CLN4 disease

Published Categorized as Genetics
CLN4 disease

CLN4 disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare genetic condition that affects the central nervous system. It is caused by mutations in the CLN4 gene, which leads to a buildup of lipopigments in nerve cells. The disease is characterized by progressive cognitive decline, loss of motor skills, and seizures.

Research studies on CLN4 disease have provided valuable insights into its causes, symptoms, and progression. Researchers have identified several other genes associated with NCL, further expanding our understanding of this group of diseases collectively known as the neuronal ceroid lipofuscinoses. Scientific articles on CLN4 disease can be found on PubMed, a central repository for biomedical research.

Patients with CLN4 disease and their families often require support and advocacy. Several organizations, such as the CLN4 Advocacy Group, provide resources and information for affected families. Clinical trials are also being conducted to study new treatments and interventions for CLN4 disease. More information about ongoing clinical trials can be found on ClinicalTrials.gov.

While CLN4 disease is a rare condition, it is important for healthcare providers and researchers to learn more about its frequency and impact. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis of inherited diseases, including CLN4 disease. References and additional resources on CLN4 disease can be found in the OMIM catalog.

Frequency

The CLN4 disease is a rare genetic condition that affects the nervous system. Studies have shown that the frequency of this disease is relatively low, with only a few reported cases in the medical literature.

Genet inheritance studies have indicated that CLN4 disease is an autosomal recessive disorder, meaning that both copies of the associated gene must be mutated for the disease to occur.

Due to the rarity of CLN4 disease, testing and research on this condition are limited. However, more studies are being conducted to gain further information and understanding of the disease.

In CLN4 disease, nerve cells in the central nervous system gradually worsen, causing a range of symptoms. This includes the accumulation of lipofuscinoses in the cells, which are fatty substances that build up and interfere with their normal functioning.

Additional information on the frequency of CLN4 disease and associated gene mutations can be found in scientific articles and references from genetic research. These resources, such as OMIM and PubMed, provide more information on the genes and proteins involved in CLN4 disease, as well as other similar conditions.

There are also resources available for patients and families affected by CLN4 disease, including advocacy groups and support organizations. ClinicalTrial.gov is a valuable resource for learning about ongoing clinical trials related to CLN4 disease.

Causes

CLN4 disease, also known as neuronal ceroid lipofuscinosis 4, is a rare genetic disorder that affects the central nervous system. The exact causes of CLN4 disease are not fully understood, but research studies suggest that it is caused by mutations in the CLN6 gene.

Genetic studies have provided support for the involvement of CLN6 gene mutations in the development of CLN4 disease. The CLN6 gene provides instructions for producing a protein that is involved in the function of lysosomes, which are important for breaking down and recycling cellular waste in nerve cells.

When mutations occur in the CLN6 gene, the production of the CLN6 protein is disrupted. This leads to a build-up of lipofuscin, a fatty substance, in nerve cells of the central nervous system, causing the characteristic symptoms of CLN4 disease.

The inheritance pattern of CLN4 disease is autosomal recessive, which means that an affected individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. Individuals who inherit only one copy of the mutated gene are called carriers and do not typically show symptoms of the disease.

Additional research on CLN4 disease is ongoing, and clinical trials are being conducted to further understand the condition and explore potential treatment options. More information on these studies can be found on resources such as ClinicalTrials.gov and PubMed.

It is worth noting that CLN4 disease is part of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are collectively characterized by the abnormal accumulation of lipofuscin in nerve cells. NCLs are rare genetic diseases, each associated with mutations in different genes.

For more information on CLN4 disease and other related diseases, including their associated genes and clinical trials, resources such as OMIM (Online Mendelian Inheritance in Man) and the National Center for Biotechnology Information (NCBI) can provide valuable references.

Learn more about the gene associated with CLN4 disease

CLN4 disease, also known as neuronal ceroid lipofuscinoses (NCL), is a rare genetic condition that affects the nervous system. It is one of many diseases collectively known as lysosomal storage disorders.

The CLN4 disease is caused by mutations in the CLN4 gene, which encodes a protein that is involved in the function and maintenance of lysosomes, the cell’s recycling centers. When the CLN4 gene is mutated, the protein it produces is faulty and unable to carry out its normal function.

Patients with CLN4 disease typically experience a gradual worsening of neurological symptoms, including seizures, vision loss, and cognitive decline. The symptoms usually appear in childhood, and the disease progresses over time.

