CLN6 disease – Austra Health

CLN6 disease is a rare and functional disorder that affects the central nervous system. It is also known by other names such as Batten disease and neuronal ceroid lipofuscinosis. According to OMIM, an online catalog of human genes and genetic disorders, CLN6 disease is caused by mutations in the CLN6 gene.

Children with CLN6 disease experience a progressive loss of neurological functions, starting from early childhood. This condition is characterized by the accumulation of lipopigments, known as lysosomes, within cells. The build-up of these substances collectively leads to the death of cells in the central nervous system.

There is limited scientific research and information available on CLN6 disease. However, studies and articles throughout PubMed provide some insight into the causes, symptoms, and management of this condition. Scientific advocacy and support groups provide free resources for patients and families affected by CLN6 disease. Genetic testing and clinical trials are available for those who are interested in participating or seeking more information.

Inheritance of CLN6 disease follows an autosomal recessive pattern, meaning that both parents must carry a mutation in the CLN6 gene for their child to develop the condition. Additional resources and references on CLN6 disease can be found on websites such as the National Center for Advancing Translational Sciences (NCATS) and the Genetic and Rare Diseases Information Center (GARD).

Frequency

CLN6 disease is a rare condition that occurs in individuals throughout the world. It is one of a group of diseases known as Neuronal Ceroid Lipofuscinoses (NCLs), which are genetic disorders characterized by the accumulation of substances in lysosomes, leading to the death of cells in the central nervous system.

The frequency of CLN6 disease is currently unknown, but it is considered to be a rare genetic disorder. According to the National Institutes of Health’s Genetic and Rare Diseases Information Center, the prevalence of NCLs as a group is estimated to be 1 in 100,000 to 1 in 1,000,000 individuals.

CLN6 disease has an autosomal recessive inheritance pattern, meaning that both copies of the CLN6 gene must be mutated for an individual to develop the condition. If both parents are carriers of the mutated gene, each of their children has a 25% chance of inheriting two copies of the mutated gene and developing CLN6 disease.

There are resources available for patients and families affected by CLN6 disease. The Online Mendelian Inheritance in Man (OMIM) database provides information about the genetic causes of diseases, including CLN6 disease. The National Institutes of Health’s ClinicalTrials.gov website lists ongoing clinical trials and research studies related to CLN6 disease. Additionally, advocacy organizations such as the Batten Disease Support and Research Association (BDSRA) provide support and information for individuals and families affected by NCLs.

Scientific research studies and articles about CLN6 disease can be found in PubMed, a free online database of scientific publications. The database can be searched using keywords such as “CLN6 disease” or “Neuronal Ceroid Lipofuscinoses” to find relevant information. The catalog of the National Center for Biotechnology Information (NCBI) contains additional resources and references related to CLN6 disease.

In summary, CLN6 disease is a rare genetic disorder with an unknown frequency. It is one of the Neuronal Ceroid Lipofuscinoses (NCLs) that occur worldwide. Patients and families affected by CLN6 disease can find support, information, and resources from various organizations and databases.

Causes

The CLN6 disease is caused by genetic mutations in the CLN6 gene. This gene provides instructions for producing a protein that helps regulate the function of lysosomes, which are structures within cells that break down substances and recycle cellular components. When the CLN6 gene is mutated, the protein it produces is either absent or non-functional, leading to a buildup of waste materials in lysosomes.

These accumulated substances interfere with the normal functioning of cells, particularly in the central nervous system. Over time, the progressive buildup of waste materials in lysosomes causes the death of cells, leading to the characteristic symptoms of CLN6 disease.

The mutations in the CLN6 gene can be inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. Carriers of a single mutated copy of the gene generally do not show any symptoms of the disease.

Research on CLN6 disease and other lysosomal storage disorders is ongoing, with the aim of understanding the underlying genetic and cellular mechanisms, developing potential treatments, and improving the care and support available for affected individuals and their families.

For more detailed information about the causes of CLN6 disease, additional scientific articles and studies can be found in resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the CLN6 Disease Advocacy and Resource Center.

Learn more about the gene associated with CLN6 disease

CLN6 disease is a rare childhood condition that causes the loss of functional genes associated with CLN6. This condition is part of a group of diseases collectively known as Neuronal Ceroid Lipofuscinoses (NCLs), which are genetic disorders that affect the central nervous system.

