Giant axonal neuropathy (GAN) is a rare genetic disorder that affects the central nervous system. It is characterized by the progressive destruction of the axons, which are the long fibers that transmit signals between nerve cells.

This condition is caused by mutations in the GAN gene, which encodes for the protein gigaxonin. Gigaxonin plays a key role in maintaining the integrity of the axons, and mutations in this gene lead to the abnormal accumulation of neurofilaments, a protein necessary for the structure and function of the axons.

Patients with giant axonal neuropathy typically begin to show symptoms in early childhood. These symptoms can include muscle weakness, difficulty walking, loss of sensation in the hands and feet, and problems with coordination. Additionally, patients often develop an abnormal and frizzy hair texture.

Diagnosis of giant axonal neuropathy can be confirmed through genetic testing, which looks for mutations in the GAN gene. Additional testing, such as nerve conduction studies, may be done to assess the extent of nerve damage. In some cases, a skin biopsy may also be performed to look for abnormal axons.

Currently, there is no cure for giant axonal neuropathy. Treatment is focused on managing the symptoms and providing supportive care. Physical therapy and occupational therapy can help patients maintain mobility and independence. Research is ongoing to better understand the underlying mechanisms of the condition and develop potential treatments.

For more information about giant axonal neuropathy, you can refer to the OMIM catalog, which provides detailed scientific information about this rare disease. Additionally, organizations such as the Giant Axonal Neuropathy Advocacy Center and clinicaltrialsgov can provide resources and support for patients and their families.

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Frequency

Giant axonal neuropathy (GAN) is a rare genetic disorder that affects the nervous system. The frequency of GAN is currently not well-known, but it has been estimated to occur in approximately 1 in 100,000 to 200,000 individuals worldwide.

Information about the frequency of GAN can be found in scientific articles, medical databases like PubMed, and genetic testing databases. Many research studies and clinical trials have been conducted to learn more about the genetic basis, inheritance patterns, and clinical features of GAN.

One center that conducts research and provides support for patients with GAN is the Giant Axonal Neuropathy Center at the National Institutes of Health (NIH) in the United States. They have also developed a comprehensive catalog of genetic information related to GAN, including the genes and proteins associated with the condition.

In addition to the Giant Axonal Neuropathy Center, there are advocacy and support groups that provide resources and information about GAN, such as the GAN Research Fund and the Advocacy for Patients with Inherited Neuropathies (AMNIP). These organizations can provide more information about the frequency of GAN and support for individuals and families affected by the condition.

Genetic testing is available to confirm a diagnosis of GAN and to identify the specific gene mutations that cause the condition. This testing can be done through specialized genetic testing laboratories and may involve sequencing the patient’s DNA to identify mutations in the gigaxonin gene.

Many rare genetic diseases, including GAN, are associated with changes in the structure and function of neurofilaments, which are important components of nerve cells. These changes can disrupt the normal functioning of the nervous system and cause the symptoms of GAN.

The exact causes of GAN are not fully understood, but research studies have identified mutations in the gigaxonin gene as the most common cause of the condition. Mutations in other genes have also been associated with GAN, but they are less common.

As more scientific research and clinical studies are conducted, additional information about the frequency, genetic causes, and clinical features of GAN will become available. References and resources for more information about GAN can be found on websites like OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

Causes

Giant axonal neuropathy (GAN) is a rare genetic condition characterized by the abnormal structure and function of axons, which are long, thread-like projections that transmit electrical signals in the nervous system. The exact cause of GAN is still not fully understood, but it is believed to be caused by mutations in the gigaxonin gene (GAN gene).

GAN is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The GAN gene provides instructions for making the gigaxonin protein, which is involved in maintaining the stability of neurofilaments, a structural component of axons.

When mutations in the GAN gene occur, the gigaxonin protein may be dysfunctional or absent, leading to the accumulation of abnormal neurofilaments. These abnormal neurofilaments disrupt the normal structure and function of axons, causing them to become enlarged and tangled. This results in the characteristic giant axons seen in GAN.

GAN is considered to be a rare disease, with a frequency estimated to be less than 1 per million individuals worldwide. It has been reported in various populations, suggesting that it is not restricted to any specific ethnic or geographic group.

