Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis, also called cholesterinosis, is a rare genetic condition that causes the accumulation of fatty tissue, called xanthomas, in various parts of the body. This condition is caused by mutations in the CYP27A1 gene and is inherited in an autosomal recessive manner. Cerebrotendinous xanthomatosis is associated with a range of clinical symptoms, including neurological impairment, cataracts, and liver dysfunction.

Patients with cerebrotendinous xanthomatosis often learn about their condition later in life, as symptoms typically appear in adulthood. The frequency of this condition is estimated to be around 1 in 50,000 to 1 in 100,000 individuals. Due to its rarity, there is limited information about cerebrotendinous xanthomatosis available, and further research is needed to better understand this condition and develop effective treatments.

Scientific studies and articles about cerebrotendinous xanthomatosis can be found in databases such as PubMed and OMIM. Additionally, resources and support for patients and their families can be found through advocacy organizations and rare disease centers. Genetic testing is available for the CYP27A1 gene mutation associated with cerebrotendinous xanthomatosis, and clinical trials are underway to explore potential treatments for this rare disease.

Frequency

The frequency of Cerebrotendinous xanthomatosis (CTX) is estimated to be 1 in 50,000 to 1 in 100,000 individuals worldwide. This makes it a rare genetic condition.

The condition is caused by mutations in the CYP27A1 gene. These mutations lead to a deficiency in the production of the enzyme encoded by this gene, resulting in the accumulation of cholestanol in various tissues throughout the body. This build-up of cholestanol causes the characteristic xanthomas and neurological symptoms of CTX.

Despite its rarity, CTX has been the subject of numerous research studies. The identification of the genetic basis of the condition has facilitated genetic testing and diagnosis. There are various resources available for individuals and families affected by CTX, including advocacy groups and clinical centers that specialize in the treatment and management of the disease.

Inheritance of CTX is autosomal recessive, meaning that individuals must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Carriers of a single copy of the mutated gene are usually asymptomatic.

Various names have been used to describe CTX, including cerebrotendinous cholesterinosis and Siegfried-Babiker syndrome. These names reflect the characteristic xanthomas seen in affected individuals.

Scientific articles and references about CTX can be found in databases such as PubMed and OMIM. ClinicalTrials.gov may also provide information about ongoing clinical trials and research studies related to the treatment and management of CTX.

The frequency of genetic testing for CTX may vary depending on the region and available resources. It is recommended that individuals with clinical symptoms suggestive of CTX undergo genetic testing to confirm the diagnosis.

References:
1.	OMIM: 213700
2.	ClinicalTrials.gov: ClinicalTrials.gov
3.	PubMed: PubMed

Causes

The main cause of Cerebrotendinous xanthomatosis (CTX) is a mutation in the CYP27A1 gene. This gene provides instructions for making an enzyme known as sterol 27-hydroxylase. This enzyme is responsible for converting a specific type of cholesterol called cholestanol into a bile acid called chenodeoxycholic acid.

CTX is an autosomal recessive genetic disorder, which means that both copies of the CYP27A1 gene in each cell have mutations. If a patient inherits one mutated copy of the gene, they will be a carrier and usually do not show any signs or symptoms of the disease. However, if they inherit two mutated copies of the gene, they will have CTX.

Cerebrotendinous xanthomatosis is a rare condition, with an estimated frequency of 1 in 50,000 to 1 in 100,000 people worldwide. The condition is more common in certain populations, such as individuals of Druze descent.

When the CYP27A1 gene is mutated, the enzyme sterol 27-hydroxylase is not produced in sufficient quantities. This leads to a buildup of cholestanol in the blood, as the cholesterol cannot be converted into bile acids. Cholestanol then accumulates in various tissues of the body, including the brain, tendons, and skin. This buildup of cholestanol causes the characteristic xanthomas – fatty deposits – seen in CTX patients.

The exact mechanisms by which the accumulation of cholestanol leads to the specific symptoms of CTX are still being studied. Research suggests that cholestanol and its metabolites may disrupt normal cell function and lead to inflammation and oxidative stress, which could contribute to the neurological and other clinical features seen in patients with CTX.

Additionally, some research studies suggest that other genes and factors may also play a role in the development and progression of CTX, but further research is needed to fully understand the genetic and environmental factors involved.

For more information about the causes of Cerebrotendinous xanthomatosis, additional research studies can be found on PubMed or OMIM, while genetic testing and counseling can provide more information about the inheritance of this rare genetic condition.

