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Spinocerebellar ataxia type 36, also known as SCA36, is a genetic condition that affects the central nervous system. It is caused by an expansion of a string of DNA, specifically the repetition of a sequence of the nucleotides GGCCTG. This expansion is found in the NOP56 gene, which plays a role in the production of proteins involved in the function of glutamate receptors. These receptors are important for the normal functioning of the brain and are also associated with other diseases such as Alzheimer’s and Parkinson’s.

SCA36 is typically characterized by atrophy of the cerebellum and other parts of the brain, leading to problems with movement and coordination. Patients with SCA36 may also experience hearing and vision problems. The frequency of SCA36 is relatively low compared to other forms of spinocerebellar ataxia, and it is more commonly found in specific populations, such as those of Japanese descent.

Further research on SCA36 is still ongoing, and scientists are trying to understand the exact causes of this condition. Various clinical and scientific studies have been conducted to learn more about SCA36 and provide support for affected individuals and their families. Additional information and resources can be found in scientific databases such as PubMed and OMIM, as well as in clinical trial registries like ClinicalTrials.gov. These references offer valuable information to scientists, healthcare professionals, and patients seeking to learn more about the condition and potential treatment options.

Frequency

Spinocerebellar ataxia type 36 (SCA36) is a rare genetic condition. The exact frequency of SCA36 in the general population is unknown, but it has been reported in various populations and ethnic groups.

According to scientific studies and clinical trials, SCA36 is typically caused by the expansion of a DNA repeat sequence in the NOP56 gene. This expansion leads to the production of abnormal proteins that affect the function of nerve cells in the central nervous system.

SCA36 is inherited in an autosomal dominant manner, meaning that a person with an affected parent has a 50% chance of inheriting the condition. The expanded repeat sequence in the NOP56 gene is typically passed down from generation to generation.

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There is limited information available about the frequency of SCA36. However, it is believed to be a relatively rare condition compared to other forms of spinocerebellar ataxia.

Additional research and scientific studies are needed to better understand the frequency and inheritance of SCA36. These studies would contribute to the development of diagnostic testing, treatment options, and potential therapies for individuals with SCA36.

For more information about SCA36, including clinical trials and research studies, you can visit websites like ClinicalTrials.gov, PubMed, and OMIM (Online Mendelian Inheritance in Man). These resources provide valuable information on the frequency, causes, symptoms, and associated genes of SCA36.

In conclusion, although the exact frequency of SCA36 is not well understood, it is considered a rare genetic condition. Further research and scientific studies are necessary to learn more about the prevalence and characteristics of SCA36.

Causes

Spinocerebellar ataxia type 36 (SCA36) is a genetic disorder caused by a specific mutation in the NOP56 gene. This gene provides instructions for making a protein that is involved in the normal production and function of other proteins within cells. When the NOP56 gene is mutated, it can lead to the production of abnormal proteins and the central nervous system, such as the cerebellum, which controls movement and coordination.

The specific mutation in the NOP56 gene that causes SCA36 is an expansion of a string of repeating DNA building blocks called GGCCTG. This expanded repeat can lead to the abnormal production of proteins and contribute to the degeneration and atrophy of certain brain cells, including those in the cerebellum.

Inheritance of SCA36 follows an autosomal dominant pattern, which means that a person with a mutated NOP56 gene has a 50% chance of passing on the condition to each of their children. SCA36 is a rare condition, and the frequency of the mutation varies among different populations.

Other genes and factors may also contribute to the development of SCA36, as well as the severity and progression of symptoms. Further scientific studies and research are ongoing to learn more about the causes and underlying mechanisms of this condition.

Learn more about the gene associated with Spinocerebellar ataxia type 36

Spinocerebellar ataxia type 36 (SCA36) is a rare genetic condition that affects the nervous system. It is caused by a mutation in the gene NOP56, also known as NOP56 ribonucleoprotein. This gene plays a crucial role in the production and support of RNA, which is involved in protein synthesis.

Scientific studies have shown that the NOP56 gene is associated with various diseases and conditions, including hearing problems, atrophy of the cerebellum, and glutamate receptors. The gene is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, providing valuable information about its function and associated clinical features.

