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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare genetic condition that affects coordination and muscle control. It is caused by mutations in the SACS gene, which is located on a specific region of chromosome 13. This condition is named after the Charlevoix-Saguenay region in Quebec, Canada, where it was first identified.

Individuals with ARSACS typically experience problems with walking and coordination, as well as muscle stiffness and weakness (spasticity). Symptoms usually appear in childhood and slowly progress over time, leading to significant disability in adulthood. The severity of symptoms can vary among affected individuals.

Genetic testing can confirm a diagnosis of ARSACS. As this condition is autosomal recessive, it means that both parents must carry a mutation in the SACS gene for their child to be affected. The carrier frequency of the SACS gene mutation is estimated to be 1 in 22 in the Quebec population.

Currently, there is no cure for ARSACS. Treatment focuses on managing the symptoms and providing support to affected individuals and their families. Physical therapy and assistive devices can help improve mobility and quality of life. Ongoing research and clinical trials are being conducted to further understand the condition and develop potential therapies.

For more information about ARSACS, you can visit the following resources:

By accessing these resources, you can learn more about the condition, find support, and stay informed about the latest scientific research and clinical trials.

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Frequency

The frequency of Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is not well documented, but it is considered a rare condition. The prevalence of ARSACS is highest in the Charlevoix-Saguenay region of Quebec, Canada, where the condition was first described.

Due to the genetic nature of ARSACS, the frequency of the condition may vary in different populations and regions. The incidence of ARSACS is higher in individuals with a French-Canadian ancestry.

More research and genetic testing are needed to determine the exact frequency of ARSACS and its associated genes. The study of the sacsin-related gene (SACS) is important in obtaining more information about the condition.

There are no known specific advocacy organizations or clinical trials registered on ClinicalTrials.gov for ARSACS at this time.

For additional information about the frequency and inheritance of ARSACS, you can refer to the following resources:

  • OMIM: A catalog of human genes and genetic disorders, provides detailed information about ARSACS and its associated genes.
  • PubMed: A scientific literature database, contains articles and references about ARSACS.

Causes

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. The SACS gene provides instructions for making a protein called sacsin. This protein is involved in maintaining the structure and function of nerve cells (neurons) in the brain and spinal cord.

Individuals with ARSACS have changes (mutations) in both copies of the SACS gene, one inherited from each parent. These mutations result in a reduced or absent production of functional sacsin protein, leading to the signs and symptoms of ARSACS.

The inheritance pattern of ARSACS is autosomal recessive, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The SACS gene is located on the long (q) arm of chromosome 13 in a region designated as 13q12.12. Mutations in this gene disrupt the normal function of sacsin protein, impairing the communication between nerve cells and causing the characteristic features of ARSACS.

Research is ongoing to learn more about the genetic causes of ARSACS. Studies have identified variants in other genes associated with similar conditions, such as SPG11 and SPG7. However, these genes appear to be uncommon causes of ARSACS, accounting for a small percentage of cases.

More information about the genetic causes of ARSACS can be found in the scientific literature, including articles available through PubMed and OMIM. These resources provide detailed information about specific genes, genetic variations, and associated diseases.

Learn more about the gene associated with Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare genetic condition characterized by progressive spasticity and ataxia. The condition primarily affects individuals of French-Canadian descent, particularly those from the Charlevoix-Saguenay region of Quebec.

The main gene associated with ARSACS is called “sacsin”. This gene provides instructions for making a protein that is involved in maintaining the integrity and function of nerve cells. Mutations in the sacsin gene can disrupt the normal production of the protein, leading to the symptoms of ARSACS.

To learn more about the gene associated with ARSACS, there are several resources available:

In addition to these resources, there are also advocacy organizations and support groups that provide additional information and support for individuals and families affected by ARSACS. These can be helpful for learning about the latest research, connecting with others facing similar challenges, and accessing resources and services.

See also  Beta-ketothiolase deficiency

References:

  • Therrien, M., Khadir, A., Gibson, WT., & Rouleau, GA. (2016). Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview of 20 years of research. The Canadian Journal of Neurological Sciences, 43(1), 7-16. doi:10.1017/cjn.2015.286
  • Engert, JC., Bérubé, P., Mercier, J., et al. (2000). ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nature Genetics, 24(2), 120-125. doi:10.1038/72769

By learning more about the sacsin gene and the associated condition, we can better understand the causes, inheritance patterns, and clinical features of ARSACS. This knowledge can contribute to improved diagnosis, testing, and management strategies for this rare and complex disease.

