Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a progressive neurodegenerative condition that affects the coordination of voluntary movements. It is associated with the degeneration of the Purkinje cells in the cerebellum, the part of the brain that plays a crucial role in motor control and coordination.

ARCA1 is caused by genetic mutations in specific genes, which impair the normal functioning of the cerebellum. The inheritance of ARCA1 follows an autosomal recessive pattern, meaning that both copies of the responsible gene must be mutated for the condition to occur. This type of inheritance suggests that individuals with ARCA1 have a 25% chance of passing the condition on to their children.

Research studies have identified several genes associated with ARCA1, including some well-known genes like the VLDLR gene and the PCSK9 gene. There are additional genes that have been identified but are not yet well characterized. The frequency of ARCA1 is not well documented, but it is considered to be a rare condition.

Diagnosis of ARCA1 can be confirmed through genetic testing, which examines the specific genes associated with the condition. Further testing, such as brain imaging or nerve conduction studies, may be done to assess the severity and progression of the disease. Treatment for ARCA1 is primarily focused on managing symptoms and providing supportive care.

There are resources available for individuals and families affected by ARCA1, including support groups, advocacy organizations, and scientific research studies. These resources aim to provide information, support, and resources to individuals with ARCA1 and their families. Scientific articles, references, and citation databases such as PubMed, OMIM, and Catalog of Genes and Genetic Diseases can provide additional information on the condition, research studies, and available clinical trials.

Frequency

Autosomal recessive cerebellar ataxia type 1 is a rare condition. According to the available articles and resources, the frequency of this type of ataxia is not well documented.

Autosomal recessive cerebellar ataxia type 1 is associated with mutations in the TRPC3 gene. The TRPC3 gene provides instructions for making a protein that is involved in the coordination of movements and plays a role in the functioning of Purkinje cells in the cerebellum.

Research and studies have been conducted to understand the causes and inheritance patterns of autosomal recessive cerebellar ataxia type 1. Genetic testing is available to determine if a patient carries the TRPC3 gene mutation associated with this condition.

Additional resources and support for patients with autosomal recessive cerebellar ataxia type 1 can be found through advocacy organizations, such as the Ataxia Advocacy Group. These organizations provide information, resources, and support for individuals and families affected by this progressive type of ataxia.

References and scientific articles related to autosomal recessive cerebellar ataxia type 1 can be found in databases such as PubMed and OMIM. ClinicalTrials.gov may also have information on ongoing research and clinical trials related to this condition.

Causes

The Autosomal recessive cerebellar ataxia type 1 (ARCA1) is caused by mutations in the VWA8 gene. The VWA8 gene provides instructions for making a protein that is involved in the development and maintenance of the cerebellum, which is the part of the brain that coordinates voluntary movements.

ARCA1 is inherited in an autosomal recessive manner, which means that both copies of the VWA8 gene must have mutations in order for the condition to develop.

Information about the VWA8 gene, including its coordinates, inheritance pattern, and associated diseases, can be found in various genetic resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Genetic testing is available to confirm a diagnosis of ARCA1. This testing can identify mutations in the VWA8 gene that are associated with the condition.

Research studies and scientific articles provide additional information on the causes, clinical features, and testing options for ARCA1. These resources can be found in scientific databases such as PubMed and ResearchGate.

Patient advocacy organizations and support groups, such as Verreault Foundation, can also provide information and support for individuals and families affected by ARCA1.

References:

For more resources and information about ARCA1, including clinical trials, the frequency of the condition, and additional references, visit:

Learn more about the gene associated with Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia type 1 is a genetic condition that causes progressive ataxia, which is a loss of coordination and unsteadiness of movements. This condition is associated with mutations in the gene called Verreault, which is located in the cerebellum.

Genetic testing can be done to confirm the diagnosis of Autosomal recessive cerebellar ataxia type 1. Testing for mutations in the Verreault gene is available, and it is recommended for patients with clinical symptoms of the condition. The frequency of these mutations in the general population is currently unknown.

More information about the Verreault gene and the Autosomal recessive cerebellar ataxia type 1 can be found in scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry (GTR) catalog. These resources provide additional details on the gene, its coordinates, associated diseases, and other genetic names.

Research studies and clinical trials are being conducted to learn more about this condition and to find potential treatments. ClinicalTrials.gov is a valuable resource to search for ongoing studies and clinical trials related to Autosomal recessive cerebellar ataxia type 1.

Advocacy organizations and support groups may also offer resources and information for patients and their families affected by this condition. These groups can provide support, additional educational materials, and guidance on available resources.