The frequency of SCA36 is relatively low, and it is more commonly found in certain populations, such as the Japanese. Genetic testing can be done to confirm the presence of the mutation in patients suspected of having SCA36. Additional studies are still ongoing to learn more about the gene’s role and contribution to the condition.

See also  SRD5A3 gene

Research on the NOP56 gene and SCA36 has provided significant insights into the causes and underlying mechanism of the disease. It is believed that the expansion of a specific DNA sequence, known as GGCCTG, within the gene contributes to the development of SCA36. This expansion alters the normal function of the NOP56 gene, leading to the onset of symptoms associated with spinocerebellar ataxia.

For patients and their families seeking more information and support, various resources are available. ClinicalTrials.gov provides a comprehensive list of ongoing clinical trials and studies related to spinocerebellar ataxia type 36. In addition, articles and references are regularly published in scientific journals, offering further insights and updates on the condition and its associated genes.

Learning about the gene associated with SCA36, such as NOP56, can help researchers and scientists develop new therapies and treatments for affected individuals. Increased understanding of the gene’s function and its role in the disease may lead to targeted interventions and improved patient outcomes.

Inheritance

Spinocerebellar ataxia type 36 (SCA36) is an autosomal dominant neurodegenerative disorder. This means that the condition is inherited in families, with affected individuals having a 50% chance of passing the disease-causing mutation to each of their children.

SCA36 is typically caused by a mutation in the NOP56 gene. This gene provides instructions for making a protein involved in the normal function of cells. When this gene is mutated, the production of the NOP56 protein is affected, leading to the development of ataxia and cerebellar atrophy.

There are other types of spinocerebellar ataxias, each associated with specific genes. Genetic testing can help determine the specific gene mutation responsible for an individual’s ataxia. Clinical and genetic testing resources, such as OMIM and clinicaltrialsgov, provide additional information about SCA36 and other related diseases.

Research studies have also been conducted to learn more about the genetic causes of SCA36. For example, studies have identified the repeat expansion of the GGCCTG string within the NOP56 gene as the genetic alteration that causes SCA36. These studies also suggest that the frequency of this repeat expansion may contribute to the clinical features observed in affected individuals.

In addition, scientific articles and references from scientific publications such as PubMed provide further insight into the inheritance and genetic mechanisms of SCA36.

A better understanding of the inheritance pattern and genetic causes of SCA36 can contribute to the development of potential treatments and support for affected individuals and their families. Advocacy organizations and support groups also play a role in providing information and resources for patients with SCA36 and their caregivers.

Individuals with SCA36 may experience a variety of clinical problems, including ataxia, hearing problems, and central glutamate receptor sensitivity. These symptoms may vary in severity and onset time, making the condition challenging to manage. Therefore, it is important to gather and disseminate knowledge about SCA36 to facilitate better clinical care and support for affected individuals.

Overall, understanding the inheritance, genetic causes, and clinical features of SCA36 is crucial for scientific research, medical professionals, and advocacy groups to provide effective support and treatment options for patients.

Other Names for This Condition

Spinocerebellar ataxia type 36 (SCA36) is also known by several other names:

  • SCA36
  • Spinocerebellar ataxia, type 36
  • SCAR8 (Spinocerebellar Ataxia Redmond Type 8)

These names are all used to refer to the same condition, which is a genetic disorder that affects the central nervous system.

SCA36 is caused by an expansion of a repeating string of genetic code, specifically the DNA sequence GGCCTG. This expansion leads to the production of abnormal proteins called NOP56, which have been shown to contribute to the atrophy of certain brain regions, including the cerebellum.

Research suggests that the abnormal proteins produced in SCA36 may interfere with normal cellular processes, including the function of certain receptors for the neurotransmitter glutamate. This disruption can lead to problems with movement, coordination, and other neurological symptoms typically associated with ataxia.

While the exact frequency of SCA36 is not known, it is considered to be a rare condition. It is inherited in an autosomal dominant pattern, meaning that a person with the condition has a 50% chance of passing it on to each of their children.

