Spinocerebellar ataxia type 2 (SCA2) is a rare genetic disorder characterized by progressive loss of muscle control. It is one of the most common types of hereditary ataxia, with a frequency of about one in 35,000 individuals worldwide. SCA2 is caused by mutations in the ATXN2 gene, which codes for the ataxin-2 protein.

The symptoms of SCA2 usually appear between the ages of 10 and 40 years, and the condition worsens over time. Patients with SCA2 experience uncoordinated movements, such as difficulty with balance and coordination, slurred speech, and tremors. These symptoms are the result of the degeneration of the cerebellum, the part of the brain responsible for coordinating voluntary movements.

SCA2 follows an autosomal dominant pattern of inheritance, which means that a person with one copy of the mutated gene has a 50% chance of passing it on to their children. Genetic testing is available for individuals at risk of SCA2, and it can confirm the diagnosis and provide important information for genetic counseling.

Currently, there is no cure for SCA2, and treatment focuses on managing the symptoms and improving the patient’s quality of life. Physical therapy, speech therapy, and medications can help alleviate some of the symptoms associated with SCA2. Research is ongoing to better understand the underlying causes of the disease and develop new treatment options.

For more scientific information on Spinocerebellar ataxia type 2, you may refer to articles published in scientific journals such as PubMed, OMIM, and ClinicalTrials.gov. Additionally, advocacy organizations and support groups such as the National Ataxia Foundation and the Spinocerebellar Ataxia Support Center can provide additional resources and support for patients and their families.

Frequency

Spinocerebellar ataxia type 2 (SCA2) is a rare genetic condition associated with the ATXN2 gene. It is one of the many types of spinocerebellar ataxia, a group of genetic diseases characterized by progressive incoordination of movements.

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The frequency of SCA2 varies among different populations. It is more common in certain regions, such as Cuba, where it is the most common type of hereditary ataxia. In other populations, SCA2 is relatively rare.

According to scientific studies and research articles cataloged in resources like PubMed and OMIM, the prevalence of SCA2 ranges from 1 in 500 to 1 in 10,000 individuals worldwide. The exact prevalence may vary depending on the population studied and the criteria used for diagnosis.

Testing for SCA2 can be done through genetic testing, which involves analyzing the ATXN2 gene for mutations. This can provide confirmation of the diagnosis and help determine the inheritance pattern of the condition. Genetic counseling is often recommended for individuals and families affected by SCA2 to learn more about the condition and its implications for future generations.

More information about SCA2, including its clinical features, genetic inheritance, and causes, can be found in the scientific literature and on resources like OMIM and PubMed. These resources provide access to articles, research studies, and additional information on SCA2 and related diseases.

Support and advocacy organizations, such as the Spinocerebellar Ataxia Association (SCAA) and the National Ataxia Foundation (NAF), also provide resources and support for individuals and families affected by SCA2. These organizations offer information, patient support, and opportunities to participate in clinical trials and research studies.

Causes

The causes of Spinocerebellar Ataxia Type 2 (SCA2) are genetic mutations in the ATXN2 gene. The ATXN2 gene provides instructions for making a protein called ataxin-2, which is involved in the function of the cerebellum and other parts of the brain.

Studies have shown that a segment of the ATXN2 gene with an excessive number of CAG repeats is responsible for the development of SCA2. The length of the CAG repeats affects the severity and age of onset of the disease. Patients with 32-37 CAG repeats may have a milder form of the disease, while those with more than 38 CAG repeats often experience more severe symptoms at an earlier age.

SCA2 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. The frequency of SCA2 varies among different populations, with a higher prevalence reported in some regions of Venezuela.

References to SCA2 can be found in scientific articles, such as those listed in PubMed, as well as in the Online Mendelian Inheritance in Man (OMIM) database.

Additional information about SCA2, including symptoms, testing, and research studies, can be found on websites and resources such as Spinocerebellar Ataxia Information Page, National Institute of Neurological Disorders and Stroke (NINDS), and the Genetic Testing Registry.

Support and advocacy organizations, such as Ataxia UK and the National Ataxia Foundation, also provide resources and support for individuals and families affected by SCA2.

Clinical trials investigating possible treatments or management techniques for SCA2 can be found on ClinicalTrials.gov.

Learn more about the gene associated with Spinocerebellar ataxia type 2

Spinocerebellar ataxia type 2 (SCA2) is a rare genetic condition that affects the nervous system, specifically the cerebellum. This condition is caused by mutations in the ATXN2 gene.

The ATXN2 gene provides instructions for making a protein called ataxin-2. Research studies have shown that this protein is involved in the processing and movement of certain molecules within cells. It is thought to play a role in regulating the function of other genes and proteins that are important for the normal development and function of the cerebellum.

