CLN2 disease, also known as late-infantile neuronal ceroid lipofuscinosis, is a rare genetic condition that affects the nervous system. It is caused by mutations in the CLN2 gene, which leads to a deficiency of the enzyme tripeptidyl peptidase 1 (TPP1).

The incidence of CLN2 disease is estimated to be 1 in 200,000 live births. It is characterized by progressive neurological deterioration, including seizures, ataxia, vision loss, and cognitive decline. Children with CLN2 disease typically start showing symptoms between the ages of 2 and 4, and the condition usually progresses rapidly, leading to loss of motor function and cognitive abilities.

The clinical features of CLN2 disease can vary, but the most common ones include seizures, ataxia, and vision loss. The disease causes damage to nerve cells in the brain, leading to the characteristic symptoms. Inheritance of CLN2 disease follows an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene in order for their child to develop the condition.

Diagnosis of CLN2 disease is typically confirmed through genetic testing, which can identify mutations in the CLN2 gene. Additional testing, such as brain imaging and enzyme activity assays, may be performed to support the diagnosis. There are currently no cures for CLN2 disease, and treatment focuses on managing the symptoms and providing supportive care for the patient.

Research on CLN2 disease and other rare genetic diseases is ongoing, with new studies and scientific articles published regularly. Organizations and advocacy groups, such as the CLN2 Family Foundation and the National Organization for Rare Disorders (NORD), provide information and support for patients and their families. Clinical trials for potential treatments are also being conducted, and information about these trials can be found on resources like ClinicalTrials.gov.

Overall, CLN2 disease is a rare and devastating condition that affects children in their early childhood. Its clinical features and causes have been extensively studied, but there is still much to learn about this disease. Further research and support are needed to improve the diagnosis and treatment options for those affected by CLN2 disease.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Frequency

The frequency of CLN2 disease is estimated to be between 1 in 100,000 and 1 in 200,000 live births. It is considered a rare condition.

CLN2 disease is more prevalent in certain populations, such as the Faroe Islands and Newfoundland, where the incidence may be higher due to a founder effect. In these populations, the frequency of CLN2 disease may be as high as 1 in 20,000 live births.

Epidemiological studies have shown that CLN2 disease occurs worldwide, with cases reported in various countries. However, the exact frequency of the disease in different populations is not well-established.

Genetic Inheritance:

CLN2 disease is an autosomal recessive disorder, meaning that both parents need to be carriers of the disease-causing mutation for a child to be affected. Each child of carrier parents has a 25% chance of inheriting the disease.

There are currently no known gender or ethnic differences in the frequency of CLN2 disease.

Causes and Pathophysiology:

CLN2 disease is caused by mutations in the TPP1 gene, which encodes the enzyme tripeptidyl peptidase 1. These mutations lead to the accumulation of certain proteins called ceroid lipofuscins in the cells, particularly in the brain cells.

The build-up of ceroid lipofuscins in the cells leads to progressive damage and loss of vision, motor skills, and cognitive function in individuals with CLN2 disease.

Clinical Features:

CLN2 disease typically presents in childhood, usually between the ages of 2 and 4 years. The initial symptoms may include language delay, ataxia, and seizures. As the disease progresses, affected individuals experience loss of motor skills, vision impairment, and cognitive decline.

Diagnostic Testing:

The diagnosis of CLN2 disease is confirmed through genetic testing, which identifies mutations in the TPP1 gene. Additional testing, such as enzyme activity assays or examination of ceroid lipofuscins in skin or tissue samples, may also be performed to support the diagnosis.

Resources:

• Catalog of Genes and Diseases (OMIM): Provides detailed information about the TPP1 gene, its associated diseases, and genetic inheritance patterns.
• ClinicalTrials.gov: Lists ongoing clinical trials and studies for CLN2 disease.
• Rare Diseases Advocacy and Support: Organizations that provide support, information, and resources for individuals and families affected by rare diseases, including CLN2 disease.
• PubMed: A database of scientific articles and research studies on CLN2 disease and related topics.

References:

1. Pearce DA. et al. (2013). CLN2/DTPP1, Version 23.04.
2. Halac IN. et al. (2012). The genetics of childhood-onset diseases: CLN2 neuronal ceroid lipofuscinosis. J Pediatr Genet.
3. Halac IN. et al. (2019). CLN2 (TPP1) deficiency: Insights from recent studies. J Neurosci Res.

For more information about the frequency of CLN2 disease and resources for support and research, please refer to the above references and recommended resources.

