Contents
[hide]
[show]

Canavan disease is a rare genetic condition that affects the myelin, a substance that protects nerve fibers in the brain. It is caused by mutations in the ASPA gene, which leads to a deficiency of an enzyme called aspartoacylase. Without this enzyme, a substance called N-acetylaspartate accumulates in the brain and causes damage to the myelin.

Clinical symptoms of Canavan disease usually appear in the first few months of life and include developmental delays, weak muscle tone, and an abnormally large head. The disease is more common in the Ashkenazi Jewish population, with a frequency of about 1 in every 6,400 individuals.

There is currently no cure for Canavan disease, but there are resources available to support patients and their families. The National Organization for Rare Disorders (NORD) provides information and advocacy for individuals with rare diseases, including Canavan disease. The Genetic and Rare Diseases Information Center (GARD) also offers additional information and resources on this condition.

Testing for Canavan disease can be done through genetic testing, which can confirm a diagnosis. There are also clinical trials and research studies ongoing to learn more about the disease and develop potential treatments. References to these studies can be found on websites such as PubMed and ClinicalTrials.gov.

For more articles and information on Canavan disease, OMIM (Online Mendelian Inheritance in Man) and GeneReviews are valuable references. They provide detailed information on the genetics, clinical features, and inheritance of Canavan disease, as well as the names of genes associated with the condition.

Frequency

Canavan disease is a rare genetic disorder that affects the population worldwide. It is estimated to occur in approximately 1 in every 6,400 to 13,500 births, making it a relatively rare condition. This frequency may vary across different populations and regions.

The problem isn’t a shortage of people wanting to be doctors, but rather, too few opportunities for training. Medical schools have increased class sizes by 30% since 2002, but federal funding for residency training – an essential step in the process of becoming a practicing physician – has not increased since 1997, according to Inside Higher Ed.

The disease is caused by mutations in the ASPA gene, which is responsible for producing an enzyme called aspartoacylase. These mutations result in the absence or dysfunction of this enzyme, leading to the build-up of a substance called N-acetylaspartate (NAA) in the brain. This accumulation of NAA affects the production and maintenance of myelin, the protective covering of nerve cells.

Genetic studies have identified more than 80 different mutations in the ASPA gene that are associated with Canavan disease. These mutations can have different impacts on the severity and progression of the disease. Some mutations result in a more severe clinical presentation, while others may cause a milder form of the disease.

Research and clinical studies on Canavan disease have provided valuable information about the inheritance pattern and characteristics of the disease. Canavan disease follows an autosomal recessive inheritance pattern, meaning that individuals need to inherit two copies of the abnormal ASPA gene to develop the condition. Individuals who carry only one copy of the mutated gene are referred to as carriers and do not usually show clinical symptoms of the disease.

Tests for Canavan disease can be performed using genetic testing, which can identify mutations in the ASPA gene. These tests can be helpful in confirming a diagnosis and assessing the risk of passing on the condition to future children.

Scientific research articles and resources can provide additional information about Canavan disease. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two commonly used databases for accessing scientific articles and studies on various genetic diseases, including Canavan disease. Advocacy groups and patient support organizations can also provide references and information about Canavan disease, as well as resources for patients and families.

ClinicalTrials.gov is another valuable resource, where ongoing clinical trials related to Canavan disease can be found. These trials aim to enhance our understanding of the disease and develop potential treatments or interventions to improve the quality of life for affected individuals.

Causes

Canavan disease is a rare genetic disorder that falls under a group of diseases called leukodystrophies. Leukodystrophies are clinical conditions characterized by the degeneration of the white matter in the brain.

In Canavan disease, a mutation in the ASPA gene leads to the deficiency of an enzyme called aspartoacylase. This enzyme is responsible for breaking down a substance called N-acetylaspartate (NAA) in the brain. Without the proper functioning of aspartoacylase, NAA accumulates in the brain, causing damage to the myelin sheath that covers and protects nerve cells.

Canavan disease follows an autosomal recessive pattern of inheritance, meaning that both parents must carry a mutation in the ASPA gene for a child to be affected. If both parents are carriers, with each pregnancy, there is a 25% chance of having an affected child, a 50% chance of having a carrier child, and a 25% chance of having an unaffected child.

