Cerebrotendinous Xanthomatosis

An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. 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: 456 relevant articles (1 outcomes, 26 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Atherosclerosis
2.	Sitosterolemia
3.	Rare Diseases (Rare Disease)
4.	Diabetes Mellitus
5.	Neurodegenerative Diseases (Neurodegenerative Disease)

Experts

1.	DeBarber, Andrea E: 13 articles (01/2021 - 01/2010)
2.	Björkhem, Ingemar: 12 articles (01/2020 - 07/2002)
3.	Duell, P Barton: 8 articles (07/2021 - 05/2011)
4.	Steiner, Robert D: 8 articles (07/2021 - 01/2010)
5.	Griffiths, William J: 8 articles (04/2021 - 06/2013)
6.	Wang, Yuqin: 8 articles (04/2021 - 06/2013)
7.	Dotti, Maria Teresa: 8 articles (04/2020 - 09/2003)
8.	Federico, Antonio: 8 articles (04/2020 - 09/2003)
9.	Mignarri, Andrea: 8 articles (04/2020 - 03/2013)
10.	Verrips, Aad: 7 articles (11/2020 - 12/2005)

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." 04/01/2010 - "Cerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. " 04/01/1991 - "The sterol composition of sera from patients with cerebrotendinous xanthomatosis (CTX) was investigated by gas chromatographic analysis of saponified extracts, using a polar (CP Wax 52CB) and an apolar (CP Sil 5CB) capillary column. " 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. " 01/01/1982 - "Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control."
2.	Bile Acids and Salts (Bile Acids)IBA 01/01/1988 - "This study gives a review of the results obtained from biochemical investigations of 20 patients in The Netherlands suffering from cerebrotendinous xanthomatosis, an inborn error of metabolism in bile acid synthesis. " 09/01/2023 - "Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder of bile acid synthesis that presents with varied and progressive symptomology. " 01/01/2023 - "Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. " 01/01/2022 - "Cerebrotendinous xanthomatosis (CTX) is a disorder of bile acid (BA) metabolism due to biallelic mutations in CYP27A1. " 09/10/2021 - "Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis."
3.	Chenodeoxycholic Acid (Chenix)FDA Link 10/01/2022 - "The aim of this study was to use tractography and diffusion kurtosis imaging (DKI) to evaluate cerebral white matter (WM) changes in patients with cerebrotendinous xanthomatosis (CTX) after stopping chenodeoxycholic acid (CDCA) treatment. " 01/01/2019 - "The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis. " 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. " 01/01/2023 - "Introduction: In 2017 the drug chenodeoxycholic acid (CDCA) became unavailable to Dutch patients with the rare inborn error of metabolism cerebrotendinous xanthomatosis (CTX). " 01/01/2023 - "Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients."
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 - "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. " 05/01/1994 - "The assay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide, the major bile alcohol component in serum from cerebrotendinous xanthomatosis patients, with the present method was useful for the diagnosis of cerebrotendinous xanthomatosis."
5.	CholesterolIBA 01/01/2016 - "Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis." 10/01/2014 - "Cerebrotendinous xanthomatosis is a very rare disorder of cholesterol metabolism with autosomal recessive inheritance. " 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."
6.	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. " 05/01/2019 - "Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. " 01/01/2019 - "The patient was diagnosed with cerebrotendinous xanthomatosis (CTX) based on an elevated serum cholestanol level and a homozygous missense mutation in CYP27A1. " 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. "
7.	Cholestanetriol 26-Monooxygenase (Cholestanetriol 26 Monooxygenase)IBA 09/17/2023 - "Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the sterol 27-hydroxylase gene (CYP27A1). " 06/22/2023 - "Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. " 09/10/2021 - "Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding the sterol 27-hydroxylase. " 10/01/2020 - "Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. " 01/01/2019 - "In 2017, CDCA has been approved as an orphan indication for the treatment of patients with cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder caused by mutations of sterol 27-hydroxylase (CYP27A1) gene. "
8.	LipidsIBA 08/01/1996 - "The objective of this study was to describe diarrhoea as a dominating symptom of cerebrotendinous xanthomatosis (CTX), a lipid storage disease, and investigate its cause. " 06/22/2023 - "Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review." 01/01/2023 - "Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. " 12/01/2022 - "Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by 27-hydroxylase deficiency. " 01/01/2022 - "Background: Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disease, caused by deficiency of sterol-27-hydroxylase. "
9.	Cholic AcidIBA 08/01/2019 - "Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults." 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." 12/01/2008 - "Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy."
10.	GlucuronidesIBA 01/01/2020 - "A LC-Mass Spectrometry of the urines showed the presence of cholestanepentols glucuronide, which led to the suspicion of cerebrotendinous xanthomatosis. " 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." 01/01/2017 - "A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios."

Therapies and Procedures

1.	Therapeutics 09/01/2019 - "Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey." 04/01/2016 - "Cerebrotendinous xanthomatosis is a progressive and preventable disorder and it benefits from therapy, so early diagnosis is mandatory to prevent significant morbidity and mortality associated with this disease." 10/01/2014 - "The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated. " 11/01/2011 - "Treatment effectiveness in cerebrotendinous xanthomatosis is variable, notably better in patients who had started therapy before the injury to the nervous system took place. " 09/01/2011 - "Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report."
2.	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." 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. " 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. "
3.	Drug Therapy (Chemotherapy) 01/01/1996 - "Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy."
4.	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."
5.	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. " 02/14/1987 - "Abnormal urinary bile acids in a patient suffering from cerebrotendinous xanthomatosis during oral administration of ursodeoxycholic acid." 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). " 12/14/1990 - "Reduction of urinary bile alcohol excretion and serum cholestanol in patients with cerebrotendinous xanthomatosis after oral administration of deoxycholic 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. "