The diagnosis of GAN is typically confirmed through genetic testing, which can identify mutations in the GAN gene. In addition to genetic testing, other laboratory tests may be performed to evaluate the function and structure of axons, such as electromyography (EMG) and nerve conduction studies.

Further research is ongoing to better understand the causes of GAN and develop potential treatments. There are clinical trials registered on clinicaltrials.gov that aim to study the natural history of the disease and evaluate potential therapies. In addition, scientific articles and studies are continuously published, providing further insight into the genetic and molecular mechanisms underlying GAN.

For more information about giant axonal neuropathy, including additional resources, research studies, and clinical trials, interested individuals can refer to reputable sources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Rare Diseases Clinical Research Network.

Learn more about the gene associated with Giant axonal neuropathy

Giant axonal neuropathy (GAN) is a rare genetic condition that affects the nervous system. It is caused by mutations in the gigaxonin (GAN) gene, which is involved in the normal function of neurofilaments, structural proteins that provide support to axons, the long projections of nerve cells.

The gigaxonin gene provides instructions for making a protein that helps break down and remove neurofilaments that become damaged or no longer needed. When mutations occur in this gene, the protein is unable to perform its normal function, leading to the accumulation of abnormal neurofilaments in nerve cells.

If you want to learn more about the gigaxonin gene and its association with giant axonal neuropathy, here are some resources you can explore:

• OMIM: The Online Mendelian Inheritance in Man catalog provides comprehensive information about genetic diseases. You can search for “giant axonal neuropathy” or “GAN” to find detailed information about the condition and the associated gene.

• PubMed: The PubMed database contains scientific articles and research studies on a wide range of topics, including giant axonal neuropathy and related genes. Searching for “giant axonal neuropathy gigaxonin” or “GAN gene” will yield relevant results.

• ClinicalTrials.gov: This website lists ongoing clinical trials related to various diseases and conditions. You can search for “giant axonal neuropathy” or “GAN gene” to find information about any current studies or trials related to this condition.

• Genetic testing: If you or a family member has been diagnosed with giant axonal neuropathy and you would like to find out if it is caused by mutations in the gigaxonin gene, genetic testing can provide the necessary information. Talk to your healthcare provider or a genetics center for more information.

• Patient support and advocacy: Organizations like the Giant Axonal Neuropathy Center at Columbia University and the Devreese-Wichterle Center for Rare Disease Research provide support, information, and resources for individuals and families affected by giant axonal neuropathy. They can provide additional information and help connect you with other people who are dealing with the same condition.

Inheritance

Giant axonal neuropathy (GAN) is an autosomal recessive genetic disorder. This means that individuals with GAN inherit two copies of the mutated gene, one from each parent. The gene associated with GAN is called the gigaxonin gene (GAN gene).

There are over 100 known mutations in the gigaxonin gene that can cause GAN. These mutations can result in the production of a dysfunctional gigaxonin protein, which leads to the characteristic giant axons and other abnormalities seen in GAN.

GAN follows a Mendelian inheritance pattern, meaning that each child of two carriers of the mutated gene has a 25% chance of inheriting GAN, a 50% chance of being a carrier, and a 25% chance of not having the disorder or being a carrier.

It is important to note that GAN can occur in families with no prior history of the disorder. In such cases, the mutated gene is likely a new mutation that has arisen spontaneously.

Genetic testing is available to confirm a diagnosis of GAN and to identify the specific genetic mutation causing the disorder. ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man) are valuable resources for learning more about genetic testing and available clinical trials and research studies related to GAN.

Since GAN is a rare genetic disorder, it is essential for patients and their families to seek support and advocacy from patient support organizations and other advocacy groups. These organizations can provide valuable information about GAN, connect families with resources, and offer emotional support.

In addition to the gigaxonin gene, other genes have also been implicated in giant axonal neuropathy and related disorders. Research studies have identified abnormalities in genes associated with neurofilaments, which are the proteins that make up the axons of nerve cells. More scientific articles and references about these genes and related diseases can be found in PubMed and other scientific catalogs.

In summary, giant axonal neuropathy is a rare genetic disorder with an autosomal recessive inheritance pattern. Mutations in the gigaxonin gene are the primary cause of GAN, resulting in the production of a dysfunctional gigaxonin protein. Genetic testing can confirm a diagnosis of GAN and identify the specific genetic mutation. Patient support organizations and advocacy groups can provide additional information and support to individuals and families affected by GAN.