Inheritance

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is inherited in an autosomal recessive manner. This means that to have the condition, an individual must inherit a mutated gene from both parents.

ARSACS is caused by mutations in the SACS gene, which provides instructions for making a protein called sacsin. The sacsin protein is involved in maintaining the function of nerve cells, particularly those in the brain and spinal cord. Mutations in the SACS gene lead to the production of an abnormal sacsin protein, which affects the development and function of these nerve cells.

The frequency of ARSACS varies among different populations. It is most commonly found in individuals of French-Canadian descent from the Charlevoix-Saguenay region of Quebec, Canada. However, cases of ARSACS have also been reported in other populations around the world.

To diagnose ARSACS, genetic testing can be performed to identify mutations in the SACS gene. This testing can be done on a blood or saliva sample. If a mutation is identified, it can provide confirmation of the diagnosis and may help support genetic counseling and family planning decisions.

There is currently no specific treatment for ARSACS. Management involves addressing the symptoms and providing supportive care. Physical therapy, occupational therapy, and speech therapy can be helpful in managing the movement and coordination problems associated with ARSACS.

For more information about ARSACS, the genetic inheritance, and available resources, the following references may be useful:

  • OMIM: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (OMIM: #270550)
  • PubMed: Spastic Ataxia (PubMed ID: 24621498)
  • Scientific Articles: Sacsin-Related Autosomal Recessive Ataxias
  • ClinicalTrials.gov: Studies with ARSACS Patients (ClinicalTrials.gov Identifier: NCT01845072)
  • Genetics Home Reference: ARSACS
  • Rare Diseases: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  • ADVOCACY: ARSACS Support and Advocacy
  • GENES: SACS Gene
  • Catalog of Diseases: Spastic Ataxia

Other Names for This Condition

  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • ARSACS
  • Sacsin-related autosomal recessive spastic ataxia
  • Sacsin-related spastic ataxia
  • Charlevoix-Saguenay region ataxia
  • Quebec ataxia

Additional Information Resources

Additional information about the genetic causes, inheritance, and frequency of the condition can be found in the following resources:

Other resources include:

  • Scientific Articles – More articles and research studies on the genetic and clinical aspects of spastic ataxia of Charlevoix-Saguenay can be found in scientific journals and databases.
  • Genes and Diseases – Information about the associated genes and their functions can be explored on online databases like Genes and Diseases.
  • Charlevoix-Saguenay Ataxia Research Center – The center provides resources for research and support for patients and families affected by Charlevoix-Saguenay ataxia.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). By analyzing an individual’s DNA, genetic testing can identify mutations in the sacsin gene, which is associated with the condition. This information enables healthcare professionals to confirm a diagnosis and provide appropriate care for patients.

Understanding the genetics of ARSACS can also help with genetic counseling for families. Genetic testing can determine whether an individual carries a mutation in the sacsin gene, which can inform family members about their risk of having a child with the condition. It can also clarify the inheritance pattern, as ARSACS follows an autosomal recessive inheritance, meaning both parents must carry a mutated sacsin gene for a child to be affected.

There are various genetic testing resources available for ARSACS, including clinicaltrialsgov, which provides a comprehensive list of ongoing studies and clinical trials related to the condition. Another valuable resource is the National Center for Biotechnology Information (NCBI), which offers articles and scientific research about ARSACS and other related diseases.

In addition to genetic testing, there are support and advocacy organizations that can provide further information and resources. These organizations can help patients and their families connect with others who are also affected by ARSACS, learn about the latest research and clinical trials, and access support services.

When citing information about ARSACS, it is essential to include the appropriate references. The most relevant references for ARSACS include scientific articles, studies published on PubMed, and the Online Mendelian Inheritance in Man (OMIM) catalog.

To learn more about autosomal recessive spastic ataxia of Charlevoix-Saguenay and genetic testing, individuals can consult with their healthcare providers, genetic counselors, or visit trusted online resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center that provides resources and information about rare genetic diseases. One of the rare diseases that GARD focuses on is Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

ARSACS is a rare genetic condition that is characterized by spasticity and ataxia. It is estimated to affect about 1 in 2,500 individuals in the Saguenay-Lac-Saint-Jean region of Quebec, Canada, but cases have also been reported in other regions of the world.

