CLN8 disease – Austra Health

CLN8 disease is a rare genetic condition that falls under the category of diseases called ceroid lipofuscinoses (CLNs). There are many different forms of CLNs, each associated with certain signs and symptoms. CLN8 disease is thought to occur due to mutations in the CLN8 gene.

Individuals with CLN8 disease may experience a loss of muscle tone, epilepsy, and a decrease in consciousness levels. This condition is often diagnosed through genetic testing, which can identify mutations in the CLN8 gene. Additional information about CLN8 disease can be found on the CLN8 Disease page on the Genetic and Rare Diseases Information Center (GARD) website.

ClinicalTrials.gov provides information on ongoing studies and clinical trials related to CLN8 disease. This resource can help individuals and families learn more about current research and potential treatment options. Information about CLN8 disease can also be found on PubMed, a database of scientific articles.

The CLN8 Advocacy & Support Group provides support and resources for individuals and families affected by CLN8 disease. They offer materials, additional information, and links to other organizations and support groups. Northern California Nonprofit that work to help fund research and bring treatment options closer to those affected.

Frequency

CLN8 disease is a rare genetic disorder that affects the ceroid lipofuscinosis (NCL) group of diseases. These diseases are characterized by the accumulation of lipopigments in cells and tissues throughout the body. CLN8 disease occurs with a frequency of approximately 1 in 150,000 to 1 in 200,000 individuals.

CLN8 disease is thought to be inherited in an autosomal recessive manner, which means that both copies of the CLN8 gene must be mutated in order for the disease to occur. Mutations in the CLN8 gene can lead to a deficiency in CLN8 protein levels, which in turn affects the function of cells and leads to the signs and symptoms of the disease.

Individuals with CLN8 disease may experience a variety of symptoms, including epilepsy, muscle stiffness and weakness, vision problems, and cognitive decline. The onset and severity of these symptoms can vary among affected individuals.

Currently, there is no cure for CLN8 disease. Treatment options aim to manage the symptoms and improve the quality of life for patients. Additional research and clinical trials are ongoing to better understand the disease and develop potential therapies.

For more information about CLN8 disease, genetic testing, and associated support resources, please refer to the following references:

Northern California Lysosomal Storage Disease Center: nclsd.weebly.com/cln8.html
OMIM: CLN8 disease: www.omim.org/entry/600143
PubMed: CLN8 disease articles: pubmed.ncbi.nlm.nih.gov/?term=CLN8+disease

Causes

CLN8 disease is a rare genetic condition that is caused by mutations in the CLN8 gene. The CLN8 gene provides instructions for making a protein that is involved in the functioning of cells. When mutations occur in the CLN8 gene, it can lead to a loss of function in the protein, which can affect various cellular processes.

Research on the causes of CLN8 disease is still ongoing, but it is thought that the condition has an autosomal recessive inheritance pattern. This means that both copies of the CLN8 gene must be mutated in order for the disease to occur. Individuals who inherit one mutated copy of the gene are carriers and do not typically show signs or symptoms of the condition.

CLN8 disease is one of a group of disorders collectively known as neuronal ceroid lipofuscinoses (NCLs). These diseases are characterized by the excessive buildup of certain proteins and lipids in the cells of the brain and other tissues. The buildup of these materials can lead to the degeneration and death of cells, particularly in the brain and muscle tissues.

Studies have shown that individuals with CLN8 disease may also experience epilepsy, cognitive impairment, vision loss, and muscle problems. The exact mechanisms behind how mutations in the CLN8 gene lead to these symptoms are still being investigated.

Scientific research and genetic testing have played a crucial role in understanding the causes and characteristics of CLN8 disease. Resources such as PubMed and Online Mendelian Inheritance in Man (OMIM) provide access to research articles, genetic information, and more about this rare condition. ClinicalTrials.gov is another valuable resource for individuals and families to find information on ongoing research studies and clinical trials for CLN8 disease.

Advocacy organizations, such as the CLN8 Disease Center, also provide support and resources for individuals and families affected by CLN8 disease. These organizations can help connect individuals with support groups, clinical trials, and other important information.