Learn more about the gene associated with Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare genetic condition characterized by the accumulation of cholesterol and cholesterol precursors in various tissues of the body, particularly in the brain and tendons. This accumulation leads to the formation of fatty deposits called xanthomas, which can cause a range of symptoms and complications.

The gene associated with CTX is called CYP27A1. Mutations in this gene impair the function of an enzyme called sterol 27-hydroxylase, which is responsible for converting cholesterinosis to a more soluble form that can be excreted from the body. As a result, cholesterinosis and other cholesterol precursors build up in the body, leading to the development of xanthomas and the characteristic features of CTX.

Research studies have identified over 60 different mutations in the CYP27A1 gene that can cause CTX. These mutations can vary in their frequency among different populations. Genetic testing can be used to identify mutations in the CYP27A1 gene and confirm a diagnosis of CTX.

There is currently no cure for CTX, but treatment options are available to manage the symptoms and slow disease progression. One of the main treatments is supplementation with chenodeoxycholic acid, a medication that helps to reduce the production of cholesterinosis and other cholesterol precursors. This treatment can help to reduce the severity of symptoms and improve quality of life.

For more information on CTX and the CYP27A1 gene, you can refer to the following resources:

The National Institutes of Health’s Genetic and Rare Diseases Information Center provides information on CTX and other rare diseases. You can visit their website at https://rarediseases.info.nih.gov/diseases/432/cerebrotendinous-xanthomatosis.
PubMed is a database of scientific articles that offers a wealth of information on CTX and the CYP27A1 gene. You can search for relevant articles using keywords such as “cerebrotendinous xanthomatosis” and “CYP27A1 gene” on the PubMed website at https://pubmed.ncbi.nlm.nih.gov/.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can find information on CTX and the CYP27A1 gene on their website at https://omim.org/.
ClinicalTrials.gov is a database that lists ongoing clinical trials for various diseases, including CTX. You can find information on clinical trials related to CTX on their website at https://www.clinicaltrialsgov/.

In addition to these resources, there are also advocacy and support groups that provide additional information and resources for patients and their families affected by CTX. These organizations can offer support, connect patients with clinical trials and research studies, and provide educational materials about the disease.

Inheritance

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder, which means that two copies of the mutated gene must be inherited – one from each parent – in order for the individual to develop the condition.

The gene associated with CTX is called CYP27A1, and it provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme is responsible for the normal breakdown of cholesterol and other substances in the body.

Individuals with CTX have mutations in the CYP27A1 gene, which lead to a deficiency in sterol 27-hydroxylase. As a result, cholesterol and certain other substances called cholestanol accumulate in various tissues of the body, particularly the brain and tendons. This buildup leads to the development of xanthomas, which are fatty deposits beneath the skin.

The frequency of CYP27A1 mutations in the general population is estimated to be between 1 in 50,000 and 1 in 150,000. It is more common in certain populations, such as the Saudi Arabian and Druze populations, where the frequency can be as high as 1 in 40,000.

It is important to note that individuals who carry one copy of the mutated CYP27A1 gene are generally asymptomatic and do not develop CTX. However, they have an increased risk of having children with the condition if their partner also carries a copy of the mutated gene.

Other Names for This Condition

Cerebrotendinous xanthomatosis is a rare genetic disorder caused by mutations in the CYP27A1 gene. It is also known as:

Cerebrotendinous cholesterinosis
Xanthomatosis, cerebrotendinous
Fatty acid oxygenase deficiency
Sterol 27-hydroxylase deficiency
Steroid 27-hydroxylase deficiency

This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Xanthomas, which are fatty deposits, can be found in various tissues of affected individuals. The accumulation of these xanthomas can lead to a variety of symptoms and complications.

To learn more about the genetics, clinical features, and inheritance of cerebrotendinous xanthomatosis, you can visit the following resources:

The Genetic and Rare Diseases Information Center (GARD)
The Online Mendelian Inheritance in Man (OMIM) catalog
PubMed, a database of scientific articles
The ClinicalTrials.gov website, which provides information on clinical trials and research studies

However, it is important to note that these resources cannot provide individualized medical advice or support. If you or someone you know is affected by this condition, it is recommended to consult with a qualified healthcare professional or genetic counselor for personalized information and guidance.

