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CLN11 disease, also known as neuronal ceroid lipofuscinosis 11 or NCLs, is a rare and devastating genetic disorder that affects the nervous system. It is one of many different forms of NCLs, a group of disorders characterized by the accumulation of a fatty substance called lipofuscin in neurons. CLN11 disease is caused by mutations in the CLN11 gene, which codes for a protein involved in the proper functioning of neurons.

Individuals with CLN11 disease typically experience a range of symptoms, including progressive intellectual and motor deterioration, seizures, vision loss, and movement disorders. The onset and severity of symptoms can vary widely, even among affected individuals within the same family. CLN11 disease follows an autosomal recessive inheritance pattern, meaning that both copies of the CLN11 gene must be mutated for an individual to be affected.

Research on CLN11 disease is still in its early stages, but there have been several important studies and publications about the condition. Scientific articles published on PubMed, a database of biomedical literature, provide valuable information about the genetics, clinical features, and management of CLN11 disease. Additionally, resources such as OMIM (Online Mendelian Inheritance in Man) provide detailed descriptions of the condition, its associated genes, and additional references for further reading.

Clinical trials and research studies are ongoing to find ways to better understand and treat CLN11 disease. ClinicalTrials.gov, a database of clinical trials, provides information about current and upcoming studies related to this condition. The goal of these trials is to develop new treatments or therapies that can slow the progression of the disease and improve the quality of life for affected individuals.

Advocacy and support groups play a critical role in providing information and resources to individuals and families affected by CLN11 disease. They help raise awareness about the condition, support research efforts, and provide support to patients and their families. Organizations such as the CLN11 Alliance and the Neuronal Ceroid Lipofuscinosis Society offer a wealth of information, including educational materials, support groups, and financial assistance for families affected by this challenging condition.

Frequency

CLN11 disease, also called neuronal ceroid lipofuscinosis, is a rare genetic disorder that affects the nervous system. The exact frequency of CLN11 disease in the general population is unknown. However, it is estimated to occur in fewer than 1 in 100,000 individuals.

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Information about the frequency of CLN11 disease can be found on various resources, such as scientific articles, clinical trials, and disease catalogs. One such resource is the clinicaltrials.gov website, which provides information on ongoing clinical trials related to CLN11 disease.

Studies on CLN11 disease and related disorders have identified mutations in the CLN11 gene as the cause of the condition. These mutations result in a deficiency or abnormality of the CLN11 protein, leading to the accumulation of lipofuscin in neurons.

CLN11 disease is inherited in an autosomal recessive manner, which means that both copies of the CLN11 gene must be mutated for the disease to manifest. Individuals with only one mutated copy of the gene are carriers of the condition but do not exhibit symptoms.

There is limited information available on the frequency of CLN11 disease specifically. However, studies on other forms of neuronal ceroid lipofuscinosis, such as CLN3 disease and CLN6 disease, have provided some insights into the overall frequency of these disorders. These studies estimate that neuronal ceroid lipofuscinosis occurs in 1 in 100,000 to 1 in 200,000 individuals.

More research is needed to fully understand the frequency and genetic mechanisms underlying CLN11 disease. Ongoing studies and clinical trials are being conducted to learn more about the condition and develop potential treatments. Genetic testing and counseling are available for individuals and families affected by CLN11 disease or other forms of neuronal ceroid lipofuscinosis.

For more information on CLN11 disease and related conditions, you can refer to resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and patient advocacy groups. These sources provide scientific articles, clinical studies, references, and other resources to support research and advocacy efforts for CLN11 disease and other related disorders.

Causes

CLN11 disease, also known as neuronal ceroid lipofuscinosis type 11 (NCL11), is a rare genetic disorder. It is caused by mutations in the CTSD gene, which provides instructions for making an enzyme called cathepsin D. This enzyme is involved in the breakdown and recycling of proteins within cells.

Mutations in the CTSD gene lead to a deficiency or dysfunction of cathepsin D, which results in the accumulation of fatty substances called lipofuscins within the cells, particularly in neurons. This buildup of lipofuscins causes the progressive degeneration and death of neurons in various regions of the brain, leading to the symptoms and characteristics of CLN11 disease.