In conclusion, CLN8 disease is a rare genetic condition caused by mutations in the CLN8 gene. Ongoing research is focused on understanding the mechanisms behind the symptoms associated with this disease, and genetic testing plays a crucial role in diagnosis and understanding the inheritance patterns of CLN8 disease.

Learn more about the gene associated with CLN8 disease

CLN8 disease is a rare genetic condition that is characterized by the loss of certain genes in cells. This condition is part of a group of diseases known as the neuronal ceroid lipofuscinoses (NCLs), which collectively cause a decline in neurological function.

The CLN8 gene, which is associated with CLN8 disease, plays a crucial role in the maintenance and protection of nerve cells. Mutations in this gene lead to a dysfunction in the production and transport of proteins within cells, resulting in the build-up of toxic materials. This build-up eventually leads to the death of nerve cells and the gradual decline of neurological function.

CLN8 disease predominantly affects the northern European population, with a higher frequency of occurrence in certain countries. It is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene, one from each parent.

The signs and symptoms associated with CLN8 disease can vary from person to person, but may include epilepsy, muscle weakness, vision loss, and a decline in cognitive function. The onset of symptoms typically occurs in childhood, but the severity and progression of the disease can vary.

Research on CLN8 disease and the CLN8 gene is ongoing. Scientists are studying the genetic and cellular mechanisms underlying the condition, as well as potential treatment options. Clinical trials are listed on ClinicalTrials.gov, and scientific articles and references can be found on PubMed and OMIM.

Genetic testing is available for CLN8 disease and can help confirm a diagnosis. This testing involves analyzing an individual’s DNA for mutations in the CLN8 gene. A genetic counselor or healthcare provider can provide more information on this process and the resources available for support and advocacy.

As CLN8 disease is a rare condition, it is important for individuals and families affected by this condition to connect with support networks and organizations that specialize in rare diseases. These resources can provide additional information, assistance, and emotional support for those living with CLN8 disease.

CLN8 disease and other forms of NCLs are complex conditions that require further research and understanding. By learning more about the gene associated with CLN8 disease, scientists and researchers can work towards developing effective treatments and improving the quality of life for individuals living with this condition.

Inheritance

CLN8 disease is a rare genetic disorder caused by mutations in the CLN8 gene. This gene is responsible for the production of a protein that plays a crucial role in the normal functioning of cells, particularly in the brain and muscles.

CLN8 disease is inherited in an autosomal recessive manner, which means that individuals with the condition inherit two copies of the mutated CLN8 gene, one from each parent. Carriers of only one mutated copy of the CLN8 gene do not typically show signs or symptoms of the disease.

The CLN8 gene is located on chromosome 8 and codes for a protein involved in the transport and processing of certain proteins within cells. Mutations in the CLN8 gene lead to a loss of function, resulting in the accumulation of certain molecules in cells, particularly in neurons. This accumulation eventually leads to the progressive degeneration and death of these cells, which is a hallmark of CLN8 disease.

In addition to CLN8 disease, mutations in the CLN8 gene have also been associated with other forms of neuronal ceroid lipofuscinosis (NCL), a group of rare genetic disorders characterized by the buildup of lipopigments in cells.

To learn more about the inheritance pattern, genetic testing, and clinical manifestations of CLN8 disease and other NCLs, the National Center for Advancing Translational Sciences (NCATS) offers valuable resources. They provide a catalog of more than 80 articles, research studies, and clinical trials on CLN8 disease and related conditions. Interested individuals can find additional information on the NCATS website, PubMed, and ClinicalTrials.gov.

Other Names for This Condition

CLN8 disease is known by several other names, including:

CLN8-related neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
NCL8
Epilepsy, progressive with mental retardation
EPMR
Epilepsy, progressive myoclonic 4, with or without intracellular inclusions

This rare genetic condition is associated with loss of consciousness, epilepsy, and mental retardation. It is caused by mutations in the CLN8 gene, which leads to the accumulation of lipopigments in cells. The exact role of CLN8 in the disease is still not fully understood, but scientific studies have shown that it plays a critical role in maintaining the levels of certain proteins in cells.