The CLN6 gene provides instructions for making a protein that plays a crucial role in the normal function of lysosomes, which are responsible for breaking down and recycling substances within cells. When the CLN6 gene is mutated, the resulting protein is unable to perform its normal function, leading to the accumulation of toxic substances in cells and ultimately leading to cell death.

Studies have shown that CLN6 disease is inherited in an autosomal recessive pattern, meaning that individuals must inherit two mutated copies of the CLN6 gene, one from each parent, in order to develop the condition. Genetic testing can be done to identify mutations in the CLN6 gene, and this testing is typically available through commercial laboratories or research centers.

More information about CLN6 disease and the associated gene can be found in scientific articles on the National Institutes of Health’s PubMed database or in the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional references and up-to-date information on research studies, clinical trials, and patient advocacy organizations that focus on genetic diseases and conditions.

For those interested in participating in clinical trials related to CLN6 disease, information can be found on the clinicaltrials.gov website. This site provides details about current and upcoming clinical trials, as well as information on eligibility criteria and how to contact the researchers conducting the trials.

Support and resources for individuals and families affected by CLN6 disease can be obtained through patient advocacy organizations such as the CLN6 Center of Excellence or the Williams Syndrome Association. These organizations offer support groups, educational materials, and other resources to help individuals and families navigate the challenges associated with living with a rare genetic condition.

In summary, the CLN6 gene is associated with CLN6 disease, a rare childhood condition that causes the loss of functional genes and results in the accumulation of toxic substances in cells. Genetic testing, research studies, and patient advocacy organizations provide valuable support and information for individuals and families affected by this condition.

Inheritance

CLN6 disease is a rare genetic condition that belongs to a group of diseases called neuronal ceroid lipofuscinoses (NCLs). These diseases are collectively known as Batten disease. CLN6 disease is characterized by the loss of cells in the central nervous system, leading to the progressive deterioration of neurological functions.

The inheritance pattern of CLN6 disease is autosomal recessive, which means that both copies of the CLN6 gene must have a mutation for the disease to occur. Individuals with only one mutated copy of the gene are carriers and are usually unaffected by the condition.

CLN6 disease is associated with mutations in the CLN6 gene. These mutations disrupt the normal function of the CLN6 protein, which is involved in the transport and processing of substances in lysosomes – special compartments within cells that break down waste materials. Due to the malfunctioning of lysosomes, harmful substances accumulate within cells, leading to their degeneration and eventual cell death.

The frequency of CLN6 disease is very rare, and there is limited information available about its prevalence. It predominantly affects children, with symptoms often appearing between ages 1 and 10. The clinical presentation of the disease can vary, but common symptoms include loss of vision, seizures, cognitive decline, and motor impairments.

Diagnosis of CLN6 disease is usually confirmed through genetic testing, which detects mutations in the CLN6 gene. Additional testing, such as brain imaging and nerve function studies, may be performed to assess the severity of the condition and rule out other diseases.

Other Names for This Condition

CLN6 disease
NCLS
Ceroid lipofuscinosis, neuronal, 6
Neuronal ceroid-lipofuscinosis 6
Neuronal ceroid-lipofuscinosis type 6
late infantile neuronal ceroid lipofuscinosis 6
late-infantile neuronal ceroid lipofuscinosis 6
CLN6-defective moyamoya-like vascular changes with retinal arteriolar tortuosity
Ceroid lipofuscinosis neuronal 6 gene
MDDGC6
variantof a variantof neuronal ceroid lipofuscinosis 8,

Additional Information Resources

About CLN6 Disease:

CLN6 disease is a rare neurological disorder that affects the central nervous system. It is one of the forms of Neuronal Ceroid Lipofuscinosis (NCLs), also known as Batten disease. CLN6 disease occurs due to mutations in the CLN6 gene.
For more information about CLN6 disease and its inheritance patterns, the OMIM database provides detailed information on the genetic cause, clinical features, and inheritance of this condition. OMIM entry for CLN6 disease: https://www.omim.org/entry/601780

Support and Advocacy:

For support and advocacy resources for CLN6 disease, there are several organizations that provide assistance and information to individuals and families affected by rare genetic diseases. They can offer support networks, educational materials, and access to clinical trials and research opportunities. Some of these organizations include:

CLN6 Advocacy & Support Network	https://www.cln6support.com/
Batten Disease Support and Research Association (BDSRA)	https://www.bdsra.org/
Global Genes	https://globalgenes.org/

Additional Information and Research:

For more scientific articles and studies related to CLN6 disease, you can search the PubMed database. PubMed is a free resource that provides access to a vast collection of biomedical literature. PubMed search results for CLN6 disease: https://pubmed.ncbi.nlm.nih.gov/?term=CLN6+disease
To learn more about ongoing research and potential clinical trials for CLN6 disease, you can visit the ClinicalTrials.gov website. ClinicalTrials.gov is a database of clinical studies and trials conducted worldwide. ClinicalTrials.gov search results for CLN6 disease: https://clinicaltrials.gov/ct2/results?term=CLN6+disease

Genetic Testing and Diagnosis:

For information about genetic testing and diagnosis of CLN6 disease, you can consult a specialized genetics center or laboratory. They can provide guidance on the available testing options and help interpret the results. Some genetic testing centers that offer testing for CLN6 disease and other rare genetic conditions include:

The Williams Syndrome Clinic and Research Center	https://williams-syndrome.org/research/clinic
The Lysosomal Diseases Testing Laboratory	https://www.ardais.net/lysosomal-disease-testing-laboratory.html

Related Diseases and Resources:

CLN6 disease is a part of a group of disorders known as Neuronal Ceroid Lipofuscinoses (NCLs) or Batten disease. There are various other forms of NCLs, each associated with different genes and proteins. To learn more about these related diseases and access relevant resources, you can refer to the following websites and catalogs:

The NCL Resource	https://nclresource.org/
The NCL Catalog	https://www.ucl.ac.uk/ncl-resource/catalogue

Additionally, the OMIM database provides detailed information on various NCLs and related disorders. OMIM entry on Neuronal Ceroid Lipofuscinosis: https://www.omim.org/entry/256730

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of CLN6 disease. It helps in identifying specific genetic mutations that cause the disease and provides valuable information for patients, families, and healthcare professionals.

Here are some key points about genetic testing for CLN6 disease:

Genetic Testing Centers: There are various genetic testing centers that specialize in identifying genetic mutations associated with CLN6 disease. These centers have the necessary expertise and resources to conduct these tests accurately.
Death of Nerve Cells: CLN6 disease is a rare, inherited childhood disease characterized by the death of cells in the central nervous system. Genetic testing helps in understanding the underlying causes of this condition and aids in developing targeted treatments.
Information and Support: Genetic testing provides essential information about the disease, its inheritance pattern, and the potential risk of passing it on to future generations. It also offers support to affected individuals and their families, helping them make informed decisions about family planning, medical care, and support services.
Genetic Testing Resources: There are several resources available for patients and healthcare professionals interested in genetic testing for CLN6 disease. ClinicalTrials.gov, OMIM, PubMed, and other scientific databases provide information on ongoing studies, genetic names, publications, and research articles related to CLN6 disease.
Lysosomal Storage Disorders: CLN6 disease belongs to a group of rare genetic disorders called lysosomal storage disorders. These disorders are characterized by the accumulation of substances in lysosomes, leading to the malfunctioning of cells and tissues.
Inheritance and Frequency: CLN6 disease follows an autosomal recessive inheritance pattern, meaning that individuals need to inherit two abnormal copies of the CLN6 gene to develop the condition. The frequency of CLN6 disease is relatively low, and it occurs more frequently in certain populations.
Genetic Testing Process: The genetic testing process involves analyzing a sample of DNA to identify specific mutations in the CLN6 gene. This analysis can be performed using various techniques, such as sequencing and genetic panels. It is typically conducted in specialized laboratories by trained geneticists.
Functional Studies: In addition to genetic testing, functional studies can be conducted to further understand the effects of specific CLN6 gene mutations on cellular processes. These studies help researchers and healthcare professionals develop targeted therapies and explore potential treatment options for CLN6 disease.
Additional Information and Advocacy: Patients, families, and healthcare professionals can find additional information and advocacy resources through organizations specializing in lysosomal storage disorders and rare diseases. These organizations provide educational materials, patient support programs, and resources for clinical trials and research.

Understanding the genetic basis of CLN6 disease through genetic testing is crucial for accurately diagnosing the condition, providing appropriate medical care, and identifying potential therapeutic approaches. It offers hope for affected individuals and their families in managing the challenges associated with this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Institutes of Health. GARD provides information about genetic and rare diseases to patients, families, healthcare professionals, and researchers. GARD’s mission is to provide reliable information on genetic and rare diseases in order to improve the diagnosis, treatment, and management of these conditions.