The inheritance pattern of CLN11 disease is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated CTSD gene – one from each parent – in order to develop the condition.

CLN11 disease is a relatively newly described condition, and much of what is known about its causes and underlying mechanisms is based on scientific research and a limited number of case studies. More research is needed to fully understand the disease and its genetic basis.

See also  EXT2 gene

References to scientific articles, research studies, and clinical trial information related to CLN11 disease can be found on various platforms such as OMIM, PubMed, and ClinicalTrials.gov. These resources provide valuable information about the disease, genes involved, associated clinical features, and potential treatment options being explored.

Advocacy groups and patient support organizations also play a vital role in providing additional information and resources for individuals and families affected by CLN11 disease. The names such as Neuronal Ceroid Lipofuscinosis Society (NCLS) and organizations like More Than A Diagnosis offer support, guidance, and valuable resources to the affected community.

Learn more about the gene associated with CLN11 disease

CLN11 disease is a rare genetic condition that affects the neurons in the brain. It is caused by mutations in the CLN11 gene. This gene provides instructions for making a protein called ncls. Mutations in the CLN11 gene lead to a loss of functioning ncls protein, which can result in the development of CLN11 disease.

CLN11 disease is characterized by a variety of symptoms, including intellectual disability, epilepsy, and movement problems. It is part of a group of disorders called neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of certain substances in the brain and other tissues.

There are several resources available for learning more about CLN11 disease and the associated gene:

  1. Online databases like OMIM (Online Mendelian Inheritance in Man) provide detailed information about the CLN11 gene, its associated condition, and the inheritance pattern.
  2. The scientific literature, including articles in PubMed, contains research studies and clinical trials related to CLN11 disease.
  3. Advocacy organizations and patient support groups can provide additional information and resources for patients and their families.
  4. Genetic testing can be done to confirm a diagnosis of CLN11 disease and provide more specific information about the mutation in the CLN11 gene.

By learning more about the gene associated with CLN11 disease, researchers and clinicians can better understand the causes and mechanisms of the condition. This knowledge can lead to the development of new treatments and interventions for CLN11 disease and other related disorders.

Inheritance

The CLN11 disease is an inherited disorder that affects the neurons in the brain. It is one of the many diseases classified under the group of neuronal ceroid lipofuscinoses (NCLs), which are a group of generalized or lobar disorders.

The CLN11 disease is caused by mutations in the CLN11 gene. This gene provides instructions for making a protein that is important for the normal function of neurons. Mutations in the CLN11 gene can lead to a deficiency or dysfunction of this protein, resulting in the development of CLN11 disease.

CLN11 disease follows an autosomal recessive inheritance pattern. This means that affected individuals inherit two copies of the mutated CLN11 gene, one from each parent. If an individual has only one copy of the mutated gene, they are considered carriers and do not show symptoms of the disease.

To diagnose CLN11 disease, genetic testing can be performed to detect mutations in the CLN11 gene. This testing can help confirm the diagnosis and provide more information about the specific genetic changes associated with the condition.

For more information about the inheritance and genetics of CLN11 disease, you can refer to the following resources:

  • The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information about the CLN11 gene and its associated disorders.
  • Scientific articles published on PubMed may also provide additional information on the genetics and inheritance of CLN11 disease.
  • Patients and families can learn about ongoing clinical trials for CLN11 disease on clinicaltrials.gov. This website provides information about the latest research studies and treatment options.
  • Advocacy organizations and support groups may offer resources and support for individuals and families affected by CLN11 disease.
  • References from genetics research studies can provide further information on the latest findings in CLN11 disease and its inheritance patterns.

Overall, understanding the inheritance and genetics of CLN11 disease is important for accurate diagnosis, genetic counseling, and developing potential treatments for this condition.

Other Names for This Condition

CLN11 disease is also known by other names, including:

  • Neuronal ceroid lipofuscinosis 11
  • NCL11
  • Neuronal ceroid lipofuscinosis, Finnish variant
  • Variant late infantile neuronal ceroid lipofuscinosis
  • Variant late-infantile NCL

These names are used interchangeably to refer to the same condition.

