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Spinocerebellar ataxia type 1 (SCA1) is a rare genetic condition characterized by progressive problems with movement and coordination. It belongs to a group of genetic diseases known as spinocerebellar ataxias, which affect the central nervous system and primarily involve the cerebellum, a region of the brain responsible for controlling balance and coordination.

SCA1 is caused by mutations in the ATXN1 gene, which provides instructions for making a protein called ataxin-1. In people with SCA1, these mutations cause the ataxin-1 protein to take on an abnormal shape, leading to its accumulation in the cells and the development of the characteristic symptoms of the condition.

The inheritance of SCA1 follows an autosomal dominant pattern, which means that only one copy of the mutated gene is necessary for a person to develop the condition. A person with SCA1 has a 50% chance of passing the mutation on to each of their children. Genetic testing can confirm a diagnosis of SCA1 and provide important information for genetic counseling and family planning.

Although there is currently no cure for SCA1, treatment focuses on managing the symptoms and providing supportive care. Physical therapy, speech therapy, and occupational therapy can help individuals with SCA1 maintain their mobility and independence for as long as possible.

There are several resources available for individuals and families affected by SCA1, including patient advocacy organizations, research centers, and clinical trial databases. These resources provide valuable information, support, and opportunities to participate in research studies aimed at finding new treatments and improving the quality of life for individuals with SCA1.

For more scientific information about SCA1, research studies, and additional resources, interested individuals can refer to scientific publications and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

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Frequency

Spinocerebellar ataxia type 1 (SCA1) is a rare genetic condition that affects the central nervous system. It is one of the many types of spinocerebellar ataxias, which are a group of genetic disorders characterized by problems with movement and coordination.

SCA1 is associated with mutations in the ATXN1 gene, which provides instructions for making the ataxin-1 protein. These mutations cause the ataxin-1 protein to form an abnormal shape, leading to the degeneration of nerve cells in specific regions of the brain, particularly the cerebellum. This degeneration results in the atrophy of the cerebellum and the progressive loss of muscle control.

The frequency of SCA1 is relatively low compared to other genetic conditions. It is estimated to affect about 1 to 3 individuals per 100,000 people worldwide. The condition has been found in various populations and ethnic groups, with no clear gender or geographic preference.

SCA1 follows an autosomal dominant inheritance pattern, which means that a person only needs to inherit one copy of the mutated ATXN1 gene from either parent to develop the condition. The inheritance pattern also means that each child of an affected individual has a 50% chance of inheriting the mutation and developing SCA1.

There is currently no cure for SCA1, and treatment focuses on managing the symptoms and providing support to improve the quality of life for affected individuals. Research is ongoing to better understand the condition and develop potential treatments.

For more information about SCA1, additional resources can be found at scientific research centers, genetic advocacy organizations, and online catalogs of genetic conditions. Websites like PubMed, OMIM, and clinicaltrialsgov also provide references to scientific articles, studies, and clinical trials related to SCA1.

  • Scientific research centers: These centers conduct research and provide information about the genetic causes, symptoms, and function of SCA1. They may also offer genetic testing and counseling services for individuals and families.
  • Genetic advocacy organizations: These organizations offer support and resources to individuals and families affected by SCA1. They often provide educational materials, support groups, and information about clinical trials and research advancements.
  • Online catalogs of genetic conditions: These catalogs provide comprehensive information about various genetic conditions, including SCA1. They may include descriptions, genetic testing information, and resources for further learning.
  • Websites: Websites like PubMed, OMIM, and clinicaltrialsgov provide access to scientific articles, studies, and clinical trials related to SCA1. They can be valuable sources of information for researchers, healthcare professionals, and individuals seeking more knowledge about the condition.

By utilizing these resources and staying informed, individuals and families affected by SCA1 can better understand the condition, access necessary support and services, and stay up-to-date on the latest advancements in research and treatment.

Causes

Spinocerebellar ataxia type 1 (SCA1) is caused by mutations in the ATXN1 gene. These mutations can be inherited from a parent with SCA1 or can occur sporadically.

The ATXN1 gene is located on chromosome 6 and provides instructions for making a protein called ataxin-1. In healthy individuals, this protein plays a role in the normal functioning of the cerebellum, a part of the brain that is involved in coordinating movement.