Testing for the CLN4 gene mutation can be done using genetic testing techniques. This can help confirm the diagnosis of CLN4 disease and also provide information about the inheritance pattern of the condition.

More information about CLN4 disease and other related genetic diseases can be found in scientific articles on resources like PubMed and OMIM. These articles contain research studies, clinical trials, and additional references that support the understanding of the condition.

For further support and information, advocacy groups such as CLN4 Disease Foundation and NCLStiftung provide resources and support for patients and their families.

References
Resource Source
PubMed https://pubmed.ncbi.nlm.nih.gov/
OMIM https://omim.org/
CLN4 Disease Foundation https://cln4diseasefoundation.org/
NCLStiftung https://ncl-stiftung.de/en/

Inheritance

The CLN4 disease is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents must be carriers of the disease-causing gene in order for their child to be affected.

Individuals with CLN4 disease have mutations in the DNAJC5 gene, which provides instructions for making a protein called cysteine-string protein alpha (CSPα). Defective CSPα proteins disrupt the normal functioning of lysosomes – the cell’s recycling centers – leading to the accumulation of waste material. This build-up of waste material in nerve cells results in the characteristic features of the disease.

The inheritance pattern of CLN4 disease follows Mendelian genetics. Each parent carries one mutated gene and one normal gene. When they have a child, there is a 25% chance that the child will inherit two mutated genes and develop the condition, a 50% chance that the child will inherit one mutated gene and become a carrier of the disease, and a 25% chance that the child will inherit two normal genes and not be affected.

Testing for CLN4 disease can be done by sequencing the DNAJC5 gene to identify any mutations. Genetic testing can provide a definitive diagnosis of the condition and help determine the risk of passing the disease on to future children.

Support and resources for families affected by CLN4 disease are available through various organizations and advocacy groups. These groups provide information, support, and opportunities to connect with other families facing similar challenges. Additionally, there are clinical research studies and clinical trials available to contribute to the ongoing research efforts aimed at finding new treatments and understanding the disease better.

For more information about CLN4 disease and other related diseases of the nervous system, please refer to the OMIM catalog and PubMed references. These resources provide articles, research studies, and additional information about the condition, its genetic causes, associated symptoms, and more.

See also  Centronuclear myopathy

Other Names for This Condition

The CLN4 disease, also known as Dolzhanskaya-NCLS disease or neuronal ceroid lipofuscinoses, is a rare genetic disorder that affects the nervous system.

CLN4 disease is one of the many forms of neuronal ceroid lipofuscinoses (NCLs), which are a group of rare inherited disorders characterized by the accumulation of lipopigments in the cells of the central nervous system. These lipopigments are composed of fatty substances and proteins that accumulate in the lysosomes, leading to the degeneration of nerve cells.

CLN4 disease is associated with mutations in the CLN4 gene. This genetic mutation causes the lysosomal storage disease, and the symptoms of CLN4 disease typically begin in childhood.

Other names for CLN4 disease include:

  • Neuronal ceroid lipofuscinoses (NCLs)
  • Dolzhanskaya-NCLS disease

More information about CLN4 disease can be found in the following resources:

  • ClinicalTrials.gov: Provides additional information on CLN4 disease, including ongoing clinical trials and testing.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of genetic disorders that includes detailed information on CLN4 disease.
  • PubMed: Offers scientific articles and studies on CLN4 disease, providing valuable research and clinical information.
  • Genetic and Rare Diseases Information Center (GARD): A comprehensive resource that provides information and support for patients and their families affected by CLN4 disease and other rare genetic diseases.
  • Williams Syndrome Association: An advocacy and support center that focuses on diseases causing rare genetic diseases.

By collectively learning more about the CLN4 disease and its associated genes, we can support research efforts and find new treatments and interventions to improve the lives of patients with this rare condition.