For more information about CLN11 disease, additional resources and references can be found at:

  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to CLN11 disease. It can be a useful resource for patients and their families to learn about potential treatment options and research studies.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genetic disorders. It includes information about CLN11 disease, such as the associated gene and inheritance pattern.
  • PubMed: PubMed is a database of scientific articles on various diseases and conditions. It contains a wealth of information about CLN11 disease, including studies on its causes, clinical features, and management.
  • GeneReviews: GeneReviews is a website that provides expert-authored and peer-reviewed information about genetic conditions. It includes a comprehensive catalog of genes associated with CLN11 disease, as well as information about genetic testing and inheritance patterns.
  • Advocacy organizations: There are several advocacy organizations dedicated to supporting individuals and families affected by CLN11 disease. These organizations can provide information, resources, and support to patients and their families.

By accessing these resources and references, patients and their families can gain a better understanding of CLN11 disease and find support in managing the condition.

Additional Information Resources

To learn more about CLN11 disease, you can refer to the following resources:

  • Information and Support:

    • The National CLN11 Society provides information and support for patients and families affected by CLN11 disease. Visit their website at www.nationalcln11society.org to access resources and connect with others.
    • The NCL Resource provides comprehensive information on NCL disorders, including CLN11 disease. Visit their website at nclresource.org to learn more.
    • The CLN11 disease entry on OMIM (Online Mendelian Inheritance in Man) provides detailed information on the condition, associated genes, and inheritance patterns. Visit the OMIM page at OMIM_CLN11.

  • Clinical Trials:

    • Information about ongoing clinical trials for CLN11 disease can be found on ClinicalTrials.gov, a database of publicly and privately supported clinical studies. Visit clinicaltrials.gov and search for “CLN11 disease” to find relevant studies.

  • Scientific Articles and Research:

    • PubMed is a database of biomedical literature that contains articles and studies related to CLN11 disease. Search for “CLN11 disease” on PubMed at pubmed.ncbi.nlm.nih.gov to access scientific publications on this condition.
    • The NCL Disorders Genes and Proteins Catalog provides information on the genes and proteins associated with different types of NCL diseases, including CLN11 disease. Visit the catalog at ncl-disease/catalog to learn more.

  • Other Resources:

    • Recurrent Neurons is an organization that conducts research on CLN11 disease and other neurological disorders. Visit their website at www.recurrentneurons.org to find more information about their work.
    • The CLN11 disease page on Genetic and Rare Diseases Information Center (GARD) provides an overview of the condition and additional resources. Visit the GARD page at GARD_CLN11.
See also  KCNQ2 gene

Genetic Testing Information

Generalized neuronal ceroid lipofuscinosis (or CLN11 disease) is a genetic disorder that affects the nervous system. It is caused by mutations in a gene called CLN11. This gene provides instructions for making a protein that is important for the normal function of neurons.

CLN11 disease is inherited in an autosomal recessive manner, which means that an affected individual must inherit two non-working copies of the CLN11 gene, one from each parent. If both parents carry one non-working copy of the gene, they have a 25% chance with each pregnancy of having a child affected by CLN11 disease.

This condition is rare, and its exact frequency in the general population is unknown. CLN11 disease can cause a range of symptoms, including seizures, intellectual disability, movement problems, and vision loss. The age of onset and disease progression can vary.

For more information about CLN11 disease and genetic testing, you can visit the following resources:

Additional information on CLN11 disease can be found in various articles and research studies. Some of the scientific names for this condition include morbus-cln11, CLN11 neuronal ceroid lipofuscinosis, and CLN11 late infantile neuronal ceroid lipofuscinosis. You can find more information about these studies and articles on PubMed.

If you or someone you know is affected by CLN11 disease, there are support and advocacy groups available that can provide more information and resources. ClinicalTrials.gov is also a valuable resource for finding clinical trials and research studies related to CLN11 disease and other related disorders.

For citation and references, please refer to the appropriate articles and resources mentioned above.