When the ATXN1 gene has mutations, it leads to the production of abnormal ataxin-1 proteins. These abnormal proteins can accumulate in cells and cause damage, particularly in the cerebellum and spinal cord. This damage results in the symptoms of spinocerebellar ataxia type 1.

The inheritance pattern of SCA1 is autosomal dominant, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. Each child of an affected individual has a 50% chance of inheriting the mutation and developing SCA1 themselves.

There are several resources available to learn more about the genetic causes of spinocerebellar ataxia type 1. The OMIM database provides detailed information about the ATXN1 gene, including its location, function, and associated diseases. The NCBI Gene database also offers additional resources and references for scientific articles and research studies on this condition.

Testing and Diagnosis

A genetic test can be performed to diagnose spinocerebellar ataxia type 1. This test analyzes the ATXN1 gene for mutations associated with the condition. Genetic testing can help confirm a diagnosis and guide treatment options and management strategies.

Genetic testing for SCA1 can be done through specialized genetic testing laboratories. A healthcare provider can provide information about available testing options and help arrange for testing if necessary.

Symptoms and Clinical Trial Information

Spinocerebellar ataxia type 1 is a rare condition, and symptoms can vary widely among affected individuals. The most common symptom is ataxia, which refers to a lack of muscle coordination that can affect movement, balance, and speech. Other symptoms may include muscle stiffness, tremors, and difficulty with eye movements.

See also  F12 gene

Research studies and clinical trials are ongoing to better understand the causes, progression, and potential treatments for spinocerebellar ataxia type 1. ClinicalTrials.gov is a valuable resource for finding information about current clinical trials and research studies related to this condition. Participation in these studies can help contribute to scientific advancements and provide individuals with access to potential treatments and resources.

Support and Advocacy

For individuals with spinocerebellar ataxia type 1 and their families, support and advocacy organizations can provide valuable resources, information, and community support. These organizations can help individuals learn more about the condition, connect with others facing similar challenges, and find additional support services.

One such organization is the National Ataxia Foundation (NAF), which provides resources and support for individuals with ataxia and their families. The NAF offers educational materials, support groups, and a network of healthcare professionals who specialize in ataxia care. Additionally, the NAF advocates for research funding and raises awareness about ataxia to support advancements in diagnosis, management, and treatment of this rare condition.

References:

  • OMIM: ATXN1 gene
  • NCBI Gene: ATXN1
  • ClinicalTrials.gov
  • National Ataxia Foundation

Learn more about the gene associated with Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 is a rare genetic disorder that affects movement, coordination, and balance. It is caused by mutations in the ATXN1 gene, which provides instructions for making the ataxin-1 protein. This protein is found primarily in the brain, where it plays a role in the function and development of certain cells.

Scientific research and genetic testing have identified the ATXN1 gene as being associated with this type of ataxia. The ATXN1 gene is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides information about the gene’s function, structure, and associated diseases.

Individuals with Spinocerebellar ataxia type 1 typically experience symptoms such as unsteady gait, slurred speech, and problems with fine motor skills. These symptoms are caused by the degeneration and atrophy of neurons in the cerebellum, a region of the brain responsible for coordinating movement.

For more information about the ATXN1 gene, genetic testing, and inheritance patterns associated with Spinocerebellar ataxia type 1, resources such as the National Ataxia Foundation and the Rare Diseases Clinical Research Network can provide additional support and information. These organizations offer articles, studies, and references for individuals and families affected by this rare condition.

Research studies and clinical trials focused on understanding the causes and developing treatments for spinocerebellar ataxia type 1 are ongoing. ClinicalTrials.gov is a valuable resource for finding information on current studies and trials happening at medical centers and research institutions.

By learning more about the gene associated with Spinocerebellar ataxia type 1, individuals can gain a better understanding of the condition and access resources for support, advocacy, and treatment options. In addition, genetic testing may be available to determine the frequency of ATXN1 gene mutations within the population and help with diagnosis and management of this rare disease.

Inheritance

Spinocerebellar ataxia type 1 (SCA1) is a rare genetic condition that affects the movement and coordination of individuals. It is caused by mutations in the ATXN1 gene, which encodes for the ataxin-1 protein involved in the function of the cerebellum.

