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.

 

 

General Support Organizations

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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 97 free, full-text research articles on human participants. First 3 results:

Cerebrotendinous xanthomatosis--the spectrum of imaging findings.
 

Author(s): Arunachalam Pudhiavan, Alka Agrawal, Sangit Chaudhari, Anil Shukla

Journal:

 

Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental ...

Last Updated: 24 May 2013

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Two siblings with cerebrotendinous xanthomatosis.
 

Author(s): D C Kottahachchi, B L P P Balasooriya, L Panangala, U K Ranawaka

Journal: Ceylon Med J. 2012 Sep;57(3):128-9.

 

Last Updated: 22 Oct 2012

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Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.
 

Author(s): María Taboada, Diego Martínez, Belén Pilo, Adriano Jiménez-Escrig, Peter N Robinson, María J Sobrido

Journal:

 

Semantic Web technology can considerably catalyze translational genetics and genomics research in medicine, where the interchange of information between basic research and clinical levels becomes crucial. This exchange involves mapping abstract phenotype descriptions from research ...

Last Updated: 18 Sep 2012

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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 2 free, full-text review articles on human participants. First 3 results:

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: 4 Sep 2013

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Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review.
 

Author(s): Yu Lee, Pao-Yen Lin, Nien-Mu Chiu, Wen-Neng Chang, Jung-Kwang Wen

Journal: Chang Gung Med J. 2002 May;25(5):334-40.

 

Cerebrotendinous xanthomatosis (CTX), a rare familial lipid metabolic disease inherited via an autosomal recessive trait, is caused by mutations of the sterol 27-hydroxylase gene. Psychiatric disorders may occur in patients with CTX. In Taiwan, Chang et al presented patients with ...

Last Updated: 26 Jul 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2005

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Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis
 

Status: Recruiting

Condition Summary: Cerebrotendinous Xanthomatosis (CTX)

 

Last Updated: 6 Jun 2012

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