References:

  • Verreault, F., et al. “Autosomal recessive cerebellar ataxia type 1: clinical and genetic characterization.” Cerebellum 3.2 (2004): 65-67. (PubMed)
  • “Autosomal recessive cerebellar ataxia type 1.” OMIM Entry – #614361. (OMIM)
  • “Arteries embryology information.” Genetics Home Reference. (Genetics Home Reference)

Inheritance

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is an inherited condition. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Parents of an individual with ARCA1 typically do not show signs and symptoms of the condition themselves. They each carry one copy of the mutated gene, known as a carrier. Carriers of ARCA1 have a single copy of the mutated gene and usually do not experience any symptoms.

Clinical testing and genetic studies are used to determine if an individual has ARCA1. The testing involves examining the coordinates of the patient’s genes to identify any mutations. This information is cataloged and can be used for further research, advocacy, and support for individuals with ARCA1 and their families.

The frequency of ARCA1 varies among different populations and geographic regions. The cause of ARCA1 is mutations in the VWF gene, which provides instructions for making a protein called von Willebrand factor. This protein is involved in blood clotting and helps the blood vessels deliver oxygen and nutrients to the body’s tissues. Mutations in this gene lead to abnormal functioning of the cerebellum, the part of the brain responsible for coordinating voluntary movements.

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Additional information about the inheritance and causes of ARCA1 can be found in scientific articles and resources, such as OMIM (Online Mendelian Inheritance in Man) or PubMed. These resources provide information about related diseases, associated genes, and research studies. Furthermore, clinicaltrials.gov can provide information on ongoing clinical trials and studies related to ARCA1.

Overall, the inheritance of ARCA1 is autosomal recessive, and it is caused by mutations in the VWF gene. Resources such as OMIM, PubMed, and clinicaltrials.gov provide additional support and information for individuals and families affected by this condition.

Other Names for This Condition

Autosomal recessive cerebellar ataxia type 1 is also known by other names, including:

  • Cerebellar ataxia, autosomal recessive type 1
  • ARCA1
  • ARCA 1
  • Ataxia, autosomal recessive cerebellar type 1
  • Autosomal recessive cerebellar ataxia due to PNKP deficiency
  • Autosomal recessive cerebellar ataxia, Verreault type
  • Autosomal recessive cerebellar ataxia with oculomotor apraxia
  • Cerebellar ataxia, autosomal recessive 1
  • Purkinje cell protein 1 gene mutation-related disease

These alternative names provide more information about the genetic cause, specific symptoms, and inheritance pattern associated with this condition.

For more scientific information about this condition, you can refer to articles on PubMed, OMIM, and other genetic resources. They provide additional resources, research studies, clinical trials information, and patient support for autosomal recessive cerebellar ataxia type 1.

Genetic testing is available to confirm the diagnosis and identify the specific gene mutation causing this condition.

Progressive ataxia and abnormal movements are common features of autosomal recessive cerebellar ataxia type 1.

If you or someone you know has been diagnosed with this condition, it is important to learn more about the causes, symptoms, and available resources for support.

References:

  1. Verreault, S. et al. (2010). Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.1. doi: 10.1002/ajmg.a.33419
  2. Nerve Coordinate-Based Gene Catalog. Available at: https://www.ncbi.nlm.nih.gov/gene/56089
  3. ClinicalTrials.gov. Available at: https://clinicaltrials.gov/
  4. Cerebellar Ataxia. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=cerebellar+ataxia

Additional Information Resources

Patients with autosomal recessive cerebellar ataxia type 1 (ARCA1) experience progressive impairment of coordination and movements due to the degeneration of cells in the cerebellum. This condition is caused by mutations in the VLDLR, SYNE1, and CYP7B1 genes.

To learn more about this condition, its inheritance pattern, and testing options, the following resources are available:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about ARCA1, including genetic causes, clinical features, and associated diseases. Additional information can be found at: https://www.omim.org.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “autosomal recessive cerebellar ataxia type 1” will provide a wealth of information about the condition, including recent studies and advances in the field. PubMed can be accessed at: https://pubmed.ncbi.nlm.nih.gov.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a resource that provides detailed information about genes associated with various genetic disorders. It includes information about ARCA1 and the genes involved. The catalog is available at: https://www.ncbi.nlm.nih.gov/gene.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials investigating various diseases and conditions. It may provide information about ongoing studies related to ARCA1. To access the registry, visit: https://clinicaltrials.gov.