Genetic testing can be done to confirm a diagnosis of Canavan disease. Testing can identify mutations in the ASPA gene that are associated with the disease. Genetic counseling can provide important information and support for families who have a child with Canavan disease or are at risk of having a child with the condition.

Currently, there is no cure for Canavan disease, and treatment focuses on managing the symptoms and providing supportive care. Researchers continue to study the underlying causes of the disease and explore potential therapies and interventions.

For additional information on the causes and genetics of Canavan disease, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders
  • PubMed: a database of scientific articles on various topics, including Canavan disease
  • Canavan Disease Research Center: a center dedicated to advancing research and understanding of Canavan disease
  • ClinicalTrials.gov: a database of clinical trials investigating potential treatments and interventions for Canavan disease

By learning more about the causes and associated factors of Canavan disease, researchers and healthcare professionals can work towards improving the diagnosis, management, and support for patients and families affected by this rare condition.

Learn more about the gene associated with Canavan disease

Canavan disease is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the ASPA gene, which codes for the enzyme aspartoacylase. Without this enzyme, a compound called N-acetylaspartate (NAA) accumulates in the brain, leading to the destruction of myelin, the protective covering of nerve cells.

See also  15q133 microdeletion

Research has shown that Canavan disease is inherited in an autosomal recessive manner. This means that individuals must inherit two copies of the mutated ASPA gene, one from each parent, in order to develop the condition.

To learn more about Canavan disease and the gene associated with it, you can find additional information from various resources. Here are a few options:

  • Advocacy organizations: There are several advocacy organizations that provide support, information, and resources for individuals and families affected by Canavan disease. They offer a wealth of resources and can help connect you with other families and experts in the field.
  • Genetic testing: Genetic testing can confirm a diagnosis of Canavan disease and identify the specific gene mutations involved. This information can be helpful for understanding the inheritance pattern and providing more accurate genetic counseling.
  • Scientific articles: There are numerous scientific articles covering various aspects of Canavan disease, including its genetic causes, clinical presentation, and management. These articles can provide a deeper understanding of the disease and current research findings.
  • Research studies and clinical trials: Researchers and clinicians are constantly working on advancing our knowledge of Canavan disease and developing potential treatments or interventions. Keeping up with ongoing studies and clinical trials can provide valuable information on the latest research and potential opportunities for participation.
  • Online databases: Online databases such as OMIM and PubMed provide a vast catalog of information on Canavan disease, its genetic underpinnings, and associated studies. These databases are valuable resources for finding scientific literature and references.
  • Clinical centers: Specialized clinical centers, such as the Canavan Disease Center, provide comprehensive care for individuals with Canavan disease. These centers have expertise in diagnosing and managing the condition and can provide valuable guidance and resources.
  • Frequency and population data: Learning about the frequency of Canavan disease in different populations can provide insights into its prevalence and potential risk factors. Additionally, understanding the condition’s occurrence in specific populations can help researchers and clinicians tailor their efforts to address the unique challenges faced by these groups.

By learning more about the gene associated with Canavan disease, you can gain a better understanding of the condition, its causes, and the resources available for support and management. Stay informed and explore the various avenues of information and research to stay updated on the latest advancements in Canavan disease.

Inheritance

Canavan disease is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the disease must be mutated in order for an individual to develop the condition. The gene associated with Canavan disease is called ASPA, which provides instructions for producing an enzyme called aspartoacylase. Mutations in this gene lead to a deficiency or complete absence of the aspartoacylase enzyme.

As a result, individuals with Canavan disease accumulate a substance called N-acetylaspartate (NAA) in the brain. This accumulation affects the normal functioning of myelin, the substance that surrounds and protects nerve cells. Without properly functioning myelin, the communication between nerve cells is disrupted, leading to the signs and symptoms of the disease.

Canavan disease follows an autosomal recessive pattern, meaning that both copies of the ASPA gene must have mutations for an individual to have the condition. If both parents carry a single copy of the mutated gene, they have a 25% chance with each pregnancy of having a child with Canavan disease.

To learn more about the inheritance of Canavan disease and other rare genetic conditions, resources such as the National Center for Advancing Translational Sciences, the Genetic and Rare Diseases Information Center, and scientific articles can provide additional information. ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and other databases are also helpful for finding research studies, clinical trials, and references about this rare disease.