ARSACS is caused by variations in the sacsin gene, which is located on chromosome 13. The sacsin protein plays a role in maintaining the function and structure of nerve cells, particularly those involved in muscle coordination. Mutations in the sacsin gene lead to the production of an abnormal protein, which disrupts the normal functioning of nerve cells.

See also  ASS1 gene

Common symptoms of ARSACS include progressive spasticity (stiffness) and ataxia (lack of muscle coordination), particularly in the legs. These symptoms typically appear in early childhood and worsen over time. Other features of the condition may include muscle wasting, speech difficulties, foot deformities, and vision problems.

Diagnosis of ARSACS is based on clinical features, genetic testing to identify mutations in the sacsin gene, and imaging studies to assess the structure of the brain and spinal cord. Research studies and clinical trials are ongoing to learn more about the condition and develop potential treatments.

For more information about Autosomal recessive spastic ataxia of Charlevoix-Saguenay and other rare genetic diseases, you can visit the GARD website. They provide a comprehensive catalog of articles, scientific references, and resources for patients and researchers. You can also find information about ongoing clinical trials on websites such as clinicaltrialsgov and OMIM.

Patient Support and Advocacy Resources

Patients and their families affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) can benefit from accessing various support and advocacy resources. These resources provide valuable information, additional support, and connections with other individuals dealing with this condition.

Genetic and Disease Information

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the genetic causes, clinical features, and inheritance patterns of ARSACS. Visit OMIM to learn more about the condition and its associated genes and inheritance.
  • Sacsin-Related Ataxia: The National Center for Biotechnology Information (NCBI) website offers detailed scientific articles and research studies on Sacsin-related ataxia, which is the protein affected in ARSACS. These resources can provide a deeper understanding of the condition and ongoing research in the field.

Patient Support and Advocacy Organizations

  • Charlevoix-Saguenay Ataxia Research and Support Center: This center, based in Quebec, Canada, focuses specifically on providing support, resources, and research opportunities for individuals and families affected by ARSACS. They offer information about clinical trials, genetic testing, and various support programs.

Genetic Testing and Counseling

  • Genetic Testing: Genetic testing can confirm the diagnosis of ARSACS and provide valuable information about the specific genetic mutations involved. Many laboratories offer genetic testing services for ARSACS, and your healthcare provider can guide you in obtaining this testing.
  • Genetic Counseling: Genetic counselors are professionals who can help individuals and families understand the genetic basis of ARSACS, inheritance patterns, and potential risks for future generations. They can also provide emotional support and help individuals make informed decisions about family planning and genetic testing.

Additional Resources

  • Rare Diseases Clinical Research Network: This network provides opportunities to participate in research studies and clinical trials related to rare diseases, including ARSACS. Visit their website to learn more about ongoing studies and how you can contribute to advancing scientific knowledge about the condition.
  • PubMed: PubMed is a searchable database of scientific articles and research publications. Searching for keywords like “autosomal recessive spastic ataxia of Charlevoix-Saguenay” or “ARSACS” can provide access to the latest research findings and relevant scientific studies.
  • References: The references section of scientific articles and publications on ARSACS can be a valuable resource for finding more information about the condition, its clinical features, and ongoing research. Explore the references provided in scientific articles to access additional relevant resources.

By utilizing these patient support and advocacy resources, individuals and families affected by ARSACS can learn more about the condition, access support, and connect with others facing similar challenges. Remember, you are not alone in this journey, and support is available.

Research Studies from ClinicalTrialsgov

Research studies on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay are being conducted to further understand this rare genetic condition. These studies aim to gather more information about the causes, frequency, and inheritance patterns associated with the disease.

One of the key genes associated with this condition is the SACS gene. Mutations in this gene are known to cause the production of an abnormal protein called sacsin, which leads to spastic ataxia and other neurological symptoms.

ClinicalTrials.gov is a valuable resource for patients and researchers interested in learning more about Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. This online catalog provides information about ongoing research studies, including clinical trials and other scientific articles.

Genetic testing is available for individuals suspected of having Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. These tests can help confirm the diagnosis and provide more information about the specific genetic mutation causing the condition.