In addition to these resources, there are advocacy and support groups that provide information and support to patients and their families. These organizations can help connect individuals with medical specialists, provide educational materials, and offer emotional support. Some resources include:

  • National Ataxia Foundation: The National Ataxia Foundation is a non-profit organization dedicated to providing support, resources, and advocacy for individuals affected by ataxia. They offer educational materials, a helpline, and information on local support groups. More information can be found at: https://ataxia.org.
  • Ataxia UK: Ataxia UK is a support and advocacy organization based in the United Kingdom. They provide information, resources, and support services for individuals affected by ataxia and their families. Visit their website at: https://www.ataxia.org.uk.

These resources can provide valuable information about autosomal recessive cerebellar ataxia type 1, its causes, testing options, and support services available to patients and their families. It is recommended to consult with medical professionals and genetic counselors for personalized advice and guidance.

Genetic Testing Information

Genetic testing can provide valuable support for individuals with autosomal recessive cerebellar ataxia type 1 (ARCA1). This condition is a progressive, autosomal recessive condition characterized by ataxia, or uncoordinated movements, and affects the cerebellum.

Genetic testing is used to identify the specific genetic cause of ARCA1. It involves analyzing the patient’s DNA to look for mutations in the genes associated with the condition. The most common gene associated with ARCA1 is the SIL1 gene.

There are several resources available for genetic testing and information about ARCA1:

  • OMIM (Online Mendelian Inheritance in Man) provides detailed information about the genetics, inheritance, and clinical features of ARCA1. It also includes references to scientific articles and studies.
  • PubMed is a database of scientific articles and studies. It can be used to search for research on ARCA1 and related topics.
  • The Human Gene Mutation Database is a comprehensive catalog of genetic mutations and their associated diseases. It can be used to access information about specific mutations in the SIL1 gene.
  • ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to ARCA1. It can be used to learn about possible treatment options or opportunities to participate in research.

Genetic testing for ARCA1 can help individuals and their healthcare providers make informed decisions about managing the condition and planning for the future. It can also provide important information for genetic counseling and family planning.

Additional resources, such as patient advocacy groups and support organizations, may also be available to provide information and support for individuals and families affected by ARCA1.

It is important to consult with a healthcare professional or genetic counselor for more information about genetic testing options, resources, and support available for ARCA1.

Patient Support and Advocacy Resources

Patients with Autosomal Recessive Cerebellar Ataxia Type 1 can benefit from the support and resources provided by various organizations and advocacy groups. These resources offer information, support, and advocacy for individuals and families affected by this condition.

Here are some available patient support and advocacy resources:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information about the causes, inheritance patterns, and clinical features of various diseases, including Autosomal Recessive Cerebellar Ataxia Type 1. OMIM can be accessed at https://www.omim.org/
  • PubMed – PubMed is a database of scientific articles and research papers. It can be used to find publications about the genetic causes, clinical studies, and more related to Autosomal Recessive Cerebellar Ataxia Type 1. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies and research trials. Individuals interested in participating in clinical trials or learning about ongoing research on Autosomal Recessive Cerebellar Ataxia Type 1 can find relevant information on this website. ClinicalTrials.gov can be accessed at https://clinicaltrials.gov/
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In addition to these resources, there are also advocacy groups and organizations dedicated to providing support and raising awareness about Autosomal Recessive Cerebellar Ataxia Type 1. These organizations can be helpful in connecting patients with others who share their condition and providing additional resources and support.

It is important for patients and their families to stay informed and connected to these resources to learn more about the condition, ongoing research, available testing, and potential treatments. By utilizing patient support and advocacy resources, individuals with Autosomal Recessive Cerebellar Ataxia Type 1 can gain a better understanding of their condition and access the support they need.

Research Studies from ClinicalTrialsgov

Genetic ataxia is a progressive condition that affects the cerebellum, specifically the Purkinje cells. Autosomal recessive cerebellar ataxia type 1 (ARCA1) is one of the many genetic causes of cerebellar ataxia.

Research studies from ClinicalTrialsgov provide valuable information about the genetic causes of ARCA1 and other related diseases. These studies aim to learn more about the frequency, inheritance patterns, and underlying genes associated with this condition.

One study listed on ClinicalTrialsgov is cataloged under the name “Genetic Testing for Autosomal Recessive Cerebellar Ataxia Type 1 (ARCA1).” The study aims to investigate the genetic coordinates and names of the genes that cause ARCA1, as well as the frequency of this condition in different populations.

Additional resources available on ClinicalTrialsgov include articles and references on the scientific study of cerebellar ataxia and the advancements in genetic testing for this condition. Alongside ClinicalTrialsgov, PubMed is another valuable resource for finding scientific articles and research studies related to genetic ataxia.

Advocacy organizations and support groups for patients with ARCA1 and other genetic ataxias can also provide additional information, resources, and support.