Genetic testing can confirm the diagnosis of Canavan disease and may also be useful for carrier testing in individuals with a family history of the condition. Genetic counseling and support from patient advocacy organizations can provide valuable information and resources for individuals and families affected by Canavan disease.

Other Names for This Condition

Canavan disease is also known by the following names:

  • Canavan-van Bogaert-Bertrand disease
  • Canavan-van Bogaert-Bertrand syndrome
  • American-Levantine-NISP-nuclear-Vandyke(PD)
  • ASP-III
  • Aspartoacylase deficiency
  • Brain spongy degeneration of infancy (BSDI)
  • Spongy degeneration of the central nervous system
  • Spongy degeneration of white matter
  • Van Bogaert-Bertrand type of spongy degeneration of the central nervous system

These names are used to refer to the condition in various scientific studies, clinical trials, and genetic catalogs. They provide additional information and resources for learning about Canavan disease and its associated genes and inheritance patterns.

Further information and support can be found from advocacy organizations, such as Canavan’s Foundation or Canavan Research Illinois, which provide resources for patients and their families. The National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD) also have information about this rare condition.

More information about Canavan disease can be found in scientific articles listed on PubMed, a resource that provides access to a comprehensive database of scientific literature. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases, including Canavan disease.

Population-based genetic testing programs may also cover Canavan disease and other related diseases. ClinicalTrials.gov is a good resource for finding ongoing clinical trials related to Canavan disease and potential treatments or interventions.

In summary, Canavan disease is known by several other names, including Canavan-van Bogaert-Bertrand disease, aspartoacylase deficiency, and spongy degeneration of white matter. Additional resources and information can be found from advocacy organizations, genetic catalogs, research articles, and clinical trial databases.

Additional Information Resources

  • Canavan Disease Research Center: The Canavan Disease Research Center is at the head of scientific studies covering Canavan disease. The center provides information about this rare genetic condition and offers resources for patients and their families. Visit their website to learn more about Canavan disease.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Canavan disease provides detailed information and references for further reading.
  • Genetic Testing Registry: The Genetic Testing Registry offers information on genetic tests for Canavan disease. This resource provides details on the testing methods, laboratories, and associated genes.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials investigating various diseases and conditions. You can search for ongoing or completed clinical trials related to Canavan disease.
  • PubMed: PubMed is a database of scientific articles covering a wide range of topics. You can search for articles on Canavan disease to get more information about the latest research and findings.
  • Support and Advocacy Groups: Several organizations provide support and advocacy for individuals and families affected by Canavan disease. These groups can offer resources, information, and a community of people facing similar challenges.
See also  MAOA gene

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Canavan disease. Canavan disease is a rare genetic condition that affects the myelin, which is the protective covering of nerve fibers in the brain. It is caused by mutations in the ASPA gene, which is responsible for the production of an enzyme called aspartoacylase.

Genetic testing can help identify individuals who are at risk of developing Canavan disease. It can also be used to confirm a diagnosis in individuals with clinical symptoms consistent with the disease. Genetic testing can be done through various methods, including DNA sequencing and deletion/duplication analysis of the ASPA gene.

There are several resources available for individuals and families who are seeking genetic testing information for Canavan disease. These resources provide detailed information about the condition, its genetic inheritance patterns, and the genes associated with it. They also offer support and advocacy for patients and families affected by Canavan disease.

One such resource is the Canavan Disease Research Center (CDRC), which provides information and resources about Canavan disease and other rare genetic diseases. The CDRC offers educational materials, scientific articles, and links to additional resources for individuals seeking genetic testing information.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for genetic testing information. OMIM provides comprehensive information about genetic conditions, including Canavan disease. It includes detailed descriptions of the condition, genes associated with it, and references to scientific studies and clinical trials related to Canavan disease.

In addition to the CDRC and OMIM, individuals interested in genetic testing information can also find resources on websites such as PubMed and Genetic Testing Registry. These websites provide access to scientific articles, clinical trial information, and additional resources for individuals seeking genetic testing information.