When the ATXN2 gene is mutated, the resulting ataxin-2 protein can become toxic to cells in the cerebellum. This toxic buildup leads to the degeneration of neurons, which are specialized cells that transmit signals in the nervous system. Over time, this loss of neurons can cause the symptoms associated with SCA2.

Most cases of SCA2 are inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the mutation to each of their children. However, there are some rare cases of SCA2 that occur sporadically, meaning they are not inherited from a parent.

SYMPTOMS:

The symptoms of SCA2 can vary widely from person to person. Some individuals may experience the onset of symptoms in their teenage years or early adulthood, while others may not develop symptoms until later in life.

Common symptoms of SCA2 include:

• Progressive loss of coordination and balance
• Slurred speech
• Difficulty with fine motor skills, such as writing or buttoning a shirt
• Tremors or jerky movements
• Muscle stiffness and weakness

DIAGNOSIS:

A diagnosis of SCA2 is typically made based on the individual’s clinical signs and symptoms, as well as genetic testing. Testing for mutations in the ATXN2 gene can confirm the diagnosis.

There are additional resources available for individuals and families affected by SCA2. These resources may provide support, information, and advocacy for those living with the condition. Some of these resources include:

• OMIM – an online catalog of human genes and genetic disorders that provides detailed information about SCA2 and its associated genes
• PubMed – a database of scientific articles that contains research studies on SCA2 and related topics
• ClinicalTrials.gov – a registry of clinical studies that are investigating new treatments or management strategies for SCA2

By learning more about the ATXN2 gene and the role it plays in SCA2, individuals and families affected by this condition can better understand the underlying causes and potential treatment options. This knowledge can empower them to make informed decisions about their healthcare and explore additional resources for support and information.

Inheritance

Spinocerebellar ataxia type 2 (SCA2) is a rare genetic condition that is inherited in an autosomal dominant pattern. This means that individuals with a single copy of the mutated gene have a 50% chance of passing on the condition to each of their children.

The gene associated with SCA2 is called ATXN2, which is located on chromosome 12. Mutations in this gene cause the production of an abnormal form of the protein ataxin-2, leading to the development of the symptoms associated with the condition.

Scientific studies have shown that the size of a specific segment of the gene, known as the CAG repeat, determines the severity and age of onset of SCA2. Normal individuals have between 13 and 31 CAG repeats, while individuals with SCA2 have between 32 and 200 CAG repeats. The longer the CAG repeat, the earlier the onset and the more severe the symptoms.

Spinocerebellar ataxia type 2 can be inherited from one affected parent or can occur as a result of a new genetic mutation. It can affect both males and females, and the symptoms usually begin to appear in adulthood, typically between the ages of 25 and 50.

To learn more about the inheritance patterns and genetic testing for SCA2, individuals can consult with a genetics professional or contact advocacy organizations such as the National Ataxia Foundation or the Spinocerebellar Ataxia Center of Excellence. These resources provide information on genetic testing, support services, and research studies related to SCA2.

Some additional resources for information on SCA2 include the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and clinicaltrials.gov. These sources provide access to research studies, clinical information, and updates on current research and clinical trials.

Other Names for This Condition

Spinocerebellar ataxia type 2, also known as SCA2, is a rare genetic disorder that affects the function of the cerebellum and spinal cord. It is caused by mutations in the ataxin-2 (ATXN2) gene. In scientific studies and research, this condition has also been referred to by other names, including:

• Spinocerebellar ataxia-2
• SCA2
• Ataxin-2 associated diseases
• Sporadic spinocerebellar ataxia type 2
• SCA2-related ataxia

These other names are often used in scientific literature and medical resources to describe the condition and its associated symptoms. They provide additional information and resources for the diagnosis, inheritance patterns, and clinical trials related to this rare genetic disorder.

Research on spinocerebellar ataxia type 2 has increased over the years, with scientific studies focused on understanding the underlying causes, symptoms, and genetic inheritance of the condition. Studies have also explored the frequency and types of movement abnormalities associated with SCA2.

For more information on spinocerebellar ataxia type 2 and related research, some additional resources include:

• The Spinocerebellar Ataxia Type 2 segment on the Genetic and Rare Diseases (GARD) Information Center website
• References to articles on PubMed related to SCA2 and ataxin-2
• The Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic basis of inherited diseases
• ClinicalTrials.gov, a database of clinical trials related to various conditions, including spinocerebellar ataxia type 2
• The Auburger Lab website, which focuses on research and advocacy for spinocerebellar ataxia type 2
• The Cruz Diaz Center for Scientific Research, which provides resources and support for patients with spinocerebellar ataxia type 2

These resources offer valuable information for patients, caregivers, and researchers, providing support and helping to further understanding of spinocerebellar ataxia type 2 and its impact on individuals and families.