CLN8 disease is inherited in an autosomal recessive pattern, meaning that both copies of the CLN8 gene in an individual must be mutated to develop the condition. It occurs more frequently in certain populations, particularly among individuals of Finnish, Pakistani, and Turkish origin.

More information about CLN8 disease can be found on the following resources:

National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center: CLN8
Online Mendelian Inheritance in Man (OMIM) catalog: CLN8
PubMed: Publications on CLN8 disease
ClinicalTrials.gov: CLN8 disease clinical trials

These references can provide additional support, information, and research articles about the condition, genetic testing, and advocacy for individuals with CLN8 disease and other rare diseases collectively.

Additional Information Resources

Here is a list of additional resources that provide more information and support for individuals and families affected by CLN8 disease:

Scientific Research and Studies: You can learn more about CLN8 disease by accessing scientific research articles and studies. PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog are excellent resources for finding articles and genetic information related to CLN8 disease.
Genetic Testing: For individuals who are interested in testing for CLN8 disease or other rare genetic conditions, there are many genetic testing centers that can provide more information and support. You can find more information about genetic testing centers on websites such as clinicaltrialsgov.
Patient Support and Advocacy: Support groups and advocacy organizations can provide valuable resources and community for individuals and families affected by CLN8 disease. These groups can offer emotional support, information about available treatments, and help in navigating the challenges associated with the condition. CLN8 disease advocacy organizations can be found through online searches and by reaching out to patient support groups.
Additional Information and Materials: Various websites and online platforms provide additional information and materials related to CLN8 disease. These resources can include educational materials, research updates, and information about available clinical trials. Checking websites like clinicaltrialsgov, CLN8 disease-specific websites, and online forums can provide more information on this rare condition.

Genetic Testing Information

Genetic diseases are conditions that occur due to changes or mutations in a person’s genes. These mutations can cause a loss or alteration of certain proteins in the body. CLN8 disease, also known as Northern epilepsy or Northern epilepsy amnesia, is one of the rare diseases collectively known as the neuronal ceroid lipofuscinoses (NCLs).

Genetic testing plays an essential role in identifying and diagnosing CLN8 disease. By analyzing a patient’s DNA, scientists can determine if they have mutations in the CLN8 gene, which is associated with this condition. This genetic testing can often be done through research studies, clinical trials, or by using commercially available genetic testing materials.

Patients and their families can benefit from genetic testing by providing important information about the disease. This information includes the frequency of CLN8 disease in the population, the inheritance pattern, and additional resources for support and advocacy.

Further scientific research on the CLN8 gene and its role in NCLs is continually being conducted. Publications and articles available on PubMed and OMIM provide more information about the gene and associated diseases.

Individuals with CLN8 disease often exhibit signs and symptoms such as epilepsy, loss of muscle coordination, and altered levels of consciousness. Genetic testing can help confirm the diagnosis and provide valuable information for treatment and management.

It is important to note that genetic testing for CLN8 disease and other NCLs may not be available in all clinical settings. However, information about ongoing research studies, clinical trials, and other resources can be found on websites such as ClinicalTrials.gov and catalogs of genetic testing materials.

By learning more about the genes associated with CLN8 disease and other rare conditions, we can support scientific research and improve the diagnosis, treatment, and quality of life for individuals affected by these diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource that provides information on various genetic and rare diseases, including CLN8 disease. GARD offers a wide range of information on the genetic causes, clinical signs, inheritance patterns, and frequency of these rare diseases.

One key aspect of CLN8 disease is its genetic basis. The disease is caused by mutations in the CLN8 gene, which provides instructions for the production of proteins involved in the maintenance and function of cells. These mutations lead to the loss of function and abnormal levels of these proteins, ultimately resulting in the development of the disease.

CLN8 disease is characterized by a range of symptoms, including epilepsy, muscle weakness, and progressive loss of motor skills and cognitive abilities. The severity and age of onset can vary, but in general, individuals with the condition experience a gradual decline in consciousness and overall functioning.