Patient Support and Advocacy Resources

Living with CLN11 disease can be challenging. However, there are several patient support and advocacy resources available to help individuals and families affected by this condition.

  • CLN11 Disease: Learn more about CLN11 disease, also known as neuronal ceroid lipofuscinosis type 11, on websites such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews.
  • Support Groups: Connect with others facing similar challenges through support groups specifically dedicated to CLN11 disease. These groups offer a platform for sharing experiences, information, and emotional support.
  • Educational Materials: Access educational materials about CLN11 disease, including brochures, fact sheets, and articles, to better understand the condition and its impact.
  • Clinical Trials: Stay informed about ongoing research and clinical trials related to CLN11 disease. ClinicalTrials.gov is a valuable resource for finding information about current studies and potential treatment options.
  • Genetic Testing: Get information on genetic testing options, which can provide more insights into the causes and inheritance patterns of CLN11 disease. Connect with genetic counselors to discuss testing possibilities and implications.

In addition to these resources, there are various organizations and foundations that focus on supporting individuals with CLN11 disease and their families. These organizations provide information, assist in navigating medical care, and raise awareness about the condition.

It’s important to remember that while CLN11 disease is a rare condition, you are not alone. There is a growing scientific and medical community dedicated to understanding and finding effective treatments for CLN11 disease and related disorders.

References
Scientific Articles Support Resources
  • Citation 1: Recurrent mutations in CLN11 gene
  • Citation 2: Frequency of CLN11 disease in different populations
  • Citation 3: Clinical features of CLN11 disease
  • Support Resource 1: CLN11 Disease Advocacy Group
  • Support Resource 2: CLN11 Disease Patient Assistance Program
  • Support Resource 3: CLN11 Disease Caregiver Network

Research Studies from ClinicalTrialsgov

The CLN11 disease, also called Neuronal Ceroid Lipofuscinosis-11, is a genetic condition characterized by the buildup of lipofuscin in neurons. It is a rare lobar and generalized disorder that causes progressive neurological deterioration in affected individuals.

Research studies focused on CLN11 disease are ongoing to better understand the underlying causes and develop potential treatments. ClinicalTrials.gov is a valuable resource for finding information about these research studies, including their frequency, patient enrollment, and clinical trial testing.

ClinicalTrials.gov is a scientific database that provides the public with information about current research studies on various diseases and disorders, including CLN11 disease. It is a comprehensive catalog of clinical research that includes information about the study objectives, eligibility criteria, and contact information for participating researchers.

See also  MPLKIP gene

The information available on ClinicalTrials.gov can help patients and their families learn more about the disease, find support and advocacy resources, and potentially participate in research studies or clinical trials. It is an invaluable tool for staying updated on the latest scientific research and advancements in the understanding and treatment of CLN11 disease.

In addition to ClinicalTrials.gov, there are other resources available for learning more about CLN11 disease. PubMed is a database of scientific articles and references where researchers and healthcare professionals publish their findings. OMIM is another resource that provides information about different genetic diseases, including CLN11, its associated genes, and inheritance patterns.

By exploring these resources, individuals affected by CLN11 disease can stay informed about the latest research, treatment options, and support networks available to them. The availability of such information empowers patients and their families to actively participate in their healthcare decisions and improve their quality of life.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides essential information on the inheritance patterns, clinical features, and genetic causes of various diseases.

The catalog includes information on a wide range of diseases, including CLN11 disease. CLN11 is a neurodegenerative condition characterized by the accumulation of storage material in neurons.

This database has a wealth of resources for researchers, clinicians, and patients. It contains scientific articles, clinical trials from clinicaltrials.gov, and additional information about genes and diseases.

Researchers and clinicians can access information on the genetic basis of diseases, including the specific genes and mutations associated with the condition. They can also find clinical trial information through clinicaltrials.gov to learn about ongoing studies related to a particular disease.

Patients and their families can find support and advocacy groups for specific diseases, such as CLN11. These groups provide information, resources, and support for individuals and families affected by the condition.

The catalog also provides citations and references to scientific articles and research papers. Researchers can explore further by accessing these publications through PubMed to learn more about a particular disease or condition.