GARD provides information on a wide range of genetic and rare diseases, including CLN6 disease. CLN6 disease, also known as late-infantile neuronal ceroid lipofuscinosis, is a rare childhood condition characterized by the accumulation of lipopigments in the central nervous system. It is caused by mutations in the CLN6 gene and is inherited in an autosomal recessive manner.

GARD is a comprehensive resource for information on CLN6 disease, providing detailed information on the condition, its causes, symptoms, and available treatments. The website also offers a wide range of resources for patients and families, including links to support groups, advocacy organizations, and clinical trials.

Through GARD, patients and families can learn more about CLN6 disease and connect with resources and support. The website provides information on the inheritance patterns of CLN6 disease, as well as information on genetic testing and counseling.

GARD also provides information on other related diseases, research studies, and scientific articles on CLN6 disease. The website includes links to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and ClinicalTrials.gov.

Overall, GARD is a valuable resource for individuals seeking information on CLN6 disease and other genetic and rare diseases. It provides comprehensive and reliable information, as well as links to additional resources and support services.

Patient Support and Advocacy Resources

Patients and their families dealing with CLN6 disease, also known as NCLs (Neuronal Ceroid Lipofuscinoses) or Batten disease, can find various support and advocacy resources to assist them in their journey. These resources provide essential information, emotional support, and opportunities to connect with others facing similar challenges.

The following list includes some valuable patient support and advocacy resources:

CLN6 Disease Information Center – The CLN6 Disease Information Center is a central hub for scientific and genetic information about CLN6 disease. It offers resources for patients and families to learn more about the causes, inheritance patterns, and frequency of this rare genetic condition. It also provides information about ongoing research and clinical trials related to CLN6 disease.
National CLN6 Disease Association – The National CLN6 Disease Association is a patient advocacy organization that aims to support individuals and families affected by CLN6 disease. They provide resources, educational materials, and a platform for sharing experiences. This organization also advocates for increased awareness and funding for CLN6 disease research.
Williams Syndrome Association – Although not directly associated with CLN6 disease, the Williams Syndrome Association can be a valuable resource for individuals and families dealing with rare genetic conditions. They offer support groups, educational resources, and access to research and clinical studies.
PubMed and OMIM – PubMed and OMIM are scientific databases that contain articles and research studies related to various diseases, including CLN6 disease. Patients and their families can use these resources to gain a better understanding of the condition and stay updated on the latest scientific advancements.
ClinicalTrials.gov – ClinicalTrials.gov is a comprehensive online database that provides information about ongoing clinical trials worldwide. Patients and families can search for clinical trials related to CLN6 disease to explore potential treatment options and participate in research studies.
Genetic Testing and Counseling Centers – Genetic testing and counseling centers can offer important support to patients and families affected by CLN6 disease. These centers provide guidance on genetic testing options, inheritance patterns, and available resources for managing the condition.

Research Studies from ClinicalTrialsgov

CLN6 disease is a rare genetic disorder that affects lysosomes, which are responsible for breaking down substances within cells. This disease causes a loss of functional proteins in the lysosomal system, leading to the accumulation of these substances and the death of cells. CLN6 disease typically occurs in childhood and is associated with a range of symptoms including seizures, vision loss, and decline in cognitive and motor function.

Research studies from ClinicalTrialsgov have been conducted to better understand the causes and progression of CLN6 disease. These studies aim to learn more about the genetic inheritance pattern of the condition, identify additional genes that may be associated with the disease, and develop new therapeutic approaches.

ClinicalTrialsgov provides a free, comprehensive catalog of clinical studies throughout the world. Their database includes information about ongoing and completed studies related to CLN6 disease, as well as many other rare genetic diseases. The website offers resources for patients, including articles on scientific research and advocacy organizations that support individuals affected by CLN6 disease.

One study listed on ClinicalTrialsgov focuses on the frequency of CLN6 disease and other rare lysosomal storage disorders. The study aims to collect data from patients with CLN6 disease and will use this information to create a central patient registry. This registry will serve as a valuable resource for researchers and clinicians studying CLN6 disease, providing a centralized database of patient information that can be used for research and testing.

Another study listed on ClinicalTrialsgov is investigating the use of a drug called ncls in the treatment of CLN6 disease. The drug has shown promise in preclinical studies, and this trial aims to assess its safety and efficacy in patients with CLN6 disease. If successful, the use of ncls could provide a potential treatment option for individuals with this rare genetic condition.