The inheritance of SCA1 follows an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to develop the condition. Each child of an affected individual has a 50% chance of inheriting the mutated gene and developing SCA1. The severity and age of onset of symptoms can vary among affected individuals, even within the same family.

Genetic testing is available to confirm the presence of ATXN1 gene mutations and diagnose SCA1. It is recommended for individuals with symptoms consistent with SCA1 or a family history of the condition.

There are several resources available to support individuals and families affected by SCA1. The Spinocerebellar Ataxia type 1 (SCA1) Center at the National Ataxia Foundation provides information, advocacy, and support for patients and their families. ClinicalTrials.gov and PubMed are also valuable sources for additional research studies and articles on SCA1.

Individuals and families can also find support through organizations such as the National Ataxia Foundation and Ataxia UK, which provide resources for emotional support, education, and guidance on managing the condition.

Overall, understanding the inheritance and genetic basis of spinocerebellar ataxia type 1 can help shape support, research, and clinical trials to develop effective treatments for this rare condition.

Other Names for This Condition

Spinocerebellar Ataxia Type 1 has several other names. Some of them include:

  • Spinocerebellar ataxia type I

  • SCA1

  • SCAI

  • Autosomal dominant spinocerebellar ataxia type 1

  • ADCA type 1

  • Ataxia, Spinocerebellar, With Axonal Neuropathy Type 1

These names are used interchangeably to refer to the same condition – Spinocerebellar Ataxia Type 1.

For more articles and information on this condition, the PubMed database is a valuable resource. It provides access to scientific studies, articles, and references related to Spinocerebellar Ataxia Type 1. OMIM (Online Mendelian Inheritance in Man) is another useful resource for learning about the genetics of this condition and associated genes. ClinicalTrials.gov is a database that provides information on clinical trials that are currently studying Spinocerebellar Ataxia Type 1.

In addition, there are advocacy and support resources available for individuals with Spinocerebellar Ataxia Type 1 and their families. These resources typically provide information on symptoms, causes, inheritance patterns, testing, and support services. They can help individuals navigate through the challenges of living with and managing this rare condition.

To learn more about Spinocerebellar ataxia type 1, the Ataxia Center at the University of Maryland offers a variety of resources and information. They have a patient information catalog that provides valuable resources and publications on this condition. The National Ataxia Foundation is another organization that provides support, information, and resources for individuals with Spinocerebellar Ataxia Type 1 and other types of ataxia.

In conclusion, Spinocerebellar Ataxia Type 1 is a rare genetic condition associated with movement and coordination difficulties. It is caused by mutations in the ATXN1 gene, which leads to the degeneration and atrophy of the central nervous system, particularly the cerebellum. Spinocerebellar Ataxia Type 1 may also be associated with additional symptoms and complications, depending on the individual.

Additional Information Resources

Spinocerebellar ataxia type 1 (SCA1) is a rare genetic condition characterized by the degeneration of certain parts of the brain, particularly the spinocerebellar region. This degeneration results in the progressive loss of coordination and movement control, leading to ataxia.

If you are looking for more information about SCA1, the following resources may be helpful:

  • National Ataxia Foundation: This organization provides support and resources for individuals affected by ataxia and their families. Their website offers information on SCA1, including symptoms, causes, and inheritance patterns. Visit their website here to learn more.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database includes detailed information on SCA1, including genetic mutations, associated proteins, and current research studies. Access their database here.
  • ClinicalTrials.gov: This website provides a searchable database of ongoing clinical trials for various diseases and conditions, including SCA1. You can find information on current research studies, potential treatments, and how to participate. Search for SCA1 clinical trials here.
  • PubMed: PubMed is a scientific database that contains a wealth of research articles and studies on various medical conditions. Searching for “spinocerebellar ataxia type 1” or “SCA1” on PubMed can provide you with more in-depth information on the condition. Access PubMed here.
See also  SLC45A2 gene

In addition to these resources, it is always recommended to consult with healthcare professionals and genetic counselors who specialize in SCA1. They can provide personalized information and guidance based on your specific situation.