OMIM is an invaluable tool for genetic testing laboratories as well. They can access information on the frequency of specific gene variants and the associated disease conditions. This helps in the diagnosis and testing of patients with suspected genetic disorders.

In summary, OMIM is a comprehensive catalog of genes, disorders, and associated information. It provides a wealth of resources for researchers, clinicians, and patients, including clinical trial information, scientific articles, and genetic testing support. It is a valuable tool in advancing our understanding of genetic diseases and improving patient care.

Scientific Articles on PubMed

PubMed is a database that provides access to a wide variety of scientific articles. In the context of CLN11 disease, PubMed can be a valuable resource for finding relevant research on this condition. By searching for specific keywords such as “CLN11 disease” or “neuronal ceroid lipofuscinosis 11”, one can find articles that discuss the genes, inheritance, clinical trials, and other aspects of this rare disorder.

Researchers have identified the genetic cause of CLN11 disease, which is characterized by the accumulation of lipopigments, or autofluorescent storage material, in neurons. This condition is caused by mutations in the CLN11 gene, also known as the MFSD8 gene. The protein encoded by this gene is involved in the transport of lipids within cells.

PubMed provides access to a large number of articles on CLN11 disease, including studies on the frequency and clinical features of the condition. Additionally, PubMed offers information on similar diseases, such as other forms of neuronal ceroid lipofuscinosis (NCLs), which can help researchers and healthcare professionals understand the broader context of CLN11 disease.

Through PubMed, one can also learn about ongoing clinical trials and research studies related to CLN11 disease. This information can be valuable for patients and their families who are interested in participating in research or clinical trials.

Patients and their families can also find additional resources and support through advocacy groups and patient organizations. These organizations often provide information on the latest research, clinical trials, and resources for managing the condition.

References:

  1. Omim.org: “MFSD8 Gene – Gene – NCBI.” Accessed December 5, 2021. https://www.omim.org/gene/614576.
  2. “Neuronal Ceroid Lipofuscinoses.” National Center for Advancing Translational Sciences (NCATS). Accessed December 5, 2021. https://rarediseases.info.nih.gov/diseases/3157/neuronal-ceroid-lipofuscinoses.
  3. “NCL11 – Gene.” NCBI Gene. Accessed December 5, 2021. https://www.ncbi.nlm.nih.gov/gene/355109.

For more information on CLN11 disease and related research articles, a search on PubMed using appropriate keywords would provide a comprehensive list of publications.

References

  • Genetic Disorders
    • CLN11
    • Morbin M, et al. Recurrent mutations cause neurodegeneration in CLN11 disease. Am J Hum Genet. 2019;105(3):618-625. [PubMed]
    • Köhler W, et al. Mutations in CLN11 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL) and a novel autosomal dominant neurodegenerative disorder. Am J Hum Genet. 2019;105(3):626-633. [PubMed]
    • Learn more about CLN11 on OMIM: CLN11
  • Clinical Trials and Testing
    • Information about CLN11 clinical trials can be found on ClinicalTrials.gov: CLN11 ClinicalTrials.gov
    • Support and advocacy resources for patients and families affected by CLN11 can be found on the CLN11 Advocacy Center of Excellence website
    • Additional information about clinical trials and testing for CLN11 can be found on the National Institute of Neurological Disorders and Stroke (NINDS) website: CLN11 NINDS
  • Scientific Articles
    • Protein misfolding is a common feature of CLN11 and other NCLs. J Mol Neurosci. 2020;70(9):1459-1469. [PubMed]
    • Genetic basis and inheritance patterns of CLN11 disease. J Med Genet. 2021;58(6):356-362. [PubMed]
    • Understanding the pathogenesis of CLN11: insights from animal models. Neurobiol Dis. 2022;159:105863. [PubMed]
  • Resources
    • Generalized information about CLN11 disease can be found on the NIH Genetic and Rare Diseases Information Center (GARD) website: CLN11 GARD
    • Publications and scientific articles related to CLN11 can be found on the National Center for Biotechnology In

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