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

A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.
 

Author(s): Andrea E DeBarber, Jenny Luo, Michal Star-Weinstock, Subhasish Purkayastha, Michael T Geraghty, John Pei-Wen Chiang, Louise S Merkens, Anuradha S Pappu, Robert D Steiner

Journal: J. Lipid Res.. 2014 Jan;55(1):146-54.

 

Cerebrotendinous xanthomatosis (CTX) is a rare, difficult-to-diagnose genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial because an effective oral therapy for CTX ...

Last Updated: 11 Dec 2013

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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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'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation.
 

Author(s): Rajendra Singh Jain, Raghavendra Bakki Sannegowda, Amit Agrawal, Deepika Hemrajani, Rahul Jain, Tarun Mathur

Journal:

 

We report a 25-year-old young man presenting with cognitive decline, pancerebellar features, spastic quadriparesis, bilateral cataract (operated) and tendo-Achilles swelling (xanthoma). The CT of the head showed bilateral cerebellar hypodensities. There were bilateral cerebellar hypointensities ...

Last Updated: 18 Feb 2013

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

[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].
 

Author(s): Viktória Evelin Varga, Mónika Katkó, János Harangi, István Balogh, István Kapás, László Madar, Ildikó Seres, Mária Judit Molnár, György Paragh, G Gábor Kovács, Mariann Harangi

Journal: Orv Hetil. 2014 May;155(21):811-6.

 

Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved in bile acid synthesis. The ...

Last Updated: 19 May 2014

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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: 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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