In summary, genetic testing plays a crucial role in the diagnosis and management of Canavan disease. It helps identify individuals at risk, confirms diagnosis in patients with clinical symptoms, and provides valuable information for research and treatment. There are several resources available to support individuals seeking genetic testing information for Canavan disease, including the Canavan Disease Research Center and the Online Mendelian Inheritance in Man database.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides comprehensive information about genetic and rare diseases to patients, families, healthcare professionals, and researchers.

GARD covers a wide range of scientific, clinical, and medical topics related to genetic and rare diseases, including Canavan disease. Canavan disease is a rare genetic disorder characterized by the degeneration of the white matter in the brain. It is caused by mutations in the ASPA gene that lead to a deficiency of the enzyme aspartoacylase. Without this enzyme, a substance called N-acetylaspartate (NAA) accumulates in the brain, resulting in damage to the myelin that surrounds nerve cells.

Canavan disease is inherited in an autosomal recessive manner, which means that a person must inherit two nonfunctional ASPA genes – one from each parent – to develop the condition. It is most commonly observed in people of Ashkenazi Jewish descent, but it can also occur in other populations.

There is currently no cure for Canavan disease, but there are supportive treatments available to manage symptoms and improve quality of life. Clinical trials and research studies are ongoing to explore potential interventions and therapies for this condition. Patient advocacy groups, such as the Canavan Foundation, provide support and resources for individuals and families affected by Canavan disease.

For more information about Canavan disease and other genetic and rare diseases, you can visit the GARD website and access a variety of resources, including articles, clinical genetic testing information, research studies, references, and additional links to related websites and organizations. GARD also provides access to databases and catalogs, such as OMIM and PubMed, where you can find scientific articles and publications about Canavan disease and the genes associated with it.

To learn more about Canavan disease and find resources and support, please visit the GARD website at https://rarediseases.info.nih.gov/diseases/7036/canavan-disease.

Patient Support and Advocacy Resources

  • Patients and their families who want to learn more about Canavan disease and other rare genetic conditions can find support, information, and resources from various organizations and websites.
  • Canavan Disease Patient Support Group: This group provides information and support for individuals and families affected by Canavan disease. They offer resources such as educational materials, support forums, and a network of individuals who understand the challenges associated with this condition.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides reliable and up-to-date information on genetic and rare diseases. They have a dedicated page on Canavan disease that covers the causes, symptoms, inheritance, and frequency of the condition.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides a summary of scientific articles, clinical studies, and genetic testing information related to Canavan disease and other associated diseases.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for keywords like “Canavan disease” or “N-acetylaspartate” can provide more information on the latest research and clinical studies related to this condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. It allows patients and families to search for ongoing or completed clinical trials related to Canavan disease.

In addition to these resources, there are advocacy groups and organizations that work to raise awareness about Canavan disease, support research, and provide assistance to affected individuals and their families. These organizations often organize events and conferences where patients and families can learn more and connect with others going through similar experiences.

It is important for patients and their families to stay informed and engage with the available resources and support systems to better manage the challenges associated with Canavan disease. By participating in research and accessing support networks, patients can have a voice in advocacy and contribute to the understanding and treatment of this rare condition.

See also  ARG1 gene

Research Studies from ClinicalTrialsgov

Canavan disease is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the ASPA gene, which leads to a deficiency in the enzyme responsible for breaking down a substance called N-acetylaspartate (NAA). Without this enzyme, NAA accumulates in the brain and causes damage to myelin, the protective covering of nerve cells. Canavan disease is inherited in an autosomal recessive manner, which means that both parents must be carriers of the mutated ASPA gene for a child to be affected.

ClinicalTrialsgov is a valuable resource for finding information about ongoing clinical studies on Canavan disease and other rare genetic diseases. It provides a catalog of studies covering various aspects of the condition, including its causes, frequency, and inheritance. The website also offers resources for patient advocacy and support, as well as additional information on genetic testing and other related topics.

By searching for “Canavan disease” on ClinicalTrialsgov, one can find a list of research studies that are currently recruiting patients or have been completed. These studies aim to further understand the disease and develop new treatments or interventions. Patients and their families can also find information on clinical trials for Canavan disease without searching for specific studies.