Testing for SCA36 can be done through genetic testing, which looks for mutations in the NOP56 gene. Additional scientific resources and advocacy organizations, such as OMIM and clinicaltrialsgov, provide more information on SCA36 and related diseases.

Additional Information Resources

For more information about Spinocerebellar ataxia type 36 and related diseases, the following resources may be helpful:

  • Scientific Articles: Scientific articles contribute to the production of knowledge and provide in-depth information on the clinical aspects, genetics, and associated proteins of Spinocerebellar ataxia type 36. PubMed and OMIM are online databases that offer access to a vast collection of scientific articles.
  • Clinical Trials: Clinical trials provide valuable information on the causes, symptoms, and potential treatments for Spinocerebellar ataxia type 36. ClinicalTrials.gov is a comprehensive database that lists ongoing and completed clinical trials related to this condition.
  • Genetic Resources: Genetic resources, such as the NCBI Gene database, can provide information on the genes responsible for Spinocerebellar ataxia type 36. These resources can help researchers and clinicians better understand the function of these genes and their role in disease development.
  • Support and Advocacy Organizations: Support and advocacy organizations play a crucial role in providing resources and support to individuals and families affected by Spinocerebellar ataxia type 36. These organizations offer a range of services, including educational materials, support groups, and research funding.
  • Catalog of Genetic Diseases: A catalog of genetic diseases, such as the Online Mendelian Inheritance in Man (OMIM) database, provides detailed information on the inheritance patterns, frequency, and clinical features of Spinocerebellar ataxia type 36.
  • Expansion of Repeats: Spinocerebellar ataxia type 36 is caused by an expansion of repeated DNA sequences within the NOP56 gene. Understanding the underlying mechanisms of repeat expansion is crucial for further research and potential therapeutic interventions.
  • Glutamate Receptors: Studies have shown that glutamate receptors play a role in the development of central nervous system disorders, including Spinocerebellar ataxia type 36. Investigating the impact of glutamate receptors on the disease may provide valuable insights for future treatment strategies.
See also  Cushing disease

These resources provide a wealth of information about Spinocerebellar ataxia type 36 and related conditions. They can help healthcare professionals, researchers, and individuals affected by the condition to learn more and stay up to date with the latest advancements in the field.

Genetic Testing Information

Spinocerebellar ataxia type 36 (SCA36) is a genetic condition caused by the expansion of a string of nucleotides in a gene called NOP56. This expansion in the NOP56 gene leads to the production of abnormal proteins that cause damage to the central nervous system, particularly the cerebellum and spinal cord. SCA36 is typically associated with symptoms such as progressive atrophy of the cerebellum, impaired muscle coordination, and hearing loss.

To confirm a diagnosis of SCA36, genetic testing is typically recommended. This involves analyzing the DNA of the patient to detect the expansion in the NOP56 gene. Genetic testing can also be used to identify carriers of the condition and provide information on inheritance patterns.

Several resources are available to learn more about genetic testing for SCA36. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genes and inheritance patterns associated with SCA36. Scientific articles and studies published on PubMed also offer additional information on the genetic causes and clinical characteristics of SCA36.

In addition to genetic testing, clinical studies and research on SCA36 are ongoing to better understand the condition and explore potential treatment options. ClinicalTrials.gov provides information on current clinical trials and research studies related to SCA36, which may offer support and treatment options for patients.

Genetic testing for SCA36 not only helps in confirming a diagnosis but also provides valuable information for patient management and family planning. Understanding the genetic basis of SCA36 can help healthcare professionals develop personalized treatment plans and provide appropriate support to patients and their families.

References:

  • Ikeda Y. (2014). Spinocerebellar ataxia type 36. GeneReviews®. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK258955/
  • Spinocerebellar Ataxia Type 36. (n.d.). In Genetics Home Reference. Retrieved from: https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36#resources
  • Spinocerebellar Ataxia Type 36. (n.d.). In OMIM. Retrieved from: https://omim.org/entry/614153

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by Spinocerebellar Ataxia Type 36 (SCA36). These resources provide valuable information, support, and assistance in managing the condition.

