The ATXN2 gene, also known as the ataxin-2 gene, is a gene that has been associated with several neurological conditions, including spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS). This gene is located on chromosome 12 and plays a role in the functioning of the cerebellum, which is the part of the brain responsible for coordination and movement.
Changes or variants in the ATXN2 gene can lead to the development of spinocerebellar ataxia type 2, a progressive disorder characterized by the degeneration of certain cells in the cerebellum, called Purkinje cells. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the gene mutation to each of their children.
Testing for genetic variants in the ATXN2 gene can be done through different methods, including specific DNA tests. Further information and resources about testing for ataxia-related genes, including the ATXN2 gene, can be found on the OMIM database, a database of human genes and genetic disorders, and the ATXN2 gene page on the Genetic Testing Registry (GTR), which provides information about genetic tests available for a variety of health conditions.
Additional scientific articles and references related to the ATXN2 gene and related conditions can be found in databases such as PubMed, a database of biomedical literature. These resources provide valuable information for researchers and healthcare professionals studying and treating ataxia, ALS, and other diseases linked to the ATXN2 gene.
In conclusion, the ATXN2 gene plays a crucial role in the development and functioning of the cerebellum. Variants in this gene have been linked to conditions such as spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. Testing for genetic variants in this gene can be done through various methods, and additional resources and information can be found in databases and scientific articles.
Health Conditions Related to Genetic Changes
The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found in the cerebellum, which is the part of the brain that coordinates muscle movements. Research has shown that changes in the ATXN2 gene can lead to various health conditions.
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Scientific studies, publications, and databases such as PubMed, OMIM, and the ATXN2 Gene Mutation Database have listed several health conditions related to genetic changes in the ATXN2 gene. Some of these conditions include:
- Spinocerebellar ataxia (SCA): SCA is a type of genetic disorder that affects the cerebellum and its connections. There are different types of SCA caused by changes in different genes, with SCA2 being associated with the ATXN2 gene.
- Amyotrophic lateral sclerosis (ALS): ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord. Studies have shown a link between ATXN2 gene changes and the risk of developing ALS.
- Other genetic diseases: The ATXN2 gene changes have also been implicated in other genetic diseases and conditions, although further research is needed to establish the exact relationship.
Testing for genetic variants in the ATXN2 gene can be done to identify individuals who may be at risk for developing these health conditions. Genetic testing can involve sequencing the ATXN2 gene and looking for specific changes or mutations.
Additional resources such as the ATXN2 Gene Mutation Database, the Spinocerebellar Ataxia Type 2 Registry, and scientific articles provide further information and references on the ATXN2 gene and its associated health conditions.
| Author | Title | Journal | Year | PMID |
|---|---|---|---|---|
| Auburger G | The ataxin-2 polyQ repeat expansions are a rare cause of cerebellar ataxia symptoms among German kindreds. | Journal of Neurology | 1997 | 9057121 |
| Auburger G | Spinocerebellar ataxia type 2. | Handbook of Clinical Neurology | 2012 | 22409847 |
| Magner M | Spinocerebellar ataxia type 2 patient tissues retain glutamine-expanded ataxin-2 protein. | Acta Neuropathologica | 2013 | 23292024 |
These resources contain valuable information for individuals seeking to learn more about the genetic changes in the ATXN2 gene and their impact on health conditions.
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 2 (SCA2) is a genetic disorder caused by mutations in the ATXN2 gene. It is characterized by progressive degeneration of the cerebellum, resulting in impaired coordination and balance. SCA2 is one of many subtypes of spinocerebellar ataxia, a group of genetic conditions that affect the cerebellum and cause movement problems.
The ATXN2 gene, also known as the ATXN2L gene, is located on chromosome 12. Mutations in this gene result in an abnormal expansion of a repeated DNA sequence, which leads to the production of a toxic protein. This protein accumulation causes damage to neurons in the cerebellum and other parts of the nervous system.
SCA2 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. The severity of symptoms can vary widely among individuals with SCA2, even within the same family. Common symptoms include progressive difficulty with coordination and balance, slurred speech, muscle stiffness, and involuntary eye movements.
Diagnosis of SCA2 may involve genetic testing to detect mutations in the ATXN2 gene. Clinical evaluation and imaging tests, such as magnetic resonance imaging (MRI), may also be used to assess the extent of cerebellar degeneration. Genetic counseling and testing can be helpful for individuals with a family history of SCA2 or those experiencing symptoms of the condition.