For patients and their families, it is important to access support and advocacy resources. Organizations and centers specializing in genetic diseases can provide valuable information and assistance to those affected by Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Additional Information and Resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. This resource includes genetic information, scientific articles, and references for further reading.
  • PubMed: PubMed is a database of scientific articles and publications related to various medical conditions. Searching for “charlevoix-saguenay ataxia” or “sacsin gene” can provide additional scientific research on this condition.
  • Charlevoix-Saguenay Ataxia Center: The Charlevoix-Saguenay Ataxia Center, located in Quebec, Canada, specializes in the diagnosis and management of this condition. They offer genetic testing, coordination of care, and support for patients and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that supports research on various genetic disorders, including autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). OMIM provides information on inherited diseases, their associated genes, and the clinical features observed in affected individuals.

OMIM offers a wealth of information to help researchers, healthcare professionals, and patients learn more about different genetic conditions. Users can access this information through the OMIM website, where they can find details on clinical presentations, inheritance patterns, genetic testing options, and support resources.

The OMIM database contains references to scientific articles and studies that focus on the genetics and clinical features of various diseases. For ARSACS, users can find information on the SACsin gene, which is associated with this rare condition predominantly found in the French-Canadian population of Quebec.

See also  Fragile X syndrome

In addition to the SACsin gene, OMIM provides information on other genes and genetic variants that can cause ataxia, spasticity, and other related symptoms. The database also includes the frequency of these genes in different populations and references to more scientific articles for further reading.

OMIM offers resources to support genetic testing and research. It provides links to external databases such as PubMed and clinicaltrials.gov, where users can explore current research studies and clinical trials related to ARSACS and other genetic disorders. These resources can aid in understanding the underlying mechanisms of the disease and potentially lead to new treatment options in the future.

Patients and their families can benefit from OMIM’s patient advocacy resources, which provide information on support groups and organizations that focus on specific genetic conditions. These resources can help individuals connect with others who share their experiences and find support in managing the challenges that come with living with a rare genetic condition like ARSACS.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and patients seeking information on various genetic disorders, including autosomal recessive spastic ataxia of Charlevoix-Saguenay. It provides comprehensive and up-to-date information on genes, inheritance patterns, clinical features, genetic testing options, and support resources that can aid in the understanding and management of these conditions.

Scientific Articles on PubMed

Here is a curated list of scientific articles on Charlevoix-Saguenay ataxia available on PubMed. These articles provide valuable information on various aspects of the disease, such as its genetics, clinical presentation, and management.

1. “Charlevoix-Saguenay spastic ataxia: a clinicogenetic study of 15 families”

This study explores the clinical and genetic features of Charlevoix-Saguenay ataxia in 15 families from the region. It provides important insights into the inheritance pattern, frequency, and other associated causes of the disease.

2. “Sacsin-related autosomal recessive ataxia: a comprehensive review”

This comprehensive review article summarizes the current knowledge on sacsin-related autosomal recessive ataxia. It discusses the genetic basis, clinical presentation, and potential treatment options for this rare neurological disorder.

3. “Characterization of the sacsin-related ataxia neuropathology in a patient cohort”

This study focuses on the neuropathological features of sacsin-related ataxia in a cohort of patients. It describes the structural abnormalities in nerve fibers and provides insight into the underlying mechanisms of the disease.

4. “Spastic ataxia of Charlevoix-Saguenay: clinical and genetic studies”

This article presents a clinical and genetic analysis of patients with spastic ataxia of Charlevoix-Saguenay. It discusses the clinical manifestations, genetic testing, and potential therapeutic interventions for this condition.

5. “Advances in the understanding of Charlevoix-Saguenay spastic ataxia and future prospects”

This review article provides an overview of recent advances in the understanding of Charlevoix-Saguenay spastic ataxia. It discusses the role of the SACsin gene, potential treatments, and ongoing research in this field.

6. “Charlevoix-Saguenay ataxia: a case series and literature review”

This case series presents several patients with Charlevoix-Saguenay ataxia and provides a comprehensive literature review. It highlights the clinical features, diagnosis, and management strategies for this rare neurological disorder.

7. “Charlevoix-Saguenay spastic ataxia: insights from gene expression studies”

This study investigates the gene expression profiles associated with Charlevoix-Saguenay spastic ataxia. It identifies potential molecular pathways involved in the disease pathogenesis and suggests new therapeutic targets.

8. “Support and advocacy resources for patients with Charlevoix-Saguenay spastic ataxia”

This article provides information about support and advocacy resources available to patients with Charlevoix-Saguenay spastic ataxia. It includes links to patient support groups, clinical trial databases, and genetic counseling centers.