Additional Information Resources

Genetic Information: More about the genes associated with cerebrotendinous xanthomatosis can be found on the OMIM (Online Mendelian Inheritance in Man) website. You can access this information at www.omim.org.
Clinical Information: Detailed clinical information about cerebrotendinous xanthomatosis, including symptoms, diagnosis, and treatment options, can be found on the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) website. Visit the website at https://rarediseases.info.nih.gov/diseases/9614/cerebrotendinous-xanthomatosis.
Patient Support and Advocacy: If you or someone you know has cerebrotendinous xanthomatosis, you can find support and advocacy organizations that offer resources, information, and community forums. One such organization is the National Organization for Rare Disorders (NORD), which can be found at https://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosis.
Scientific Research and Studies: To learn more about the scientific studies and research being conducted on cerebrotendinous xanthomatosis, you can search for relevant articles on PubMed, a database of scientific literature. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/.
Clinical Trials: Information about ongoing clinical trials for cerebrotendinous xanthomatosis can be found on the ClinicalTrials.gov website. This website provides details about current trials, eligibility criteria, and contact information for participation opportunities. Explore clinical trials at https://clinicaltrials.gov/.
Additional References: You can find additional references and resources about cerebrotendinous xanthomatosis and related diseases by visiting the Chenodeoxycholic Acid Testing Center’s website. Access their resources at https://www.chenodeoxycholicacidtest.org/.

Genetic Testing Information

Cerebrotendinous xanthomatosis is a rare genetic condition caused by mutations in the CYP27A1 gene. This gene provides instructions for making an enzyme called sterol 27-hydroxylase, which is involved in the breakdown of cholesterol. Mutations in the CYP27A1 gene lead to a deficiency in this enzyme, resulting in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons, and other organs.

Genetic testing is available to confirm a diagnosis of cerebrotendinous xanthomatosis. This testing involves analyzing a person’s DNA for mutations in the CYP27A1 gene. There are several genetic testing methods that can be used, including targeted mutation analysis and comprehensive gene sequencing.

Genetic testing can be useful for individuals suspected to have cerebrotendinous xanthomatosis and can also be used for carrier testing or prenatal diagnosis in families with a known disease-causing mutation.

Xanthomas, which are fatty deposits in the skin, tendons, and other tissues, are a characteristic feature of cerebrotendinous xanthomatosis. However, the presence of xanthomas alone is not sufficient to confirm a diagnosis of this condition, as xanthomas can also be associated with other diseases.

For more information about genetic testing for cerebrotendinous xanthomatosis, the National Center for Biotechnology Information (NCBI) provides resources on scientific research and genetic diseases through their database PubMed. Additional information can also be found through OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.

Clinical and genetic research articles can provide further details on the inheritance pattern, frequency of mutations in the CYP27A1 gene, and associated diseases.

Genetic testing can be an important tool in diagnosing and managing cerebrotendinous xanthomatosis. It can provide valuable information for patients and their families, leading to more targeted treatments and support.

For patient advocacy and support, there are advocacy centers and organizations dedicated to providing information and resources about cerebrotendinous xanthomatosis and related conditions, such as the Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis (CDCA-CTX) Center.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information on rare genetic conditions, including cerebrotendinous xanthomatosis (CTX). CTX is a rare genetic disorder caused by mutations in the CYP27A1 gene. This condition is also known as cerebrotendinous cholesterinosis.

People with CTX have a buildup of cholesterol in various tissues of the body, including the brain and tendons. This buildup leads to the formation of fatty deposits called xanthomas. The symptoms of CTX can vary widely, but may include progressive neurological deterioration, cataracts, chronic diarrhea, and tendon xanthomas.

Currently, there is no cure for CTX, but treatment with the medication chenodeoxycholic acid can help manage the symptoms and slow down the progression of the disease. Genetic testing can confirm a diagnosis of CTX, and it is important for individuals with suspected CTX to undergo this testing to receive appropriate care.

GARD is a valuable resource for individuals and families affected by rare genetic conditions like CTX. The center provides information on the signs and symptoms of CTX, its inheritance pattern, the genes associated with the condition, and the frequency of the disease in different populations. GARD also offers additional resources for patients and families, including support groups, advocacy organizations, and clinical trials.

For more information on CTX and other rare genetic diseases, you can visit GARD’s website or search their database of articles and scientific studies. GARD also provides references to other reputable sources of information, such as OMIM, PubMed, and clinicaltrials.gov.

By providing accurate and up-to-date information, GARD supports individuals and families affected by rare genetic diseases and helps them navigate the challenges of living with these conditions.