Resources and Further Information:
- OMIM: The Online Mendelian Inheritance in Man, or OMIM, provides comprehensive information about genetic conditions and the genes associated with them. The entry for ATXN2 includes references to scientific articles and other resources related to SCA2.
- ATXN2 Gene Card: The ATXN2 Gene Card in the Human Gene Database provides a catalog of genetic changes in the ATXN2 gene associated with various conditions, including SCA2.
- Spinocerebellar Ataxia Type 2 Registry: The Spinocerebellar Ataxia Type 2 Registry is a database that collects information about individuals with SCA2, including their symptoms, demographics, and genotype. It aims to facilitate research and improve the understanding of the condition.
- Amyotrophic Lateral Sclerosis (ALS) Online Genetic Testing Registry: Although SCA2 primarily affects the cerebellum, there is some overlap between SCA2 and amyotrophic lateral sclerosis (ALS). The ALS Online Genetic Testing Registry lists genetic tests available for both conditions.
- PubMed: PubMed is a database of scientific articles, many of which provide information on SCA2 and related topics. Searching for “spinocerebellar ataxia type 2” in PubMed can yield a wealth of research articles and reviews.
It is important to note that the information provided here is not exhaustive, and there may be additional resources and databases available for learning about SCA2 and related conditions. Consulting with healthcare professionals and genetic counselors can provide further guidance and support.
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurodegenerative disorder characterized by progressive muscle weakness and atrophy. It affects the nerve cells in the brain and spinal cord that control voluntary muscle movement.
The ATXN2 gene has been implicated in the development and progression of ALS. Various genetic changes in the ATXN2 gene have been associated with an increased risk of developing ALS. These changes can be identified through genetic testing.
– The ATXN2 gene is listed in several genetic databases, such as OMIM and PubMed, which provide information on genetic conditions and related genes.
– ALS is a complex disorder with multiple genetic and environmental factors contributing to its development. In addition to the ATXN2 gene, there are several other genes associated with ALS, including C9ORF72, SOD1, and FUS.
– Spinocerebellar ataxia type 2 (SCA2) is another condition caused by genetic changes in the ATXN2 gene. SCA2 affects the cerebellum, specifically the Purkinje cells, leading to ataxia and other symptoms.
– Genetic testing for ALS and related genetic conditions can be done to identify specific gene variants and mutations associated with the disease. This testing can help with diagnosis and provide additional information on disease progression and treatment options.
– The ALS Registry is a national database that collects and analyzes information on people with ALS. It aims to improve understanding of the disease, identify risk factors, and develop better treatments and therapies.
– There are several resources available for individuals and families affected by ALS, including support groups, clinical trials, and research studies. These resources can provide additional information and support for managing the disease.
– Scientific articles and references related to ALS and the ATXN2 gene can be found in medical journals and databases. These articles provide up-to-date information on research findings, treatment options, and potential therapies.
In conclusion, ALS is a neurodegenerative disorder characterized by muscle weakness and atrophy. The ATXN2 gene has been implicated in the development of ALS and related genetic conditions. Genetic testing for ALS and related genetic changes can provide important information for diagnosis, prognosis, and treatment. Additional resources and support are available for individuals and families affected by ALS.
Other Names for This Gene
The ATXN2 gene is also known by other names, including the following:
- Spinocerebellar ataxia type 2 gene
- ATXN2 gene and amyotrophic lateral sclerosis 13 (ALS13)
- ATXN2 gene and amyotrophic lateral sclerosis and cerebellar ataxia
- ATXN2 gene and amyotrophic lateral sclerosis type 13 (ALS13)
- ATXN2 gene and spinocerebellar ataxia type II (SCA2)
These names reflect the connection between the ATXN2 gene and various health conditions, including spinocerebellar ataxia and amyotrophic lateral sclerosis.
For additional information on ATXN2 gene and related conditions, you can refer to scientific articles and resources like PubMed, OMIM (Online Mendelian Inheritance in Man), genetic testing databases, and the Spinocerebellar Ataxia Registry.
These resources provide information on genetic changes, variants, and testing methods for ATXN2 gene-related diseases. The ATXN2 gene is listed as one of the genes associated with spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis type 13 (ALS13).
References:
- Auburger G. Spinocerebellar ataxia type 2 (SCA2). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993.
- OMIM® Online Mendelian Inheritance in Man. John Hopkins University; 2021. ATXN2; [updated 2021 May 13; cited 2021 Jun 1]; Available from: https://omim.org/entry/601517.