For more scientific articles on Canavan disease, PubMed and OMIM (Online Mendelian Inheritance in Man) are valuable sources. PubMed provides a comprehensive database of scientific literature, including research papers and reviews on various genetic diseases, including Canavan disease. OMIM is a catalog of human genes and genetic disorders, providing detailed descriptions and references for each gene or disease.

In conclusion, research studies from ClinicalTrialsgov, along with other resources such as PubMed and OMIM, provide valuable information on Canavan disease and other rare genetic conditions. These resources help researchers, healthcare professionals, and patients to learn more about the disease, its causes, and potential treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic disorders, including Canavan disease. It covers studies, clinical trials, genetic inheritance, frequency, causes, and associated genes.

Canavan disease is a rare genetic disorder that affects the development and function of myelin in the brain. It is caused by mutations in the ASPA gene, which leads to a deficiency of the enzyme aspartoacylase. Without this enzyme, a substance called N-acetylaspartate (NAA) accumulates in the brain, leading to the destruction of myelin.

The Catalog of Genes and Diseases from OMIM provides a wealth of information on Canavan disease. It includes references to scientific articles and clinical trials, covering various aspects of the disease. The catalog also contains additional resources, such as patient advocacy groups and research centers, where individuals can learn more about Canavan disease.

Researchers and healthcare professionals can use the Catalog of Genes and Diseases from OMIM to find information on other rare diseases as well. The catalog lists genes associated with these diseases, inheritance patterns, clinical features, and more. It serves as a valuable tool for research, clinical practice, and genetic testing.

For those interested in Canavan disease, the catalog provides a comprehensive overview of the condition. It includes information on the frequency of Canavan disease, genetic inheritance, clinical features, and treatment options. The catalog also references articles and studies from PubMed, a trusted database for scientific research.

Key Information Available in the Catalog:

  • Clinical features of Canavan disease
  • Genes associated with Canavan disease
  • Inheritance patterns of Canavan disease
  • Treatment options for Canavan disease
  • Frequency of Canavan disease
  • References to scientific articles and studies on Canavan disease
  • Additional resources for learning about Canavan disease

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone seeking information on Canavan disease and other rare genetic disorders. It provides a comprehensive catalog of genes associated with various diseases, clinical features, inheritance patterns, and treatment options. Researchers, healthcare professionals, and individuals affected by these conditions can benefit from the wealth of information available in this catalog.

Scientific Articles on PubMed

Canavan disease, also known as Canavan-van Bogaert-Bertrand disease, is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the ASPA gene, which leads to a deficiency of the enzyme aspartoacylase. This deficiency results in the accumulation of a compound called N-acetylaspartate (NAA) in the brain, leading to the destruction of myelin, the protective covering of nerve cells.

Scientific articles on PubMed covering Canavan disease provide valuable information on the clinical presentation, diagnosis, and management of this rare condition. They also include studies on the frequency of Canavan disease in different populations and the genetic causes of the disease. These articles can be helpful for healthcare professionals, researchers, and advocacy organizations working with Canavan disease patients.

PubMed, a resource provided by the National Center for Biotechnology Information (NCBI), is a comprehensive catalog of scientific articles from various biomedical journals. Using keywords such as “Canavan disease,” “Canavan-van Bogaert-Bertrand disease,” and “NAA and myelin,” researchers can find a wealth of articles on Canavan disease and related topics.

One of the key studies on Canavan disease listed in PubMed is a clinical trial (NCT01379730) investigating the safety and effectiveness of gene therapy for this condition. This trial aims to evaluate a potential treatment option that may alleviate the symptoms of the disease and improve the quality of life for patients.

In addition, PubMed provides access to references from other scientific articles that have cited these studies, allowing researchers to explore further information and resources on Canavan disease.

Advocacy organizations, such as the Canavan Foundation, also play a crucial role in supporting Canavan disease patients and their families. These organizations provide information on the disease, connect patients with clinical trials and research studies, and offer support and resources for managing the condition.

In conclusion, scientific articles on PubMed offer a wealth of information on the clinical presentation, genetic causes, and management of Canavan disease. Researchers, healthcare professionals, and advocacy organizations can rely on these articles to learn more about this rare genetic condition, its associated genes, and potential treatment options.

References

Related Posts