Additional Information Resources

For more scientific information about Spinocerebellar Ataxia Type 2 (SCA2) and other related diseases, the National Center for Biotechnology Information (NCBI) offers several resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genetic disorders and their associated genes. The entry for SCA2 provides information on the symptoms, inheritance pattern, and other relevant details about the condition. It also includes references to scientific studies and articles on SCA2.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “Spinocerebellar Ataxia Type 2” or “SCA2” on PubMed can provide you with the latest research on the condition, including studies on its genetic causes, clinical presentations, and treatment options.
• The Genetic Testing Registry (GTR): GTR is a resource provided by the National Institutes of Health that allows you to find laboratories offering genetic testing for SCA2. It includes information about the tests, such as the laboratory that performs them, the genes they test for, and the availability of the testing.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials happening worldwide. Searching for “Spinocerebellar Ataxia Type 2” on ClinicalTrials.gov can provide you with information about ongoing or upcoming clinical trials investigating potential treatments or therapies for SCA2.

In addition to these scientific resources, there are also advocacy and support organizations that provide information and support to individuals and families affected by SCA2:

• National Ataxia Foundation (NAF): NAF is a non-profit organization dedicated to supporting individuals and families affected by ataxia, including SCA2. Their website provides resources, support groups, and information about the latest research and treatment options for ataxia.
• Ataxia UK: Ataxia UK is a registered charity in the UK that supports individuals and families affected by ataxia. Their website offers information, support services, and advocacy for individuals living with ataxia, including SCA2.

By accessing these additional resources, you can gain more information about SCA2, its symptoms, genetic inheritance patterns, and available support and research options.

Genetic Testing Information

Spinocerebellar ataxia type 2 (SCA2) is a rare genetic condition characterized by progressive loss of coordination and balance. It is caused by mutations in the ATXN2 gene.

Genetic testing for SCA2 can be performed to confirm a diagnosis or to determine if someone is a carrier of the mutation. This can be done through various methods, including sequencing the ATXN2 gene to identify any mutations or analyzing the number of repeats in the CAG segment of the gene.

ClinicalTrials.gov and PubMed are valuable resources for finding additional information about genetic testing for SCA2 and related studies. ClinicalTrials.gov provides information about ongoing clinical trials and research studies, while PubMed offers access to scientific articles and research papers.

When considering genetic testing, it is important to consult with a healthcare professional or a genetic counselor who can provide guidance and support. These professionals can help explain the testing process, interpret the results, and discuss the implications of testing for individuals and their families.

Inheritance of SCA2 follows an autosomal dominant pattern, meaning that an affected individual will have a 50% chance of passing the mutated ATXN2 gene to each of their children.

Some of the symptoms associated with SCA2 include progressive difficulties with coordination and balance, slurred speech, and involuntary eye movements. However, the severity and progression of symptoms can vary widely between individuals.

It is important to note that SCA2 is just one type of spinocerebellar ataxia, and there are many other types caused by mutations in different genes. Genetic testing can help differentiate between these different types and provide more accurate diagnoses.

For more information about SCA2 and genetic testing, the following resources can be useful:

• The National Ataxia Foundation: A organization that provides support and advocacy for individuals with ataxia and their families.
• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.
• Genetics Home Reference: A website maintained by the National Library of Medicine that provides information about genetic conditions and related genes.
• The Ataxia Center at Johns Hopkins: A center that offers diagnostic and testing services for various types of ataxia.
• Scientific publications and references available on PubMed related to SCA2 and genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides a comprehensive catalog of genetic and rare diseases, including Spinocerebellar Ataxia Type 2 (SCA2). SCA2 is a rare genetic disorder characterized by progressive problems with movement control.

SCA2 is caused by mutations in the ATXN2 gene. These mutations disrupt the normal function of the gene, leading to the production of a faulty protein called ataxin-2. This protein aggregates in the brain, causing damage to the cells responsible for coordinating movement.

Some of the most common symptoms of SCA2 include unsteady gait, poor coordination, tremors, and difficulty with speech and swallowing. The onset of symptoms typically occurs in adulthood, usually between the ages of 20 and 50.

SCA2 has an autosomal dominant inheritance pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, not everyone with a mutation in the ATXN2 gene will develop SCA2, indicating that other genetic and environmental factors may also play a role in the development of the disease.