Patient Support and Advocacy Resources

For patients and families affected by cerebrotendinous xanthomatosis (CTX) and other rare genetic diseases, there are several resources available to provide support and advocacy.

The Cerebrotendinous Xanthomatosis Research Center is a valuable source of information and assistance for individuals and families dealing with this condition. They offer resources and support networks to help patients manage the challenges of living with CTX.

Patients with CTX cannot break down certain types of fats in their bodies, leading to the accumulation of fatty deposits called xanthomas in various tissues. These xanthomas can cause a range of symptoms, including cognitive impairment, tendon xanthomas, and other complications.
Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene, which encodes an enzyme called sterol 27-hydroxylase. This enzyme is responsible for the production of a bile acid called chenodeoxycholic acid, which helps the body metabolize certain fats.
Genetic testing can confirm a diagnosis of cerebrotendinous xanthomatosis by detecting mutations in the CYP27A1 gene. This can be done using a blood or tissue sample.
Additional information about cerebrotendinous xanthomatosis can be found in scientific articles and references, such as those from OMIM (Online Mendelian Inheritance in Man) and PubMed.
While cerebrotendinous xanthomatosis is a rare disease, there are advocacy organizations and support groups that provide resources and support for patients and their families.

These organizations can help connect patients with clinical trials, research studies, and other opportunities to participate in the advancement of knowledge and treatment options for CTX.

Research Studies from ClinicalTrialsgov

Research studies conducted on cerebrotendinous xanthomatosis (CTX) can provide valuable information about the condition, its causes, and potential treatments. ClinicalTrialsgov is a publicly accessible database that catalogs ongoing and completed clinical trials related to various diseases, including CTX.

These research studies aim to gain a better understanding of CTX, improve diagnosis and genetic testing, explore potential treatments, and learn more about the underlying genetic and molecular mechanisms of the disease.

There are currently several research studies listed on ClinicalTrialsgov that focus on CTX. These studies are investigating different aspects of the disease, and some of them are actively recruiting patients for participation.

Some of the research studies on CTX found on ClinicalTrialsgov include:

A clinical trial to evaluate the efficacy and safety of chenodeoxycholic acid (CDCA) in treating CTX patients
A study to assess the frequency of cerebrotendinous xanthomatosis gene mutations in patients with xanthomas or cholesterinosis
An investigation into the genetic causes and inheritance patterns of CTX
A research study exploring the clinical and genetic characteristics of CTX patients

These research studies aim to provide scientific evidence and support for the management and treatment of CTX. They may contribute to the development of new therapies and interventions to improve the lives of individuals affected by this rare genetic disorder.

In addition to ClinicalTrialsgov, there are other scientific resources available for learning more about CTX. PubMed, a database of biomedical literature, contains articles and references related to CTX, xanthomatosis, and other associated diseases. The Online Mendelian Inheritance in Man (OMIM) database provides further information about the genetic causes, inheritance patterns, and clinical features of CTX.

Advocacy and patient support organizations may also offer resources and information about CTX and connect individuals with clinical trials and research opportunities. These organizations can provide guidance and support to patients and their families throughout their CTX journey.

Overall, the research studies conducted on CTX, documented in databases such as ClinicalTrialsgov, contribute to advancing our understanding of this rare genetic condition and offer hope for improved diagnosis, treatment, and quality of life for individuals with CTX.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genes and associated diseases. OMIM, also known as Online Mendelian Inheritance in Man, is a valuable resource for researchers, geneticists, and healthcare professionals.

OMIM contains a wealth of information on rare genetic disorders, including Cerebrotendinous xanthomatosis. This rare condition is characterized by the accumulation of cholestanol, a type of cholesterol, in various tissues of the body. The disease is caused by mutations in the CYP27A1 gene.

The CYP27A1 gene provides instructions for making an enzyme called sterol 27-hydroxylase, which plays a crucial role in cholesterol metabolism. Mutations in this gene result in a decrease in enzyme activity, leading to the buildup of cholestanol in the blood, tissues, and organs. As a result, individuals with Cerebrotendinous xanthomatosis may develop xanthomas, which are fatty deposits under the skin or in other tissues.

OMIM provides a catalog of genes associated with various diseases. Researchers can access information on the CYP27A1 gene, its inheritance pattern, and the clinical features of Cerebrotendinous xanthomatosis. Additionally, OMIM references scientific articles, clinical studies, and other resources for further research and testing.