  • Spinocerebellar Ataxia Patient Page: The Spinocerebellar Ataxia Patient Page, hosted by the National Institute of Neurological Disorders and Stroke (NINDS), offers comprehensive information about SCA36, including its causes, symptoms, and treatment options. It also provides links to scientific articles, clinical studies, and additional resources for further learning.
  • OMIM Catalog of Human Genes and Genetic Disorders: The OMIM catalog is a comprehensive database that provides detailed information about various genetic diseases, including SCA36. It includes references, clinical descriptions, and links to relevant scientific studies and articles. This resource can be particularly helpful in understanding the genetic inheritance and frequency of the condition.
  • SCA36 Patient Support Organizations: Several organizations, such as the Ataxia UK and the National Ataxia Foundation, offer support and resources specifically tailored to individuals with ataxia, including SCA36. These organizations provide educational materials, support groups, and financial assistance for patients and their families.
  • Genetic Testing and Counseling: Genetic testing can help individuals determine if they carry the expanded repeat within the NOP56 gene associated with SCA36. Genetic counselors can provide guidance and interpretation of test results, as well as advice on family planning and inheritance considerations.

It is important for patients and their families to connect with these resources to gain a better understanding of SCA36, its associated problems, and available support options. By learning more about the condition and connecting with support networks, individuals can better navigate the challenges and manage the symptoms commonly experienced.

Research Studies from ClinicalTrials.gov

Spinocerebellar ataxia type 36 (SCA36) is a genetic condition associated with the expansion of a repeat of DNA called “ggcctg” within a gene called NOP56. This expansion leads to the production of abnormal proteins that can cause problems with the function of nerve cells, resulting in the characteristic symptoms of ataxia (loss of coordination and balance) and cerebellar atrophy (degeneration of the cerebellum, a central part of the brain responsible for motor control).

Research studies have been conducted to learn more about the cause and inheritance of SCA36, as well as its associated symptoms and progression. Through these studies, scientists have identified additional genes and genetic mutations that can contribute to the development of the condition.

One study published in PubMed provides information about the frequency and clinical characteristics of SCA36 in a Japanese population. The study found that the ggcctg expansion in the NOP56 gene is a common genetic cause of spinocerebellar ataxia in Japan.

Another study investigated the association of hearing loss with SCA36. The researchers found that hearing problems were common among patients with SCA36, suggesting that the condition may affect not only the cerebellum but also other parts of the central nervous system, including the auditory system.

These research studies and others provide important scientific information about SCA36 and its underlying genetic and molecular mechanisms. They also support the development of diagnostic testing and potential treatments for the condition.

For more information about SCA36 and related research studies, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), which provides a catalog of genetic diseases and their associated genes, as well as ClinicalTrials.gov, which provides a database of clinical research studies.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing information about the inheritance, clinical features, genetic testing, and scientific studies related to various genetic conditions. In the context of spinocerebellar ataxia type 36, OMIM contains valuable information that has been researched and compiled over time.

See also  HCFC1 gene

Spinocerebellar ataxia type 36 (SCA36) is a genetic condition characterized by the progressive degeneration and atrophy of the central nervous system, particularly affecting the cerebellum. The condition has been linked to an expansion of the DNA repeat sequence called GGCCTG within the NOP56 gene.

Patient information about the clinical features and inheritance of SCA36 can be found in OMIM, including information about problems with coordination and balance, hearing impairment, and other associated symptoms. Research articles and scientific studies related to SCA36 can also be accessed through references provided by OMIM, facilitating further understanding of the condition.

OMIM provides additional information on other genetic conditions and genes associated with spinocerebellar ataxia, as well as resources for genetic testing and advocacy support. The catalog also includes information on the frequency of genetic mutations and inheritance patterns in different populations.

Studies have shown that the expansion of the GGCCTG repeat sequence in the NOP56 gene disrupts the production and function of certain proteins involved in glutamate receptors. Glutamate is a neurotransmitter that plays a crucial role in the communication between nerve cells in the central nervous system. The impaired function of these proteins contributes to the development and progression of SCA36.