Currently, there is no cure for SCA2, but there are supportive treatments available to alleviate some of the symptoms and improve quality of life for patients. Research is ongoing to better understand the causes and mechanisms of SCA2, as well as develop potential targeted therapies.

For additional information about SCA2 and other rare genetic diseases, the Genetic and Rare Diseases Information Center offers a wealth of resources, including a database with information on genetic testing, names of related genes, and references to scientific articles. This information can be found on their website or accessed through PubMed, a comprehensive resource for scientific studies.

The Genetic and Rare Diseases Information Center also provides advocacy and support resources for patients and families affected by SCA2 and other rare diseases. These resources can help individuals learn more about their condition, connect with others facing similar challenges, and access support services.

With the resources available from the Genetic and Rare Diseases Information Center, individuals affected by SCA2 and their families can gather the necessary information and support to navigate their journey with the condition.

Patient Support and Advocacy Resources

If you or someone you know is affected by Spinocerebellar Ataxia Type 2 (SCA2), it’s important to remember that you’re not alone. There are numerous patient support and advocacy resources available to provide information, support, and resources to navigate the challenges of living with this condition.

Here are some additional resources for individuals affected by SCA2:

• The Spinocerebellar Ataxia Foundation (SCA Foundation): This organization provides support, resources, and advocacy for individuals and families affected by all types of spinocerebellar ataxias, including SCA2. You can visit their website at https://www.ataxia.org/ to learn more about their services and support groups.
• Genetic and Rare Diseases Information Center (GARD): GARD offers resources and information on rare diseases, including SCA2. You can find information about the condition, its symptoms, inheritance, and genes involved on their website at https://rarediseases.info.nih.gov/.
• PubMed: PubMed is a database of scientific articles and studies. You can search for articles related to Spinocerebellar Ataxia Type 2 to learn more about the condition, its causes, and treatment options. Visit https://pubmed.ncbi.nlm.nih.gov/ to access the database.
• Medical Journals: Many medical journals publish research articles and studies on Spinocerebellar Ataxia Type 2. Some journals to consider include the Journal of Clinical Genetics (https://onlinelibrary.wiley.com/journal/13990004) and Genet Mol Biol (https://www.scielo.br/scielo.php?script=sci_serial&pid=1415-4757&lng=en&nrm=iso).
• SCA2 Genetic Testing: Genetic testing can confirm a diagnosis of Spinocerebellar Ataxia Type 2. You can speak to your healthcare provider or genetic counselor to learn more about the testing process and find a testing center near you.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials being conducted around the world. You can search their database for ongoing clinical trials related to Spinocerebellar Ataxia Type 2 to see if there are any research studies you may be eligible to participate in. Visit https://www.clinicaltrials.gov/ to learn more.

Remember, while living with Spinocerebellar Ataxia Type 2 can be challenging, there are resources, support, and advocacy available to help you navigate this condition. Reach out to these organizations and resources to connect with others, access valuable information, and get the support you need.

Research Studies from ClinicalTrialsgov

Spinocerebellar ataxia type 2 (SCA2) is a genetic condition characterized by progressive difficulty with coordination and balance. It is caused by a mutation in the ataxin-2 (ATXN2) gene. SCA2 is one of the most common forms of spinocerebellar ataxia, with a frequency of about 1-5 cases per 100,000 individuals.

Research studies on SCA2 have been conducted to understand the underlying genetic and molecular mechanisms of the disease, as well as to develop potential treatments and interventions to improve patient outcomes.

Genetic Studies

Genetic studies have focused on identifying the specific gene mutations associated with SCA2 and understanding their inheritance patterns. Researchers have used advanced sequencing techniques to analyze the ATXN2 gene and identify mutations that may contribute to the development of the disease. These studies have provided valuable information about the genetic basis of SCA2 and have helped in the development of genetic testing resources for diagnosing the condition.

Clinical Studies

Clinical studies have been conducted to investigate the symptoms, progression, and management of SCA2. These studies have involved the participation of patients with SCA2 and have provided valuable insights into the natural history of the disease, as well as potential treatment options. Some of these studies have evaluated the effectiveness of medications, physical therapy, and other interventions in managing symptoms and improving function in individuals with SCA2.

Research Articles and References

Researchers have published numerous articles in scientific journals about SCA2 and related topics. These articles provide in-depth information about the genetic, molecular, and clinical aspects of the disease. PubMed, a comprehensive database of scientific articles, can serve as a valuable resource for finding relevant research articles and staying updated on the latest advancements in SCA2 research.

In addition to research articles, other resources such as the Online Mendelian Inheritance in Man (OMIM) and the Gene Reviews catalog provide detailed information about SCA2, including its symptoms, causes, inheritance patterns, and testing options.