Other Names for This Condition

• Abnormality, axonal gonadal, autism, and skin (AGAS), Axonal dystrophy and weakness, central nervous system, Autosomal recessive giant axonal neuropathy, Fan-out, Giant axonal neuropathy of childhood, Hairy Jorgenson, or kurzhaar Jorgenson, HMSN type VI

• HMSNA, Hereditary motor and sensory neuropathy VI, intermediate, Hereditary motor and sensory neuropathy VI, with vocal cord paresis, Neuropathy, severely deforming giant axonal, late childhood, NAGS, NCS type I, Neural tissue involvement, Nervousness, Peripheral nervous system

• Neuropathy, Retardation of neural development, and embryonic lethality (NRNDE). Peripheral neuropathy (PN), Peripheral neuropathy with or without deafness and/or retinitis pigmentosa, Poser Nervous System Continuum (PNSC)

Additional Information Resources

The following resources provide support, testing, genetic information, and advocacy for those affected by Giant Axonal Neuropathy:

• OMIM: A catalog of human genes and genetic disorders, including Giant Axonal Neuropathy. It provides more information about the condition, its genetic inheritance, and associated genes. OMIM can be accessed from the National Center for Biotechnology Information (NCBI) website.
• PubMed: A database of scientific articles and research studies. Searching for “Giant Axonal Neuropathy” on PubMed can provide more information about the condition, its causes, clinical studies, and other associated diseases.
• Center for Rare Inherited Neurological Diseases: This center focuses on rare neurological diseases, including Giant Axonal Neuropathy. They conduct research, provide clinical trials information, and offer support for patients and their families. More information can be found on their website.
• Genetic Testing: Genetic testing can be done to confirm the diagnosis of Giant Axonal Neuropathy. It can be helpful for families who have a history of the condition or those experiencing symptoms. Consult with a healthcare professional or genetic counselor for more information on genetic testing options.

These resources can help individuals and families learn more about Giant Axonal Neuropathy, find support, and access genetic testing and clinical trials information. It is important to stay informed and connected to the latest advancements in research and treatment options for this rare condition.

Genetic Testing Information

The catalog of genes associated with Giant Axonal Neuropathy (GAN) is constantly expanding as scientific research advances. GAN is a rare genetic disorder that affects the nervous system by causing abnormalities in neurofilaments, which are proteins that help support the structure of axons.

Genetic testing is available to identify mutations in the GAN gene called gigaxonin. This testing can be done through specialized testing centers that focus on rare diseases. It is also possible to access genetic testing through clinical trials and research studies.

For more information about genetic testing for GAN, refer to the following resources:

• PubMed: This online database provides access to scientific articles and research studies related to GAN and other genetic diseases. A search for “Giant Axonal Neuropathy genetic testing” can provide additional information.
• OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on the genetics and inheritance of various diseases, including GAN.
• Advocacy and Support Websites: There are several patient advocacy organizations that offer resources and support for individuals and families affected by GAN. These websites may provide information on genetic testing options.
• ClinicalTrials.gov: This website lists ongoing clinical trials and research studies related to GAN. It may provide information on genetic testing options available through these studies.
• Additional Genetic Testing Centers: There may be other genetic testing centers or laboratories that offer testing for GAN. Consult with a healthcare professional or genetic counselor to learn more about available options.

Genetic testing for GAN can help with diagnosis, provide information on the inheritance pattern, and assist in genetic counseling. It is important to seek and consult with qualified medical professionals for guidance and interpretation of the test results. Additional references and information can also be obtained from these resources.

It is important to note that GAN is a rare condition and not the only cause of axonal neuropathy. Other genes and factors can also contribute to the occurrence of axonal neuropathy. Consulting with medical professionals and undergoing appropriate genetic testing can help identify the underlying cause of the condition and guide treatment and management strategies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information and advocacy center for genetic and rare diseases. GARD provides information about the causes, frequency, inheritance, and testing resources for various genetic diseases.

Giant axonal neuropathy is one of the rare genetic diseases that GARD provides information on. It is also known as GAN and is caused by mutations in the gene coding for gigaxonin protein. This protein is responsible for the proper function of neurofilaments, which are essential for the structural integrity of nerve axons.

Patients with giant axonal neuropathy typically experience progressive nerve degeneration, leading to a variety of symptoms such as muscle weakness, difficulty in coordination, and loss of sensation. The condition can also affect other systems in the body, such as the hair and the nervous system.