9. “Clinical trials for the treatment of autosomal recessive spastic ataxia”

This review article summarizes the ongoing clinical trials for the treatment of autosomal recessive spastic ataxia. It provides information about the current treatment options and highlights the importance of participation in clinical trials for advancing research in this field.

10. “Genetic counseling and testing for autosomal recessive spastic ataxia”

This article discusses the importance of genetic counseling and testing for individuals with autosomal recessive spastic ataxia. It provides information about available genetic testing options, inheritance patterns, and the role of genetic counseling in patient management.

References:

  1. Joubert M, et al. Charlevoix-Saguenay spastic ataxia: a clinicogenetic study of 15 families. Arch Neurol. 2001 Sep;58(9):1420-4.
  2. Ince-Dunn G, et al. Sacsin-related autosomal recessive ataxia: a comprehensive review. Cerebellum Ataxias. 2015 Dec 2;2:18.
  3. Belzil VV, et al. Characterization of the sacsin-related ataxia neuropathology in a patient cohort. Brain. 2011 Jun;134(Pt 6):1637-50.
  4. Daoud H, et al. Spastic ataxia of Charlevoix-Saguenay: clinical and genetic studies. Mov Disord. 2007 Sep 15;22(12):2123-6.
  5. Schottlaender LV, et al. Advances in the understanding of Charlevoix-Saguenay spastic ataxia and future prospects. Dev Med Child Neurol. 2013 Jun;55(6):514-20.
  6. Ilg W, et al. Charlevoix-Saguenay ataxia: a case series and literature review. Can J Neurol Sci. 2009 Jan;36(1):72-9.
  7. McClelland VM, et al. Charlevoix-Saguenay spastic ataxia: insights from gene expression studies. Neurogenetics. 2017 Jan;18(1):9-17.
  8. Support and advocacy resources for patients with Charlevoix-Saguenay spastic ataxia. Available at: [insert resource links]. Accessed [insert date].
  9. Zesiewicz TA, et al. Clinical trials for the treatment of autosomal recessive spastic ataxia. Expert Opin Investig Drugs. 2018 Nov;27(11):929-938.
  10. Genetic counseling and testing for autosomal recessive spastic ataxia. Available at: [insert resource links]. Accessed [insert date].

References

1. Online Mendelian Inheritance in Man (OMIM). 2017. Charlevoix-Saguenay spastic ataxia. [Online]. Available: https://www.omim.org/entry/270550. [Accessed: March 26, 2021].

2. Sacsin. 2013. Genetics Home Reference. [Online]. Available: https://ghr.nlm.nih.gov/gene/SACS. [Accessed: March 26, 2021].

3. Sacsin-related autosomal recessive ataxia. 2016. Genetic and Rare Diseases Information Center. [Online]. Available: https://rarediseases.info.nih.gov/diseases/6419/sacsin-related-autosomal-recessive-ataxia. [Accessed: March 26, 2021].

4. The Sacsin Protein. 2013. Spastic Paraplegia Foundation. [Online]. Available: https://sp-foundation.org/Hereditary_Spastic_Paraplegia.htm#. [Accessed: March 26, 2021].

5. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 2013. Hereditary Spastic Paraplegia Virtual Patients. [Online]. Available: https://hereditary-spastic-paraplegia.virtualpatients.eu/en/charlevoix-saguenay-spastic-ataxia.html. [Accessed: March 26, 2021].

6. Charlevoix-Saguenay spastic ataxia. 2021. National Institutes of Health: ClinicalTrials.gov. [Online]. Available: https://clinicaltrials.gov/ct2/results?cond=Charlevoix-Saguenay+spastic+ataxia&term=&cntry=&state=&city=&dist=. [Accessed: March 26, 2021].

7. Barbeau A, Cote M, Lemieux B, Lesperance P, Brais B. 2004. The gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neurology, 62(7), 1181-1182.

8. Lemay P, Dobransky T, Shalli K, Dadivas O, Leung E, Vanakker O. 2020. Novel mutation in SACS pinpoints new spastic ataxia regions. Frontiers in Neuroscience, 13, 1407.

9. Charlevoix Saguenay Ataxia. 2017. Neville W. Goodman MD Inc.. [Online]. Available: http://nevilleland.com/ataxia/. [Accessed: March 26, 2021].

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