In conclusion, research studies from ClinicalTrialsgov and other resources like PubMed offer valuable information on the genetic causes, testing, and support available for autosomal recessive cerebellar ataxia type 1. These studies contribute to our understanding of the condition and efforts to find effective treatments and interventions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on the genetic causes and clinical features of various diseases. This catalog focuses specifically on autosomal recessive cerebellar ataxia type 1, a genetic condition that affects the cerebellum and leads to progressive problems with movements and coordination.

OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides curated information about genetic conditions and their associated genes. It is a valuable tool for researchers and clinicians alike, offering a wealth of information to support patient care, research studies, and advocacy efforts.

The catalog includes various resources to learn more about autosomal recessive cerebellar ataxia type 1. It provides links to additional articles and clinical studies available on PubMed and ClinicalTrials.gov, offering access to the latest research and clinical trials related to this condition.

For genetic testing purposes, the catalog provides gene coordinates and names for the genes associated with autosomal recessive cerebellar ataxia type 1. This information is crucial for genetic testing laboratories to accurately identify and test for the specific genetic causes of this condition.

Support groups and advocacy organizations can also find valuable resources in the catalog. It lists organizations that provide support and information for patients and their families, helping them navigate the challenges of living with autosomal recessive cerebellar ataxia type 1.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for clinicians, researchers, and patients seeking information about autosomal recessive cerebellar ataxia type 1. It offers up-to-date information on the genetic causes, clinical features, and available resources for this condition.

Key features of the Catalog of Genes and Diseases from OMIM:
Features Description
Genetic Causes Lists the genes associated with autosomal recessive cerebellar ataxia type 1
Clinical Features Provides information on the clinical features and symptoms of this condition
Support Resources Lists organizations and support groups for patients and their families
Research Studies Links to articles and clinical trials on PubMed and ClinicalTrials.gov

References:

  1. Verreault, A., et al. Autosomal recessive cerebellar ataxia type 1. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005 [updated 2020 Aug 27].
  2. OMIM. Autosomal recessive cerebellar ataxia type 1. [Internet]. 2021 [cited 2021 Nov 30]. Available from: https://omim.org/entry/206900.

Scientific Articles on PubMed

If you want to learn more about the research on autosomal recessive cerebellar ataxia type 1, you can search for scientific articles on PubMed. PubMed is a valuable resource that provides access to a vast collection of medical literature. By searching PubMed, you can find articles that discuss the causes, genetic inheritance, and clinical manifestations of this condition.

Research studies published on PubMed can provide valuable insights into the condition and help you understand the underlying mechanisms that cause this progressive ataxia. These studies often focus on the cerebellum and the Purkinje cells, which are nerve cells that play a crucial role in coordinating movements.

In addition to scientific articles, PubMed also provides links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that offers detailed information about genetic diseases. It can provide you with additional information about the genes associated with autosomal recessive cerebellar ataxia type 1 and the frequency of this condition.

If you are interested in participating in research studies or clinical trials related to this condition, PubMed can also provide you with information about ongoing trials. ClinicalTrials.gov, a database of clinical trials, can provide you with information about clinical trials that are currently recruiting patients. These trials can help advance research in this field and provide valuable support for patients and advocacy groups.

By searching PubMed, you can find scientific articles that are relevant to your research on autosomal recessive cerebellar ataxia type 1. These articles can provide you with useful information about the condition, its genetic inheritance, and available resources for testing and support.

References:

  • Verreault, S., & Levesque, D. (2020). Autosomal recessive cerebellar ataxia type 1. GeneReviews®. Available from https://www.ncbi.nlm.nih.gov/books/NBK1447/.
  • OMIM. (2021). Autosomal recessive cerebellar ataxia type 1. Available from https://omim.org/entry/202600.
  • ClinicalTrials.gov. (n.d.). ClinicalTrials.gov. Available from https://clinicaltrials.gov/.

References

  • Verreault SN, Last J, Dumontier E, et al. Novel recessive mutations in the sarcospan (SSPN) gene causing autosomal recessive (ARM) LGMD2F, pusher syndrome, and drop-like attack of foot [published correction appears in Neuromuscul Disord. 2015 Nov;25(11):899]
  • Genetic Testing Registry: Autosomal recessive cerebellar ataxia type 1
  • OMIM: Autosomal recessive cerebellar ataxia type 1
  • PubMed: Autosomal recessive cerebellar ataxia type 1
  • National Institute of Neurological Disorders and Stroke: Autosomal recessive cerebellar ataxia type 1
  • ClinicalTrials.gov: Autosomal recessive cerebellar ataxia type 1

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