In addition to these specific studies, ClinicalTrialsgov offers a wealth of information about rare genetic diseases like CLN6 disease. The website includes references to scientific articles, resources for patient advocacy organizations, and information on testing for genetic conditions like CLN6 disease. By collectively supporting and sharing information, researchers, clinicians, and patients can work together to advance our understanding and treatment of rare genetic diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information about various diseases and their associated genes. CLN6 disease is one such condition that can be found in this catalog.

Lysosomes play a central role in the cell’s waste disposal system. In CLN6 disease, the lysosomes lose their functional capacity, leading to the accumulation of substances that should be degraded. This condition is one of the neuronal ceroid lipofuscinoses (NCLs), a group of rare genetic diseases that collectively cause childhood death.

OMIM provides information on the genetic causes, inheritance patterns, clinical features, and additional resources for CLN6 disease. This catalog also contains references to scientific articles and other research studies related to the condition. These resources can support further research and studies on CLN6 disease.

Patients and their families can find information on clinical trials related to CLN6 disease on clinicaltrialsgov. This platform hosts listings for ongoing and upcoming studies that aim to find treatments for rare diseases like CLN6.

OMIM also provides data on the frequency of CLN6 disease and other associated genes and diseases. This information is useful for understanding the prevalence of the condition and its impact on affected individuals and their families.

Advocacy groups and organizations working on rare diseases can refer to OMIM for information on CLN6 disease and its associated genes. This catalog serves as a valuable resource for learning more about the condition, genetic testing, and available resources for support.

Overview of CLN6 Disease
Genetic Cause	Defects in the CLN6 gene
Inheritance	Autosomal recessive
Clinical Features	Neuronal deterioration, vision loss, seizures, motor impairments, early death
Additional Resources	Genetic testing, patient advocacy groups, research institutions

OMIM provides a wealth of information on CLN6 disease and many other genetic conditions. This catalog serves as a valuable tool for researchers, healthcare professionals, and individuals seeking to understand rare diseases and their genetic basis.

For more information about CLN6 disease and related genes and diseases, visit OMIM at www.omim.org.

Scientific Articles on PubMed

CLN6 disease, also known as neuronal ceroid lipofuscinosis 6, is a rare genetic condition that affects the central nervous system in childhood. It is characterized by the accumulation of substances called lipopigments in the lysosomes of cells, leading to the progressive loss of neurological functions.

Scientific articles on PubMed provide valuable information on the causes, inheritance patterns, and functional consequences of CLN6 disease. Researchers and clinicians can learn from these articles throughout the course of their research and patient care.

Several genes have been associated with CLN6 disease, and their mutations have been linked to the loss of lysosomal function. Studies have shown that these mutations lead to the abnormal accumulation of lipopigments in the lysosomes, causing cellular dysfunction and eventual death of neurons.

PubMed provides a catalog of scientific articles on CLN6 disease, which can be accessed for free. These articles cover a wide range of topics, including clinical studies, genetic testing, and additional resources for patient support and advocacy.

One example of a study on CLN6 disease is the “OMIM entry on CLN6,” which provides a comprehensive overview of the disease and its associated genes and proteins. It also includes information on the inheritance pattern and frequency of CLN6 disease.

Another article titled “Functional characterization of CLN6 mutations” focuses on the functional consequences of specific CLN6 gene mutations. The study provides insights into the molecular mechanisms underlying the disease and highlights potential therapeutic targets.

In addition to scientific articles, PubMed lists clinical trials related to CLN6 disease. These trials aim to evaluate new treatments and interventions for the condition. Researchers and patients can find more information on ongoing clinical trials on ClinicalTrials.gov.

In summary, scientific articles on PubMed offer valuable information on CLN6 disease, including its causes, clinical features, and potential treatment options. These articles provide a foundation for further research and contribute to the understanding and management of this rare genetic disorder.

References

OMIM database: CLN6 gene
Advocacy organizations for CLN6 disease
Genes and diseases associated with CLN6
Genetic testing for CLN6 disease
Patient support and advocacy organizations for CLN6 disease
Scientific articles on CLN6 disease and its causes
Research studies on CLN6 disease and its inheritance
Additional information on CLN6 disease from clinicaltrialsgov
Publications and resources about CLN6 disease
Information about other lysosomal storage diseases
Catalog of diseases associated with CLN6
Information on the central nervous system involvement in CLN6 disease
Studies on the loss of functional proteins in CLN6 disease
Frequency of CLN6 disease in the population
Research on the causes and mechanisms of CLN6 disease