GARD offers additional information on CLN8 disease, including scientific articles, research studies, and resources for patient support and advocacy. These resources can provide more in-depth information about the disease, its genetic basis, clinical trials, and available treatment options.

For those seeking more information on CLN8 disease, GARD recommends exploring resources such as PubMed, OMIM, and ClinicalTrials.gov. These databases offer a wealth of information on various genetic and rare diseases and can be invaluable sources of knowledge for patients, caregivers, and healthcare professionals.

In conclusion, CLN8 disease is a rare genetic condition that affects the function of cells and leads to a range of symptoms, including epilepsy and progressive loss of motor and cognitive abilities. GARD and other resources offer comprehensive information and support for individuals and families affected by this rare disease.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with CLN8 disease or is seeking support and advocacy resources for rare genetic diseases, there are several organizations and websites that can provide valuable information and support.

1. National CLN8 Disease Foundation: The National CLN8 Disease Foundation aims to support individuals and families affected by CLN8 disease. Their website provides resources, research information, and links to clinical trials related to CLN8 disease. Visit their website at www.cln8.org.

2. ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials around the world. By searching for “CLN8 disease” or related keywords, you can find information on current clinical trials that may be recruiting participants. Visit their website at clinicaltrials.gov.

3. Online Support Communities: Connecting with other individuals and families affected by CLN8 disease can provide emotional support and a sense of community. Online platforms such as patient forums and social media groups dedicated to rare genetic diseases can be a valuable resource for sharing experiences and finding support.

4. Rare Disease Advocacy Organizations: There are several national and international organizations that advocate for individuals with rare genetic diseases. These organizations often provide educational materials, research updates, and support services for individuals and families. Some examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for research on CLN8 disease, a rare genetic condition. The website provides information on ongoing clinical trials, research studies, and additional resources related to this condition. It offers a comprehensive catalog of studies that focus on genes, cells, and proteins associated with CLN8 disease.

Many studies available on ClinicalTrials.gov focus on specific aspects of CLN8 disease, such as the causes, symptoms, and treatment options. These studies collectively aim to improve the understanding and management of this rare condition. Researchers often collaborate with patients, advocacy groups, and other scientific institutions to conduct these studies.

One area of research is the role of CLN8 gene mutations in the development of CLN8 disease. Studies investigate how these mutations affect cells and lead to the loss of certain proteins, causing neurological symptoms and cognitive decline.
Other studies focus on the frequency and characteristics of CLN8 disease in certain populations, particularly in Northern countries. These studies provide valuable epidemiological data and raise awareness about the condition in healthcare communities.
ClinicalTrials.gov also offers information on genetic testing for CLN8 disease. These studies aim to improve diagnostic methods and provide reliable and accessible testing for individuals suspected of having the condition.
Some studies examine the association between CLN8 disease and other diseases, such as epilepsy and muscle disorders. Understanding these associations can shed light on the underlying mechanisms of CLN8 disease and potentially lead to new therapeutic approaches.
Research studies on ClinicalTrials.gov often provide additional information and references to scientific articles and resources related to CLN8 disease. These materials support researchers, clinicians, and patients in their efforts to learn more about the condition and its management.

In conclusion, ClinicalTrials.gov is a valuable platform for accessing research studies and information about CLN8 disease. Researchers, healthcare professionals, and individuals affected by this condition can benefit from the resources available on the website, which contribute to the understanding and treatment of this rare genetic disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive scientific resource that provides information about a wide range of genetic diseases. It is an invaluable tool for researchers, healthcare professionals, and individuals looking for information about rare diseases.

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs information about the genetic basis of human diseases. It provides detailed information on the genetic causes, inheritance patterns, and clinical manifestations of various diseases.

One of the diseases included in the catalog is CLN8 disease, which is a rare genetic disorder that affects the cells of the brain and other tissues. It is characterized by the progressive loss of muscle coordination, seizures, and a decline in cognitive abilities.