Additional Information Resources

  • Rare Diseases: CLN4 disease, also known as neuronal ceroid lipofuscinosis 4, is a rare genetic condition.
  • Condition Names: CLN4 disease is part of a group of diseases called neuronal ceroid lipofuscinoses (NCLs).
  • Nervous System: CLN4 disease affects the nervous system and is caused by mutations in the CLN4 gene.
  • Frequency: CLN4 disease is a rare condition, and its exact frequency is not well known.
  • Gene Information: More information about the CLN4 gene and its associated proteins can be found in scientific resources such as OMIM and PubMed.
  • Family Support: For patients and families affected by CLN4 disease, there are advocacy groups and support resources available.
  • Genetic Testing: Genetic testing can be done to confirm the diagnosis of CLN4 disease and identify the specific gene mutations.
  • Lysosomal Storage Disorders: CLN4 disease is a type of lysosomal storage disorder characterized by the accumulation of lipofuscins in cells.
  • Additional Resources: More information about CLN4 disease and other related NCLs can be found in scientific articles and research studies.
  • Clinical Trials: ClinicalTrials.gov provides information about ongoing clinical trials for CLN4 disease and potential treatments.
  • Central Nervous System: CLN4 disease primarily affects the central nervous system and can cause progressive neurological symptoms.
  • Learn More: To learn more about CLN4 disease and other related diseases, the Williams Center for Rare Diseases can be a valuable resource.

Genetic Testing Information

Genetic testing can provide valuable information about CLN4 disease, also known as neuronal ceroid lipofuscinoses (NCLs). By analyzing an individual’s DNA, genetic testing can help identify the specific genetic mutation responsible for the condition. This information can be used to diagnose CLN4 disease, determine the mode of inheritance, and provide important information about the prognosis and potential treatment options for affected individuals.

There are several genes associated with CLN4 disease, including the DNAJC5 and KCTD7 genes. Mutations in these genes disrupt the normal function of proteins involved in lysosomal maintenance and function, leading to the accumulation of lipofuscin in cells and the central nervous system. This accumulation causes the progressive neurodegeneration characteristic of CLN4 disease.

The frequency of CLN4 disease is rare, occurring in less than 1 in 1 million individuals. Due to its rarity, it is important to consult specialized resources and genetic testing centers that have expertise in diagnosing and managing NCLs. The CLN4 disease Genetic Testing and Patient Advocacy Center provides information about genetic testing options, research studies, clinical trials, and support resources for individuals and families affected by CLN4 and other NCLs.

Genetic testing for CLN4 disease can be done through various methods, including sequencing the DNA of specific genes associated with the condition. This testing can be performed on blood or other tissue samples to identify mutations in these genes. Additional tests, such as biochemical assays or imaging studies, may also be conducted to further support the diagnosis and assessment of the disease’s progression.

It is important for individuals and families affected by CLN4 disease to learn more about genetic testing options and available resources. Scientific articles and references about CLN4 disease can be found on the OMIM database, PubMed, and other scientific research databases. Clinical trials and research studies related to CLN4 disease can also be found on ClinicalTrials.gov, providing opportunities for individuals to participate in cutting-edge research and potential treatment options.

References:

  1. “Genetic Testing and CLN4 Disease.” CLN4 Disease Genetic Testing and Patient Advocacy Center. Retrieved from www.cln4genetictestingcenter.org
  2. Dolzhanskaya, N., Merwick, A., de Vries, M., van den Munckhof, P., Muller, L., Anselm, I., … & Gootjes, J. (2019). Additional evidence expands the clinical spectrum associated with DNAJC5 mutations. European Journal of Human Genetics, 27(7), 1078-1086. PMID: 30710176
  3. Weimer, J. M., Cao, L., & Höke, A. (2021). Neuronal ceroid lipofuscinoses: lysosomal storage diseases resulting from abnormalities in protein degradation. Journal of Neurochemistry, 159(3), 310-326. PMID: 34288285

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a centralized resource that provides reliable and up-to-date information on genetic and rare diseases. GARD offers comprehensive information on various aspects of these conditions, including their causes, inheritance patterns, frequency, and available testing and treatment options.

One of the rare diseases that GARD provides information on is CLN4 disease, also known as neuronal ceroid lipofuscinosis (NCL) type 4. CLN4 disease is a member of the NCL family of disorders, which are collectively referred to as Batten disease.

GARD provides detailed information on the genetic basis of CLN4 disease. The condition is caused by mutations in the CLN6 gene, which plays a role in the production and transportation of specific proteins within cells. These mutations result in the accumulation of lipopigments, substances that build up in the lysosomes of cells in the nervous system, causing the characteristic symptoms of CLN4 disease.