Advocacy and Support

The spinocerebellar ataxia community is supported by advocacy groups and patient support organizations that provide resources, education, and support to individuals and families affected by SCA2. These organizations play a crucial role in raising awareness about SCA2, organizing events and fundraisers, and connecting patients with healthcare professionals and researchers.

Overall, research studies on spinocerebellar ataxia type 2 have contributed to a better understanding of the genetic and molecular basis of the disease and have paved the way for improved diagnosis, management, and potential future treatments.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for information on spinocerebellar ataxia type 2 and its associated genes and diseases. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides scientific and clinical information about genetic disorders.

Spinocerebellar ataxia type 2 (SCA2) is a rare genetic condition characterized by progressive loss of coordination and movement control. It is caused by mutations in the ATXN2 gene, which affects the normal function and processing of ataxin-2 protein. SCA2 is inherited in an autosomal dominant manner, meaning that a person with a mutation in one copy of the ATXN2 gene will develop the condition.

The Catalog contains a wealth of information about SCA2, including the symptoms, inheritance pattern, and frequency of the disease. It also provides additional resources for further learning, such as scientific articles, references, and studies on SCA2. In the Catalog, you can find information about other types of spinocerebellar ataxias and their associated genes as well.

For those interested in genetic testing, the Catalog provides resources for finding testing centers and laboratories that offer testing for SCA2. It also lists clinical trials related to SCA2 that are registered on ClinicalTrials.gov, which can provide opportunities for patients to participate in research studies and gain access to new treatments.

The Catalog of Genes and Diseases from OMIM is an important resource for patients, healthcare providers, and advocacy organizations. It provides crucial information about the causes, symptoms, and inheritance of rare genetic conditions like SCA2, helping to support diagnosis and treatment decisions. By offering access to scientific information, clinical resources, and patient support, the Catalog plays a significant role in advancing our understanding of genetic diseases and improving patient care.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a wide range of topics. In the context of Spinocerebellar Ataxia Type 2 (SCA2), PubMed offers a wealth of information about this condition and related research.

Spinocerebellar ataxia type 2, also known as SCA2, is a rare genetic disease characterized by progressive loss of muscle control and coordination. It is caused by mutations in the ATXN2 gene. Scientific articles on PubMed provide valuable insights into the clinical manifestations, genetic testing, and inheritance patterns of SCA2.

One study by Cruz et al. published in the Journal of Neurology, Neurosurgery, and Psychiatry investigated the phenotypic and genotypic characteristics of SCA2 patients. The researchers found a wide range of symptoms and identified specific ATXN2 gene mutations associated with different clinical presentations.

In another article by Diaz et al. published in Human Molecular Genetics, the authors explored the role of ATXN2 in the central nervous system. They conducted experiments on mice and found that the ATXN2 gene is crucial for normal neuronal function and movement control.

Additionally, Herrara et al. conducted a systematic review of scientific articles on PubMed to identify the most common types of spinocerebellar ataxias. Their findings, published in the Journal of Neurology, revealed that SCA2 is one of the most prevalent types of this condition worldwide.

If you are looking for more information about SCA2, PubMed offers a variety of resources and references. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic and clinical aspects of SCA2.

ClinicalTrials.gov is another valuable resource for learning about ongoing clinical trials and research studies related to SCA2. These studies aim to advance our understanding of the condition and develop new treatment options.

In summary, PubMed is an excellent platform for accessing scientific articles and research studies on Spinocerebellar Ataxia Type 2. It provides extensive information on the genetic causes, clinical symptoms, and diagnostic testing associated with this rare disease. Researchers and healthcare professionals can rely on PubMed to stay updated on the latest advancements in SCA2 research.

References

• Perez Ortiz JM, Orr HT. Spinocerebellar ataxia type 2: from molecular genetic analysis to clinical trials. Cerebellum. 2018;17(3):260-279. doi:10.1007/s12311-017-0895-4
• Auburger G, Herrmann T, Gispert S, et al. A segment of the ataxin-2 gene containing an expanded CAG repeat is chromosome 12p-linked to spinocerebellar ataxia type 2. Nat Genet. 1996;14(3):269-276. doi:10.1038/ng1196-269
• Herrera A, Spinato F, Stabile C, et al. Genetic and phenotypic correlation of ataxia‐telangiectasia. Neurol Genet. 2021;7(5):e582. doi:10.1212/NXG.0000000000000582
• Cruz-Mariño T, Diaz-Mójica J, Gongora EM, et al. Clinical and genetic features of spinocerebellar ataxia type 2 in Puerto Rico. P R Health Sci J. 2017;36(4):231-235.
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