The catalog provides information about the genes that are associated with CLN8 disease, as well as other diseases. It provides detailed descriptions of the genetic mutations and the role of the affected genes in the disease development.

In addition to providing information about the genes and diseases, the catalog also includes references to scientific articles and resources for further research. It provides links to relevant articles on PubMed and clinical trials on ClinicalTrials.gov.

The catalog is particularly useful for patients and their families who are looking for additional information about their condition. It provides information about the signs and symptoms of the disease, the frequency of its occurrence, and the available testing and treatment options.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic diseases. It provides comprehensive information about the genetic basis of diseases, their clinical manifestations, and the available research and support resources.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to CLN8 disease. Here are some key references and studies that provide important information about this rare genetic condition:

Materials and methods for studying CLN8 disease: Several scientific articles describe the materials and methods used in research studies focusing on CLN8 disease. These studies provide insights into the experimental techniques and approaches used to investigate this condition.
Genetic causes of CLN8 disease: Numerous studies have identified specific genes and proteins that are associated with CLN8 disease. Understanding the genetic basis of this condition is crucial for advancing research and developing targeted therapies.
Clinical manifestations of CLN8 disease: Clinical trials and case studies published on sites like clinicaltrialsgov and OMIM provide important information about the signs and symptoms of CLN8 disease. These resources help healthcare professionals and researchers understand the diverse clinical presentations of this condition.
Epilepsy and CLN8 disease: It has been reported in scientific articles that epilepsy is a common feature of CLN8 disease. Understanding the relationship between epilepsy and CLN8 disease can help guide clinical management and treatment strategies for affected individuals.
Support and advocacy for CLN8 disease: Scientific articles also highlight the role of patient support and advocacy organizations in raising awareness about CLN8 disease and providing resources for affected individuals and their families. These organizations play a crucial role in supporting patients and promoting research.
Other conditions associated with CLN8 disease: Some scientific articles discuss the association between CLN8 disease and other neurological or muscle-related conditions. These comorbidities can impact the clinical course and treatment options for individuals with CLN8 disease.
Research on CLN8 disease: PubMed contains a wealth of research articles focusing on various aspects of CLN8 disease. These studies investigate different aspects of the disease, including its molecular mechanisms, cellular consequences, and potential therapeutic interventions.
Frequency and inheritance of CLN8 disease: Scientific articles provide information about the frequency of CLN8 disease in different populations and the inheritance patterns observed in affected families. This information is crucial for genetic counseling and understanding the epidemiology of the disease.

In conclusion, PubMed offers a comprehensive collection of scientific articles on CLN8 disease. These articles provide valuable insights into the genetic, clinical, and research aspects of this rare condition. Researchers, healthcare professionals, and individuals affected by CLN8 disease can benefit greatly from the information available on PubMed.

References

1. CLN8 disease. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/cln8-disease

2. CLN8 patient information. (n.d.). NCLs (CLN8) Patient Information. Retrieved from https://www.nclstreatmentcenter.org/ncl-diseases/cln8/

3. CLN8 disease articles and information. (n.d.). Beyond Batten Disease Foundation. Retrieved from https://beyondbatten.org/research-articles/cln8/

4. CLN8 advocacy and awareness. (n.d.). CLN8 Advocate Kit. Retrieved from https://www.cln8advocacy.com/

5. CLN8 disease clinical trials. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=cln8+disease&term=&cntry=&state=&city=&dist=

6. Advances in understanding the role of CLN8 in epilepsy and other diseases. (2019). OMIM. Retrieved from https://www.omim.org/entry/605394

7. CLN8-associated NCL. (2021). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/21840883/

8. Additional resources on CLN8 disease. (n.d.). NCL Resource Center. Retrieved from https://nclresource.org/cln8/

9. CLN8 disease and muscle cell loss. (n.d.). Beyond Batten Disease Foundation. Retrieved from https://beyondbatten.org/research-articles/cln8-muscle-cell/

10. CLN8 disease genetic testing and genes. (n.d.). GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK425689/