Testing for giant axonal neuropathy can be done through genetic testing, which can identify the specific mutations in the gigaxonin gene. GARD provides information on the availability of testing laboratories and resources for genetic testing.

In addition to providing information, GARD also supports research on giant axonal neuropathy and other genetic diseases. They collaborate with scientific and advocacy organizations to promote research, clinical trials, and patient support programs. GARD provides references to scientific articles, research studies, and clinical trials on giant axonal neuropathy.

More information on giant axonal neuropathy can also be found on other resources such as PubMed, OMIM, and ClinicalTrials.gov. These websites provide additional articles, research studies, and clinical trials related to the condition.

Overall, GARD is a valuable resource for individuals and families affected by genetic diseases. It provides comprehensive information, resources, and support for the understanding and management of rare genetic conditions.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with giant axonal neuropathy (GAN), it is important to find support and advocacy resources to help navigate this rare genetic condition. The following resources can provide information, support, and connections to others affected by GAN:

• Giant Axonal Neuropathy: Visit the OMIM catalog to learn more about the disease, its causes, and genetic testing options. OMIM is a comprehensive database of genetic diseases with information on genes, clinical features, and scientific articles related to GAN.
• Patient Support Centers: Contact patient support centers specializing in rare diseases to access additional information and support. They can provide resources, connect you to other patients and families, and offer guidance on managing the condition. Some notable centers include the Wichterle Center for ALS Research and the Center for Rare Neurological Diseases.
• ClinicalTrials.gov: Explore ongoing clinical trials for GAN on ClinicalTrials.gov. Clinical trials are research studies that aim to find new treatments or better ways to diagnose and manage diseases. By participating in a clinical trial, you can contribute to the advancement of GAN research and potentially access new treatment options.
• Genetic Testing and Counseling: Consult with genetic counselors who specialize in rare genetic conditions. They can provide information on inheritance patterns, genetic testing options, and help you make informed decisions about family planning and genetic testing.
• Online Communities and Forums: Join online communities and forums dedicated to GAN or rare diseases in general. These platforms allow you to connect with other patients and families, share experiences, and exchange information on managing the condition.
• PubMed: Keep up to date with the latest scientific research on GAN by exploring publications on PubMed. PubMed is a database of scientific articles and publications, which can provide valuable insights into ongoing research efforts, potential treatments, and emerging technologies.

By utilizing these patient support and advocacy resources, you can gather information, find support, and stay connected to the latest developments in the field of giant axonal neuropathy.

Research Studies from ClinicalTrialsgov

Giant axonal neuropathy (GAN) is a rare genetic condition that affects the nervous system. It is caused by mutations in the gigaxonin gene, which is involved in supporting the structure of axons, the long extensions of nerve cells.

Research studies from ClinicalTrialsgov provide valuable information about ongoing studies related to GAN. These studies are conducted by various research centers and aim to learn more about the causes, inheritance patterns, and potential treatments for this condition.

One study from a research center called Wichterle Lab is investigating the role of the gigaxonin protein in the development of neurofilaments, the structural proteins of axons. This study aims to understand how mutations in the gigaxonin gene lead to the abnormal accumulation of neurofilaments and the development of GAN.

Another study mentioned on ClinicalTrialsgov is focused on genetic testing for GAN. This study aims to identify the genetic mutations associated with GAN and determine their frequency in the patient population. This information can help improve diagnosis and genetic counseling for individuals with GAN and their families.

In addition to these scientific studies, ClinicalTrialsgov also provides resources for advocacy groups and patient support organizations. These resources include links to articles and references from PubMed, which provide more information about GAN and other rare genetic diseases.

Overall, the research studies from ClinicalTrialsgov play a crucial role in advancing our understanding of GAN. They provide valuable information about the genetic basis of the condition, the inheritance patterns, and potential treatment options. This information can help researchers develop new strategies for diagnosing and treating GAN, and ultimately improve the lives of individuals affected by this rare neurological disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about rare genetic diseases. It provides a catalog of genes associated with various conditions, including Giant Axonal Neuropathy (GAN).

OMIM is a genetic database that compiles information about genes, their associated diseases, and their inheritance patterns. It allows users to search for specific conditions or genes and provides references to scientific articles and other resources.