Genetic Testing Information

Genetic testing for Spinocerebellar Ataxia Type 1 (SCA1) can provide valuable information for individuals and healthcare professionals. This type of testing can help confirm a diagnosis and determine the specific genetic mutation involved.

There are several resources available for genetic testing of SCA1. One such resource is the GeneTests catalog, which provides information on the different testing options available for this condition. The GeneTests catalog can be accessed online and provides details on the laboratories that offer testing for SCA1.

Additionally, the National Center for Biotechnology Information (NCBI) provides a comprehensive database called OMIM (Online Mendelian Inheritance in Man) that contains information on genes, their associated diseases, and any known mutations. This database can be a valuable tool for researchers and healthcare professionals looking for more information on SCA1.

In terms of support and advocacy, there are organizations dedicated to supporting individuals and families affected by SCA1. These organizations provide resources, support groups, and information on the latest research and clinical trials. Some examples include the Spinocerebellar Ataxia Association (SCAA) and the National Ataxia Foundation (NAF).

ClinicalTrials.gov is another valuable resource for individuals with SCA1. This website provides information on ongoing clinical trials and research studies related to SCA1 and other rare diseases. Individuals can search for trials that are currently enrolling participants and learn more about the testing and treatment options available.

It is important to note that genetic testing for SCA1 is typically recommended for individuals who display symptoms of the condition or have a family history of SCA1. However, it is always best to consult with a healthcare professional to determine if testing is appropriate for each individual case.

In conclusion, genetic testing can provide important information for individuals with Spinocerebellar Ataxia Type 1. There are resources available for testing, support, and advocacy, as well as databases and clinical trials that can provide additional information and potential treatment options for this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about Spinocerebellar ataxia type 1, a genetic condition characterized by progressive degeneration and atrophy of the central nervous system. This condition affects the coordination of movement and can cause a wide range of symptoms.

Spinocerebellar ataxia type 1 is caused by mutations in the ATXN1 gene, which provides instructions for making a protein called ataxin-1. These mutations result in the production of an abnormally shaped ataxin-1 protein, which can accumulate in cells and disrupt normal cellular function.

The inheritance pattern of spinocerebellar ataxia type 1 is autosomal dominant, which means that a person with one copy of the mutated gene in each cell is affected. In some cases, an affected person inherits the mutated gene from one affected parent. In other cases, the mutation occurs for the first time in an individual with no family history of the condition.

Symptoms of spinocerebellar ataxia type 1 typically appear between the ages of 30 and 40, although they can begin at any time from infancy to late adulthood. Common symptoms include difficulty with coordination and balance, speech problems, involuntary eye movements, muscle rigidity, and a staggering gait.

Diagnosis of spinocerebellar ataxia type 1 is usually based on the presence of characteristic symptoms and a genetic test that detects mutations in the ATXN1 gene. Additional testing, such as brain imaging or neurological examinations, may be done to support the diagnosis.

There is currently no cure for spinocerebellar ataxia type 1 and treatment focuses on managing symptoms. Supportive care, including physical therapy, speech therapy, and assistive devices, can help improve quality of life for affected individuals.

Research on spinocerebellar ataxia type 1 is ongoing, with studies investigating the underlying causes and potential treatments. Clinical trials may be available for eligible individuals through clinicaltrialsgov.

For more information about spinocerebellar ataxia type 1, you can visit the following resources:

  • Genetic and Rare Diseases Information Center – A comprehensive source of information on rare diseases, including spinocerebellar ataxia type 1.
  • National Ataxia Foundation – An advocacy and support organization for individuals with ataxia and their families.
  • OMIM – A catalog of human genes and genetic disorders, including spinocerebellar ataxia type 1.
  • PubMed – A database of scientific articles on various topics, including spinocerebellar ataxia type 1.

These resources can provide additional information and support to individuals and families affected by this condition.

Patient Support and Advocacy Resources

Individuals with Spinocerebellar Ataxia type 1 (SCA1) and their families can benefit from a variety of patient support and advocacy resources. These resources provide information, support, and connections to research and medical centers specializing in ataxia and related conditions.

Genetic Testing and Counseling:

  • The Center for Genetic Testing and Research offers genetic testing and counseling services for individuals who suspect they may have SCA1 or have a family history of the condition. Genetic testing can identify the specific mutations in the ATXN1 gene associated with SCA1.