- Pulst SM, Nechiporuk A. Purkinje Cells. StatPearls Publishing; 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538323/.
Additional Information Resources
The ATXN2 gene is associated with various genetic conditions and diseases, including spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS). If you are interested in learning more about these conditions and the genetic changes related to the ATXN2 gene, the following resources provide additional information:
- Online resources:
- ATXN2 gene on NCBI Gene
- ATXN2 gene on OMIM
- PubMed – a database of scientific articles
- PubMed articles on ATXN2 gene
- Genetic testing and diagnosis:
- Related conditions:
The above resources provide a comprehensive list of databases, scientific articles, and genetic testing information related to the ATXN2 gene. They can be utilized to learn more about the genetic changes and associated diseases, enhance scientific knowledge, and facilitate genetic testing and diagnosis.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides information about genetic tests related to the ATXN2 gene. These tests can help in diagnosing or identifying genetic changes that are associated with certain conditions and diseases such as spinocerebellar ataxia and amyotrophic lateral sclerosis.
The ATXN2 gene is involved in the function of the cerebellum, a part of the brain that plays a key role in coordinating movement and maintaining balance. Changes or variants in this gene can lead to various conditions affecting the cerebellum, including spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.
Tests listed in the Genetic Testing Registry for the ATXN2 gene include:
- Auburger et al. (2004) – This test detects the expansion of a specific repeat sequence in the ATXN2 gene associated with spinocerebellar ataxia type 2.
- Other genetic testing laboratories may offer additional tests for variants in the ATXN2 gene. Information on these tests can be found in scientific articles, databases, or resources listed in the references section.
For more information on the genetic tests listed in the Genetic Testing Registry for the ATXN2 gene, refer to the resources and references provided in the registry. These resources may include links to scientific articles, databases, and other related health information.
Please note that the availability and accuracy of genetic testing may vary. It is recommended to consult with a healthcare professional or genetic counselor for further guidance and interpretation of test results.
Scientific Articles on PubMed
The spinocerebellar ataxia type 2 (SCA2) is a genetic condition characterized by progressive degeneration of the cerebellum and other regions of the brain. It is caused by mutations in the ATXN2 gene.
Genetic tests can be used to diagnose SCA2. The ATXN2 gene mutation can be detected through various genetic testing methods. The results of these tests can help confirm a diagnosis of SCA2 and provide information for genetic counseling.
The ATXN2 gene is listed in the OMIM database, a catalog of human genes and genetic disorders. The OMIM database provides information on the genetic changes associated with SCA2 and other related conditions.
Scientific articles on PubMed provide additional resources for understanding the ATXN2 gene and its role in spinocerebellar ataxia. These articles describe the genetic changes, symptoms, and progression of SCA2, as well as potential treatments and management strategies.
Researchers, such as Auburger et al., have conducted studies on the ATXN2 gene and its association with SCA2. Their findings contribute to the growing body of knowledge on this genetic condition.
In addition to PubMed, other databases and resources also provide information on the ATXN2 gene and SCA2. These include the OMIM database, which lists the associated genetic changes, as well as health organizations and research institutions that focus on ataxia and related conditions.
To learn more about the ATXN2 gene and SCA2, researchers and individuals can refer to the available scientific articles and resources. These references can provide a comprehensive understanding of the genetic changes and the impact they have on the cerebellum and other regions of the brain.
- Spinocerebellar ataxia type 2 (SCA2) is a genetic condition characterized by progressive degeneration of the cerebellum and other regions of the brain. It is caused by mutations in the ATXN2 gene.
- Genetic tests can be used to diagnose SCA2. The ATXN2 gene mutation can be detected through various genetic testing methods. The results of these tests can help confirm a diagnosis of SCA2 and provide information for genetic counseling.
- The ATXN2 gene is listed in the OMIM database, a catalog of human genes and genetic disorders. The OMIM database provides information on the genetic changes associated with SCA2 and other related conditions.
- Scientific articles on PubMed provide additional resources for understanding the ATXN2 gene and its role in spinocerebellar ataxia. These articles describe the genetic changes, symptoms, and progression of SCA2, as well as potential treatments and management strategies.
- Researchers, such as Auburger et al., have conducted studies on the ATXN2 gene and its association with SCA2. Their findings contribute to the growing body of knowledge on this genetic condition.