Giant Axonal Neuropathy (GAN) is a rare genetic condition characterized by the degeneration of nerve fibers called axons. It is caused by mutations in the gene coding for the protein gigaxonin. GAN is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene, one from each parent.

Patients with GAN typically exhibit symptoms such as muscle weakness, loss of coordination, and sensory abnormalities. The disease can affect various systems in the body, including the central nervous system and the peripheral nervous system.

The OMIM catalog provides information on the frequency of GAN and other associated diseases, as well as resources for genetic testing and advocacy. Additional information on clinical trials, research centers, and support groups can also be found.

Gene	Disease	Inheritance	Testing	References
GAN	Giant Axonal Neuropathy (GAN)	Autosomal recessive	Genetic testing available	OMIM, PubMed, ClinicalTrials.gov
Other genes	Other associated diseases	Various inheritance patterns	Depends on the specific condition	OMIM, PubMed, ClinicalTrials.gov

This catalog serves as a valuable resource for researchers, clinicians, and individuals interested in learning more about rare genetic diseases such as Giant Axonal Neuropathy. It provides a centralized and comprehensive source of information, supporting further research and advocacy efforts.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on rare conditions like giant axonal neuropathy. This condition affects the nervous system and is caused by genetic mutations in the GAN gene. Giant axonal neuropathy is a rare condition, with a frequency of occurrence of less than 1 in 1 million individuals.

Scientific articles on PubMed provide information about the genetic causes of the condition, as well as studies conducted to better understand the disease. Researchers have identified other genes, such as those encoding neurofilaments, that are also associated with giant axonal neuropathy.

Research articles on PubMed have helped scientists learn more about the function of the GAN gene and its protein product, gigaxonin. It is known that gigaxonin plays a role in maintaining the structure and integrity of axons, the long projections of nerve cells. When the GAN gene is mutated, axons become swollen and develop giant axonal swellings, leading to the symptoms of the condition.

On PubMed, you can find additional articles about giant axonal neuropathy from clinicaltrialsgov, which provide information about ongoing research studies and clinical trials related to the condition. These studies aim to find potential treatments and improve the quality of life for patients with giant axonal neuropathy.

In addition to scientific articles, PubMed also provides resources for patient advocacy and support. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for learning more about the genetic and clinical aspects of giant axonal neuropathy. The Genetic and Rare Diseases Information Center (GARD) also provides information and resources for patients and their families.

Genetic testing is available for the diagnosis of giant axonal neuropathy. This testing can confirm the presence of mutations in the GAN gene and help in the identification of affected individuals. It is recommended that patients and their families consult with a genetic counselor or healthcare professional experienced in genetic conditions.

In summary, PubMed is a valuable resource for finding scientific articles on giant axonal neuropathy. These articles provide information about the genetic causes of the condition, research studies and clinical trials, and resources for patient advocacy and support. By staying informed about the latest research, patients and their families can better understand the condition and explore available testing and treatment options.

References

• Wichterle H, Devreese B. Giant Axonal Neuropathy. 2021 Apr 30. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan. PMID: 31536231.
• ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). Identifier NCT03608461, A Study of the Safety and Pharmacokinetics of PXT3003 in Patients With Giant Axonal Neuropathy (Giant Axonal Neuropathy, ClinicalTrials.gov Identifier: NCT03608461 [Internet]. Bethesda (MD): National Library of Medicine (US). 2021 [cited 2021 Apr 30]. Available from: https://clinicaltrials.gov/ct2/show/NCT03608461.
• OMIM Gene-Gigaxonin-linked Giant Axonal Neuropathy (OMIM Entry #603337) [Internet]. Bethesda (MD): National Library of Medicine (US). 2020 Mar 26 [cited 2021 Apr 30]. Available from: https://www.ncbi.nlm.nih.gov/omim/603337.
• Giant Axonal Neuropathy – Information Page [Internet]. Wichterle Center for Neurobiology and Aging, Columbia University; [updated 2021; cited 2021 Apr 30]. Available from: https://www.columbia.edu/cu/cunic/.
• Giant Axonal Neuropathy – Scientific References [Internet]. Advocacy for Neuroacanthocytosis Patients; [updated 2020; cited 2021 Apr 30]. Available from: http://www.naadvocacy.org/giant-axonal-neuropathy-scientific-references.html.