids)IBA 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" 07/01/1984 - "Cerebrotendinous xanthomatosis and bile acids]" Order ALL the reference details at left...
8.	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." 06/01/1980 - "Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid." 04/01/1980 - "Large amounts of this bile alcohol were needed to further investigate the defect of cholic acid biosynthesis in patients with cerebrotendinous xanthomatosis (CTX)." 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." Order ALL the reference details at left...
9.	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." Order ALL the reference details at left...
10.	Lipoproteins (Lipoprotein)IBA 03/01/1987 - "Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis." 02/01/1993 - "Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis." 08/15/1991 - "In a study of coronary artery disease in patients with cerebrotendinous xanthomatosis (CTX), we documented the presence or absence of atherogenic risk factors and performed detailed analyses of serum lipid and lipoprotein profiles" 05/01/1989 - "Chenodeoxycholic acid normalizes elevated lipoprotein secretion and catabolism in cerebrotendinous xanthomatosis." 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" Order ALL the reference details at left...

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" Order ALL the reference details at left...
2.	Drug Therapy (Chemotherapy) 01/01/1996 - "Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy." Order ALL the reference details at left...
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." Order ALL the reference details at left...
4.	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)" Order ALL the reference details at left...
5.	Transplantation (Transplant Recipients) 01/01/1987 - "We used a commercial enzymatic kit for measuring 7 alpha-hydroxylated bile acids to screen urines from normal subjects, liver-transplant recipients, and patients with various liver diseases, cerebro-hepato-renal syndrome, or cerebrotendinous xanthomatosis (CTX)" Order ALL the reference details at left...

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