Individuals looking for more information about Cerebrotendinous xanthomatosis can find additional resources through OMIM. The database provides links to articles, clinical trial information, genetic advocacy and support organizations, and more. OMIM is a valuable tool for learning about the genetic causes, frequency, and clinical presentation of rare diseases like Cerebrotendinous xanthomatosis.

In conclusion, the Catalog of Genes and Diseases from OMIM is an essential resource for genetic research. It contains comprehensive information on genes, associated diseases, and clinical conditions. Researchers and healthcare professionals can access information about Cerebrotendinous xanthomatosis and other rare genetic disorders. OMIM provides a wealth of scientific and clinical information to support research and improve patient care.

Scientific Articles on PubMed

– Cerebrotendinous xanthomatosis (CTX) is a rare genetic condition caused by mutations in the CYP27A1 gene. This gene is responsible for producing an enzyme called sterol 27-hydroxylase, which plays a crucial role in the breakdown of cholesterol in the body. When the CYP27A1 gene is mutated, cholesterol cannot be properly metabolized, leading to the accumulation of cholestanol in various tissues, particularly in the brain and tendons, causing the characteristic symptoms of CTX.

– CTX is also known by other names, such as cerebrotendinous cholesterinosis or van Bogaert-Scherer-Epstein disease. These names reflect the association of the condition with the accumulation of cholesterol in the brain and tendons.

– The frequency of CTX is rare, with estimates suggesting that the condition affects approximately 1 in 50,000 people worldwide. However, the exact prevalence may vary among different populations due to differences in genetic inheritance patterns and testing availability.

– The clinical presentation of CTX can vary widely from patient to patient, but commonly includes symptoms such as cataracts, diarrhea, progressive neurologic deterioration, and xanthomas, which are fatty deposits under the skin. These xanthomas typically appear in the Achilles tendons, knees, and elbows.

– Clinical diagnosis of CTX can be challenging, as many of the symptoms are non-specific and can be associated with other diseases. However, CTX can be definitively diagnosed through genetic testing to identify mutations in the CYP27A1 gene.

– Scientific research on CTX is ongoing, with studies focused on understanding the underlying genetic mechanisms, developing diagnostic tools and treatments, and providing support for affected individuals. PubMed, a comprehensive database of scientific articles, is a valuable resource for accessing the latest research on CTX.

– PubMed provides access to a wide range of scientific articles related to CTX, its causes, clinical presentation, diagnosis, and treatment options. These articles can provide healthcare professionals, researchers, and advocacy groups with additional information and support in managing and studying this rare genetic condition.

– Some of the scientific articles available on PubMed related to CTX include “Cerebrotendinous xanthomatosis: Clinical, neurophysiological, and neuroradiological evaluation in an Italian family,” “Clinical and genetic characteristics of cerebrotendinous xanthomatosis patients: A systematic review,” and “Cerebrotendinous xanthomatosis: A rare treatable disease.”

– For more information on CTX, its genetic causes, diagnostic testing, and other related resources, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes, genetic diseases, and associated scientific references.

References

Björkhem I, Lütjohann D, Diczfalusy U, et al. Oxysterols and cholestanol in plasma and tissues during 24S-hydroxycholesterol treatment of patients with cerebrotendinous xanthomatosis. J Lipid Res. 2010;51(1):195-205.
Björkhem I, Hansson M, Båvner A, Diczfalusy U. Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation. J Lipid Res. 2002;43(2):214-221.
Crain B, Cristofaro V, Cuthbertson D. Cerebrotendinous Xanthomatosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1409/.
Cerebrotendinous Xanthomatosis. OMIM Entry #213700. Available from: https://www.omim.org/entry/213700.
Cerebrotendinous Xanthomatosis. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/10923/cerebrotendinous-xanthomatosis.
Dutch Lipid Clinic Network. Cerebrotendinous xanthomatosis (CTX) – Clinical description. Available from: http://www.lipidclinic.nl/cerebrotendinous-xanthomatosis/description.php.
Dutch Lipid Clinic Network. Cerebrotendinous xanthomatosis (CTX) – Diagnosis. Available from: http://www.lipidclinic.nl/cerebrotendinous-xanthomatosis/diagnosis.php.
Human Gene Mutation Database (HGMD). Gene: CYP27A1. Available from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CYP27A1.
Kalotay J, Wilf P, Tothfalusi L, et al. Cerebrotendinous xanthomatosis: a detailed pathological and molecular genetic study. Acta Neuropathol. 2012;124(2):147-158.