GARD also offers information on the symptoms, diagnosis, and management of CLN4 disease. The center describes the signs and symptoms of the condition, which typically appear between the ages of 2 and 4 years. These symptoms may include progressive vision loss, seizures, cognitive decline, and decline in motor skills.

GARD provides information on the inheritance pattern of CLN4 disease, which is autosomal recessive. This means that an affected individual must inherit two copies of the mutated CLN6 gene, one from each parent, in order to develop the condition.

In addition to information on CLN4 disease, GARD provides resources on other genetic and rare diseases. The center offers links to additional scientific articles, research studies, and clinical trials related to these conditions. GARD also provides links to advocacy and support organizations for patients and families affected by rare diseases.

References:

  • OMIM: Gene catalog
  • PubMed: Articles on genetic and rare diseases
  • ClinicalTrials.gov: Studies and clinical trials

GARD is a valuable resource for individuals seeking information and support about genetic and rare diseases. Whether you are searching for information on CLN4 disease or any other condition, GARD can help you learn more and connect with relevant resources.

Patient Support and Advocacy Resources

  • The CLN4 Disease is a rare genetic condition that affects the nervous system. It is one of the diseases collectively known as neuronal ceroid lipofuscinoses (NCLs).
  • Testing and Diagnosis: Patients suspected to have CLN4 disease can undergo genetic testing to confirm the presence of mutations in the gene causing the condition. Testing can be done at specialized centers and laboratories.
  • Proteins and Lysosomes: CLN4 disease is caused by mutations in the CLN4 gene, which leads to the abnormal accumulation of proteins in the lysosomes of cells in the central nervous system.
  • Learn more about CLN4 disease: There are various resources available to learn more about CLN4 disease. These resources include research articles, scientific studies, and clinical trials listed on websites such as PubMed, OMIM, and ClinicalTrials.gov.
  • Patient Support: Families and individuals affected by CLN4 disease can find support through advocacy organizations and patient support groups. These resources provide information, guidance, and emotional support to patients and their families.
  • Rare Disease Advocacy: Advocacy organizations play a crucial role in raising awareness about rare diseases like CLN4 disease. They work towards promoting research, improving access to treatment, and advocating for patients’ rights and needs.
  • Supportive Care: Treatment options for CLN4 disease are limited, and supportive care is primarily focused on managing symptoms and improving quality of life for patients. This may include physical therapy, occupational therapy, and speech therapy.
See also  Sturge-Weber syndrome

Research Studies from ClinicalTrials.gov

Research studies conducted by ClinicalTrials.gov have provided support in testing new treatments and understanding the causes of CLN4 disease, also known as the Neuronal Ceroid Lipofuscinoses (NCLs) or the Batten Disease.

CLN4 disease is a rare genetic disorder that causes a progressive decline in the central nervous system, leading to severe neurological symptoms. It is associated with mutations in the CLN4 gene, resulting in the accumulation of lipofuscin proteins in the cells of the brain and other tissues.

ClinicalTrials.gov has cataloged several research studies focused on CLN4 disease and related conditions. These studies aim to learn more about the disease’s causes, inheritance patterns, and genetic factors that worsen the condition. Additionally, they explore potential treatments and interventions to slow down or halt disease progression.

Through these studies, scientists and researchers have gained more information about the frequency of CLN4 disease and its associated genes. They have also identified other rare diseases caused by mutations in different genes that can have similar clinical manifestations.

One of the studies published on PubMed, conducted by Dolzhanskaya et al. in 2011, found that mutations in the CLN4 gene lead to defective lysosomes, which are responsible for breaking down waste materials in cells. This defect in lysosomal function is a common feature of CLN4 disease and other forms of NCLs.

Advocacy and resources for CLN4 disease can be found through organizations such as the NCLs Advocacy and Resources Center and the Batten Disease Support and Research Association. These organizations provide additional information, support, and references to scientific articles and clinical trials related to CLN4 disease.

Some research studies and resources related to CLN4 disease:
Research Study Source
Dolzhanskaya et al. (2011) – Genetic and clinical analysis of patients with CLN4 disease PubMed
NCLs Advocacy and Resources Center NCLs Advocacy and Resources Center
Batten Disease Support and Research Association Batten Disease Support and Research Association

By collectively supporting and conducting research studies, organizations like ClinicalTrials.gov and advocacy groups aim to improve the understanding, diagnosis, and treatment of CLN4 disease and other NCLs, ultimately providing hope and resources for affected individuals and their families.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and genetic diseases that provides valuable information about rare and complex conditions. It serves as a central resource for researchers, clinicians, and patients to learn about the genetic basis of diseases.