Information and Education:

  • The Spinocerebellar Ataxia Information Page on the National Institute of Neurological Disorders and Stroke website provides comprehensive information about SCA1, including causes, symptoms, and treatment options.
  • The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the ATXN1 gene and the associated SCA1 condition.
  • PubMed and other scientific research databases contain articles and studies about SCA1, including information about the frequency of the condition and potential treatment options.

Patient Support Groups:

  • The Ataxia Support Group is a community of individuals living with ataxia and their families. The group provides emotional support, information, and resources for individuals affected by SCA1 and other types of ataxia.
  • The National Ataxia Foundation (NAF) is a nonprofit organization dedicated to supporting individuals with ataxia and their families. NAF offers educational resources, advocacy efforts, and fundraising events to support research on ataxia and improve the lives of those affected.

Clinical Trials and Research Studies:

  • ClinicalTrials.gov is a comprehensive database of clinical trials and research studies. Individuals with SCA1 may find information about ongoing studies and potentially participate in research aimed at finding new treatments or improving the understanding of the condition.
See also  PLCB4 gene

Additional Resources:

  • The National Organization for Rare Disorders (NORD) provides information and resources for individuals with rare diseases like SCA1. NORD offers support services, advocacy efforts, and links to specialized centers and medical experts.
  • The International Ataxia Research Center (IARC) is a nonprofit organization dedicated to advancing scientific research on ataxia. The center offers educational resources, research funding opportunities, and conferences to promote collaboration among scientists, clinicians, and patients.

By accessing these patient support and advocacy resources, individuals with SCA1 and their families can learn more about the condition, connect with others facing similar challenges, and access additional support and information.

Research Studies from ClinicalTrialsgov

Research studies on Spinocerebellar ataxia type 1 (SCA1) are crucial for advancing our understanding of this rare genetic condition. These studies aim to investigate the causes, symptoms, and progression of SCA1, as well as explore potential interventions and treatments.

Genetic testing is an important component of SCA1 research, as it helps identify individuals with the specific gene mutations associated with the condition. By studying the genes and proteins involved, scientists can learn more about the function and dysfunction of these genes and proteins in SCA1.

ClinicalTrialsgov provides a valuable repository of information on ongoing research studies related to SCA1. The database includes references to scientific articles, clinical trials, and other resources that support research and advocacy for individuals with SCA1.

Some of the key topics explored in these studies include:

  • The frequency and inheritance patterns of SCA1
  • The segment of the gene responsible for the disease
  • The symptoms and progression of SCA1
  • The relationship between SCA1 and other movement disorders

By examining the genetic mutations underlying SCA1, researchers hope to develop better diagnostic tools and treatment options for affected individuals. These studies also aim to improve our understanding of the underlying mechanisms of this condition, which can potentially benefit individuals with other related diseases.

For more information on SCA1 and related resources, individuals can visit the Online Mendelian Inheritance in Man (OMIM) database, as well as the PubMed catalog of scientific articles. These resources provide additional support and information for patients, families, and healthcare professionals.

Catalog of Genes and Diseases from OMIM

The OMIM, or Online Mendelian Inheritance in Man, catalog provides information about genes and diseases related to various medical conditions. One such condition is Spinocerebellar Ataxia Type 1. This rare genetic disorder affects the central nervous system, leading to impaired coordination, balance, and movement.

Spinocerebellar Ataxia Type 1, also known as SCA1, is caused by mutations in the ATXN1 gene. This gene provides instructions for making proteins involved in the normal function of the cerebellum, a part of the brain responsible for coordinating movement.

The symptoms of Spinocerebellar Ataxia Type 1 can vary in frequency and severity among affected individuals. Common symptoms include poor coordination and balance, slurred speech, difficulty swallowing, muscle stiffness, and tremors. As the condition progresses, individuals may experience muscle wasting and atrophy.

Additional information about Spinocerebellar Ataxia Type 1 can be found in scientific articles, genetic testing resources, and advocacy organizations. The OMIM catalog has references to these resources, providing a comprehensive overview of the condition and related research.

OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals interested in learning more about rare genetic diseases like Spinocerebellar Ataxia Type 1. The catalog also includes information about clinical trials related to these conditions, offering support and potential treatment options for affected individuals.

OMIM Entry Gene Disease
SCA1 ATXN1 Spinocerebellar Ataxia 1

OMIM provides a centralized resource for accessing information on genetic disorders and their associated genes. Through their catalog, individuals can find information about the inheritance patterns, symptoms, and testing options for various diseases. OMIM also supports research studies and advocacy efforts aimed at advancing our understanding of these conditions and improving patient care.

For more information on Spinocerebellar Ataxia Type 1 and other related diseases, visit the OMIM website or refer to the references provided on this topic.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about spinocerebellar ataxia type 1 (SCA1). SCA1 is a rare genetic condition that affects the movement and coordination of affected individuals. It is typically associated with mutations in the ATXN1 gene.

PubMed is a widely used resource for scientific research. It contains a vast collection of articles on various topics, including rare diseases like SCA1. Researchers and healthcare professionals can find studies, clinical trials, and other relevant information on this platform.

Studies on SCA1 have been conducted to learn more about this condition, its symptoms, genetics, and inheritance patterns. These articles provide valuable insights into the causes and progression of SCA1, as well as potential treatment options and management strategies.

The OMIM (Online Mendelian Inheritance in Man) database is another useful resource for information about SCA1. It provides detailed information about the genes, proteins, and inheritance patterns associated with this condition.

In addition to scientific articles, advocacy organizations and support groups play an important role in providing resources and support to individuals and families affected by SCA1. These organizations can provide information about the latest research, treatment options, and support for patients and their families.

Spinocerebellar ataxia type 1 is characterized by progressive atrophy and loss of function in the cerebellum and other central nervous system regions. The condition leads to a variety of symptoms, including impaired movement coordination, difficulty speaking, and problems with balance.

Research on SCA1 and other spinocerebellar ataxias is ongoing, aiming to better understand the underlying mechanisms of the disease and develop targeted therapies. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and research studies related to SCA1.

For more information about spinocerebellar ataxia type 1 and related genetic diseases, individuals and healthcare professionals can refer to scientific articles on PubMed, the OMIM database, and other reputable sources.

References:

  • Luckenbaugh DA, Wang JC, Bustamante AC, Aigner DJ, Buthmann J, Clendenning BJ, Campbell RE. Genetic spinocerebellar ataxias. Genet Med. 2020 Jun 25.
  • Teixeira-Castro A, Silvério-Machado R, Turchetto-Zolet AC, Jagielska A, Folladori L, Silva-Fernandes A, Duarte-Silva S, Oliveira P, Änkö ML, Gama-Carvalho M, Kugler S, Hayden MR. SCA1 transcriptome: identification of SCA1-dependent alterations in splicing and expression of a brain-specific SCA1 isoform. Hum Mol Genet. 2016 May 15;25(10):1892-906.
  • Andrade IC, Nóbrega-Pereira S, Cunha-Oliveira T, et al. Neurotoxicity of mutant ataxin-3 in the brain is not exacerbated by concurrent partial depletion of endogenous ataxin-3. Neurobiol Dis. 2016;95:58-68.

References

  • About Spinocerebellar Ataxia Type 1. (n.d.). Retrieved from National Organization for Rare Disorders website: https://rarediseases.org/rare-diseases/spinocerebellar-ataxia-type-1/
  • Spinocerebellar Ataxia Information Page. (n.d.) Retrieved from National Institute of Neurological Disorders and Stroke website: https://www.ninds.nih.gov/Disorders/All-Disorders/Spinocerebellar-Ataxia-Information-Page
  • Clinicaltrials.gov. (n.d.). Retrieved from U.S. National Library of Medicine website: https://www.clinicaltrials.gov/
  • Spinocerebellar ataxia type 1. (2018). Retrieved from OMIM website: https://www.omim.org/entry/164400
  • Genetics Home Reference. (n.d.). Retrieved from U.S. National Library of Medicine website: https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1
  • Spinocerebellar Ataxias. (n.d.). Retrieved from National Ataxia Foundation website: https://ataxia.org/what-is-ataxia/types-of-ataxia/spinocerebellar-ataxias/

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