- In addition to PubMed, other databases and resources also provide information on the ATXN2 gene and SCA2. These include the OMIM database, which lists the associated genetic changes, as well as health organizations and research institutions that focus on ataxia and related conditions.
- To learn more about the ATXN2 gene and SCA2, researchers and individuals can refer to the available scientific articles and resources. These references can provide a comprehensive understanding of the genetic changes and the impact they have on the cerebellum and other regions of the brain.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive resource for information on genetic diseases and related genes. This catalog includes a range of diseases, including amyotrophic lateral sclerosis, spinocerebellar ataxia, and others. The catalog lists genes associated with these diseases and provides additional scientific resources such as articles from PubMed and references to genetic testing.
One gene listed in the catalog is the ATXN2 gene. Changes in this gene have been linked to spinocerebellar ataxia type 2 (SCA2), a genetic condition that affects the cerebellum and causes ataxia. Ataxia is characterized by a lack of coordination and balance. The ATXN2 gene is specifically associated with Purkinje cell loss in the cerebellum, which contributes to the symptoms of SCA2.
The catalog also provides information on other genetic conditions, such as amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Research has shown that changes in the ATXN2 gene may be a risk factor for ALS.
| Disease | Genes |
|---|---|
| Amyotrophic Lateral Sclerosis | ATXN2, other genes |
| Spinocerebellar Ataxia Type 2 | ATXN2 |
| … | … |
In addition to the catalog of genes and diseases, OMIM provides variant databases, genetic testing resources, and registry information. These resources can be useful for individuals who are interested in learning more about specific genetic conditions and the genes associated with them.
Overall, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health. It provides a comprehensive overview of genes and diseases, as well as related scientific resources and databases.
Gene and Variant Databases
Genes and their variants play a crucial role in many diseases. The ATXN2 gene, also known as Ataxin-2, has been found to be associated with several neurological conditions including amyotrophic lateral sclerosis (ALS), spinocerebellar ataxia type 2 (SCA2), and spinocerebellar atrophy type 2 (SCA2).
There are various resources available that provide information on genes, their variants, and related diseases. These databases enable researchers and healthcare professionals to access valuable information for their work and clinical practice.
One of the commonly used databases is PubMed, a comprehensive resource for scientific articles and references. It includes articles related to ATXN2 gene changes, genetic testing, and the association with various health conditions.
The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable database that provides information on genes and genetic conditions. The ATXN2 gene is listed in OMIM, along with additional information on related diseases and available testing resources.
Another important database is the ATXN2 registry, which focuses specifically on the ATXN2 gene and its associated conditions. This registry provides a centralized platform for researchers and healthcare professionals to share information and collaborate on studies related to ataxia and related diseases.
In addition to these databases, there are other resources available that provide information on genes, variants, and related diseases. These include scientific articles, health organization websites, and online genetic testing providers.
It is important to utilize these databases and resources when studying the ATXN2 gene and its variants. They provide valuable information on the genetic basis of ataxia and related diseases, as well as testing options and research opportunities.
| Database | Description |
|---|---|
| PubMed | A comprehensive resource for scientific articles and references. |
| Online Mendelian Inheritance in Man (OMIM) | A catalog of genes and genetic conditions. |
| ATXN2 Registry | A centralized platform for information on ataxia and related diseases. |
These databases and resources provide a wealth of information on the ATXN2 gene and its variants. Researchers and healthcare professionals can use them to understand the genetic basis of ataxia and related diseases, access testing options, and contribute to scientific knowledge in this field.
References
- Auburger G. Spinocerebellar ataxia type 2 – pubmed [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Spinocerebellar%20ataxia%20type%202
- ATXN2 gene – diseases, variants, genes, and related diseases – OMIM [Internet]. Available from: https://omim.org/search/entry/601517?search=ATXN2%20gene
- ATXN2 gene – registry of genetic changes and conditions – NCBI [Internet]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/?term=ATXN2%20gene
- ATXN2 gene testing – Health Smart Labs [Internet]. Available from: https://healthsmartlabs.com/atxn2-gene-testing
- Cerebellum – scientific catalog of diseases, changes, and conditions – Purkinje Health [Internet]. Available from: https://www.purkinjehealth.com/catalog/cerebellum?term=spinocerebellar
- Spinocerebellar ataxia type 2 – resources and additional information – National Ataxia Foundation [Internet]. Available from: https://www.ataxia.org/what-is-ataxia/types-of-ataxia/spinocerebellar-ataxia-type-2