OMIM allows users to search for specific genes and diseases, providing summaries of the current scientific knowledge on the topic. The catalog organizes the information in a user-friendly manner, using tables and lists to present essential findings. References to scientific articles and studies are also provided, enabling users to delve deeper into the scientific literature to learn more about the condition.

In summary, OMIM is a valuable resource for learning about spinocerebellar ataxia type 36 and other genetic diseases. It offers a comprehensive catalog of genetic conditions, genes, and scientific information, serving as a vital tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for scientific articles on Spinocerebellar ataxia type 36 (SCA36). It provides a catalog of publications from various sources, including research articles, clinical trials, and more. Within PubMed, you can find studies related to the clinical features, genetic inheritance, and associated genes of SCA36. Additionally, there are articles on the expansion of GGCCTG repeat within NOP56 gene and its role in the production of abnormal proteins. These proteins have been found to contribute to the degeneration of the central nervous system, leading to the characteristic problems seen in SCA36 patients.

The frequency of SCA36 is low, but PubMed provides information on the condition’s prevalence and incidence. This includes articles discussing the normal function of glutamate receptors and their association with the pathogenesis of SCA36. Moreover, PubMed provides access to scientific studies highlighting the role of glutamate receptors in the degeneration of cerebellar and brainstem neurons, leading to atrophy.

In addition to scientific articles, PubMed also offers resources for patient support and advocacy, such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains information about SCA36, including its genetic causes, clinical features, and inheritance patterns.

Furthermore, PubMed provides references for clinical trials, research studies, and other publications that further our understanding of SCA36. These studies may involve testing new therapies, identifying potential biomarkers, and learning about the natural history of the disease.

References

  • Ikeda Y. et al. (2016). Spinocerebellar Ataxia Type 36. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK425744/
  • Scientific articles on Spinocerebellar ataxia type 36. PubMed search. Accessed on [insert date] from https://pubmed.ncbi.nlm.nih.gov/

References

  • Inheritance: Spinocerebellar ataxia type 36 (SCA36) is inherited in an autosomal dominant manner. It means that an affected person has a 50% chance of passing the disorder to each of their children. (source: OMIM)
  • Frequency: The frequency of SCA36 is unknown, but it is considered a rare condition. (source: OMIM)
  • Testing: The diagnosis of SCA36 can be confirmed through genetic testing. A molecular genetic test can detect the abnormal expansion of the GGCCTG repeat in NOP56 gene, which is the main cause of this condition. (source: OMIM)
  • Expansion of GGCCTG repeat: Studies have shown that the abnormal expansion of the GGCCTG repeat in the NOP56 gene leads to the production of toxic proteins, which contribute to the degeneration of neurons in the cerebellum and other areas of the brain. (source: PubMed)
  • Clinical features: Spinocerebellar ataxia type 36 is characterized by progressive ataxia (lack of voluntary coordination of muscle movements), hearing loss, and retinal degeneration. Some affected individuals may also experience muscle weakness and problems with balance. (source: OMIM)
  • Support resources: For additional information about spinocerebellar ataxia type 36, genetic testing, and support resources, you can visit the following websites:
    • OMIM: The Online Mendelian Inheritance in Man catalog provides detailed scientific information about the condition. (website: omim.org)
    • National Ataxia Foundation: This organization offers support and resources for individuals and families affected by spinocerebellar ataxia and other related diseases. (website: ataxia.org)
    • PubMed: You can find scientific articles and research papers about SCA36 on the PubMed database. (website: pubmed.gov)
    • ClinicalTrials.gov: This website provides information about ongoing clinical trials that aim to study the causes, symptoms, and potential treatments for spinocerebellar ataxia type 36. (website: clinicaltrials.gov)
  • Function of the NOP56 gene: The NOP56 gene provides instructions for making a protein that is involved in the processing of RNA molecules, which play a vital role in protein production. The abnormal expansion of the GGCCTG repeat disrupts the function of the NOP56 gene, leading to the production of toxic proteins. (source: OMIM)

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