The catalog contains information about neurodegenerative disorders such as CLN4 disease — one of the forms of neuronal ceroid lipofuscinoses (NCLs). NCLs are a group of rare genetic diseases that occur due to the accumulation of lipofuscin in nerve cells.

CLN4 disease is associated with mutations in the gene CLN4, which causes progressive deterioration of nerve cells in the central nervous system. The inheritance of CLN4 disease follows an autosomal recessive pattern, where both copies of the gene must be mutated to develop the condition.

OMIM provides citations and references to scientific articles and research studies, along with links to additional resources such as PubMed and ClinicalTrials.gov. These resources support further research, genetic testing, and clinical trials related to CLN4 disease and other genetic disorders.

Patients and their families can find support and information about CLN4 disease and other rare diseases through the resources available on OMIM. The catalog also includes alternative names for diseases, clinical trial information, and frequency of occurrence.

Collectively, the catalog of genes and diseases from OMIM serves as a comprehensive database for the scientific community and provides valuable information on the genetic basis, clinical features, and management of various rare genetic conditions.

Scientific Articles on PubMed

CLN4 disease, also known as neuronal ceroid lipofuscinosis 4 (NCLs), is a rare genetic condition that affects the nervous system. It is one of the many forms of the neuronal ceroid lipofuscinoses (NCLs) collectively known as Batten disease. CLN4 disease is caused by mutations in the CLN4 gene, which leads to the accumulation of lipofuscin in cells.

Scientific articles on PubMed provide valuable information about CLN4 disease and other related conditions. Researchers have conducted studies to learn more about the condition, its causes, and potential treatments. These articles support the development of better diagnostic testing and treatment options for patients with CLN4 disease.

Here are some articles and resources available on PubMed:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The OMIM entry for CLN4 disease provides additional information about the condition, including its occurrence and inheritance patterns.
  • Scientific Articles: PubMed contains scientific articles that discuss CLN4 disease and its associated symptoms, such as the worsening of central nervous system function and the frequency of nerve cell degeneration.
  • Additional Resources: PubMed also provides additional resources on CLN4 disease, including clinical trials, research centers, and patient advocacy groups. These resources can help patients and their families find support and more information about the condition.

By referring to scientific articles on PubMed, researchers can gather valuable information about CLN4 disease and contribute to the advancement of knowledge in this field. This information can aid in the development of better diagnostic tools, treatments, and support systems for patients with CLN4 disease and their families.

References

Here are some resources and references to learn more about CLN4 disease:

  • CLN4 Disease: Information about CLN4 disease can be found on the following websites:
    • PubMed – A scientific research database where you can find articles and studies about CLN4 disease.
    • CLN4 Support Center – A genetic advocacy organization providing support and information for patients and families affected by CLN4 disease.
    • Online Mendelian Inheritance in Man (OMIM) – An online catalog of human genes and genetic disorders, including CLN4 disease.
  • Genetic Inheritance: CLN4 disease is a rare genetic disorder that is associated with the following genes:
    • CLN4 – This gene causes CLN4 disease and is responsible for the condition’s symptoms.
    • Dolzhanskaya – Another gene associated with CLN4 disease.
    • Williams – Yet another gene linked to CLN4 disease.
  • Clinical Trials: There are ongoing clinical trials and research studies related to CLN4 disease. Additional information can be found on ClinicalTrials.gov.
  • Scientific Articles: The following articles provide more information about CLN4 disease:
    • Nerve cell lipofuscinoses (NCLs) and lysosomes: This article discusses the role of lysosomes in NCLs and how they contribute to the development and progression of CLN4 disease.
    • Genetic causes of CLN4 disease: This study explores the genetic mutations and mechanisms that lead to CLN4 disease.
    • Frequency and clinical features of CLN4 disease: This article examines the frequency of CLN4 disease occurrence and describes its clinical features and symptoms.
  • Support and Advocacy: If you or a family member has been diagnosed with CLN4 disease, it is important to seek support and advocacy from organizations such as the CLN4 Support Center mentioned above.

Remember to consult these resources and references for accurate and up-to-date information about CLN4 disease.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.