Cerebrotendinous Xanthomatosis

Common Name(s)

Cerebrotendinous Xanthomatosis, Cholestanol storage disease

Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebrotendinous Xanthomatosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebrotendinous Xanthomatosis" returned 110 free, full-text research articles on human participants. First 3 results:

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.
 

Author(s): Philip Höflinger, Stefan Hauser, Yvonne Theurer, Stefanie Weißenberger, Carlo Wilke, Ludger Schöls

Journal: Stem Cell Res. 2016 Sep;17(2):433-436.

 

Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1. Episomal plasmids encoding the pluripotency genes OCT4, SOX2, KLF4, L-MYC ...

Last Updated: 31 Dec 1969

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Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
 

Author(s): Shilpa D Kulkarni, Meenal Garg, Rafat Sayed

Journal: Indian Pediatr. 2016 Oct;53(10):917-919.

 

Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.

Last Updated: 31 Dec 1969

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Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.
 

Author(s): Syed Mohd Razi, Abhinav Kumar Gupta, Deepak Chand Gupta, Manish Gutch, Keshav Kumar Gupta, Syeda Iqra Usman

Journal:

 

Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cerebrotendinous Xanthomatosis" returned 4 free, full-text review articles on human participants. First 3 results:

[Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].
 

Author(s): Yudith Preiss, José L Santos, Susan V Smalley, Alberto Maiz

Journal: Rev Med Chil. 2014 May;142(5):616-22.

 

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in ...

Last Updated: 31 Dec 1969

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Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
 

Author(s): Shuke Nie, Guiqin Chen, Xuebing Cao, Yunjian Zhang

Journal:

 

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. The CYP27A1 gene is located on ...

Last Updated: 31 Dec 1969

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Psychiatric manifestations in cerebrotendinous xanthomatosis.
 

Author(s): M J Fraidakis

Journal:

 

Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
 

Status: Recruiting

Condition Summary: Cerebrotendinous Xanthomatosis (CTX)

 

Last Updated: 31 Oct 2017

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