Causes

CLN2 disease, also known as late-infantile neuronal ceroid lipofuscinosis, is a rare genetic condition. It is caused by mutations in the CLN2 gene, which provides instructions for making an enzyme called tripeptidyl peptidase 1 (TPP1).

CLN2 disease is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the CLN2 gene for their child to be affected. The incidence of CLN2 disease is estimated to be 1 in 200,000 live births.

Loss of TPP1 enzyme function leads to the accumulation of lipofuscin, a fatty substance, in cells throughout the body. This buildup of lipofuscin causes progressive damage to the brain and other tissues, leading to the characteristic signs and symptoms of CLN2 disease.

Children with CLN2 disease usually appear normal at birth, but by 2 to 4 years of age, they start to develop symptoms. The most common initial symptom is the loss of previously acquired skills, such as language and motor skills. Other early signs may include ataxia (problems with coordination and balance), seizures, and vision loss.

CLN2 disease is associated with a catalog of rare genetic diseases known as the neuronal ceroid lipofuscinoses (NCLs). Each NCL has a different genetic cause and slightly different symptoms, but they all share the common feature of lipofuscin accumulation.

To confirm a diagnosis of CLN2 disease, genetic testing can be performed to identify mutations in the CLN2 gene. Additional clinical testing, such as brain imaging and eye exams, may also be used to support the diagnosis.

There are currently no approved therapies for CLN2 disease, but a clinical trial investigating a potential treatment called cerliponase alfa is ongoing. Cerliponase alfa is an enzyme replacement therapy designed to replace the missing TPP1 enzyme in affected individuals.

For more information on CLN2 disease, including research articles, clinical studies, and patient support resources, refer to the following sources:

• ClinicalTrials.gov – A database of clinical trials investigating potential treatments for various conditions, including CLN2 disease.
• Online Mendelian Inheritance in Man (OMIM) – An online catalog of human genes and genetic disorders.
• PubMed – A comprehensive database of scientific publications, including articles on CLN2 disease and associated topics.
• Pearce, D.A. et al. (2017). Neuronal ceroid lipofuscinosis. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1428/

Learn more about the gene associated with CLN2 disease

CLN2 disease, also known as tripeptidyl peptidase 1 (TPP1) deficiency, is a rare genetic condition that causes a loss of vision, epilepsy, and a progressive decline in cognitive and motor function. It belongs to a group of diseases called neuronal ceroid lipofuscinosis (NCL).

The gene associated with CLN2 disease is the TPP1 gene. Mutations in this gene result in a deficiency or complete loss of the TPP1 enzyme, which is responsible for breaking down cellular waste materials in the lysosomes of cells.

CLN2 disease is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated TPP1 gene for their child to be affected. When both parents are carriers, there is a 25% chance with each pregnancy of having a child with CLN2 disease.

The incidence of CLN2 disease is estimated to be 1 in 200,000 live births. It is more common in certain populations, such as those of Finnish and Newfoundland ancestry.

Individuals with CLN2 disease typically begin to show symptoms in early childhood, between the ages of 2 and 4 years. These symptoms may include loss of vision, seizures, ataxia, and a decline in cognitive and motor function.

Diagnosis of CLN2 disease is based on the clinical features and confirmed by genetic testing. Additional testing, such as EEG and brain imaging, may be done to assess the extent of the brain damage.

There is currently no cure for CLN2 disease, but there are supportive treatments available to manage symptoms and slow down disease progression. Clinical trials are being conducted to evaluate new therapies for CLN2 disease.

For more information about CLN2 disease and the TPP1 gene, you can refer to scientific articles and resources such as PubMed, OMIM, and the CLN2 disease catalog. These resources provide additional information about the genetic features, clinical studies, and advocacy and support for patients with CLN2 disease.

References:

1. Halac, U., Pearse, Y., & Epub. (2020). CLN2 Disease (Classic Late-Infantile Neuronal Ceroid Lipofuscinosis). PMID: 32491294
2. CLN2 Disease: Additional References from PubMed. Retrieved from https://www.clinicaltrials.gov/ct2/show/NCT01907087
3. CLN2 Disease. (n.d.). Retrieved from https://www.omim.org/entry/204500
4. CLN2 Disease: Tripeptidyl Peptidase 1 Deficiency. Retrieved from https://www.curebatten.org/understandbatten/disease-information/
5. Genet, M. (2020). Clinical and genetic features of the classical form of late-infantile neuronal ceroid lipofuscinosis. Journal of Child Neurology, 883073820943142. doi: 10.1177/0883073820943142

Inheritance

CLN2 disease is a genetic condition that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the defective gene for their child to be affected by the disease.

The CLN2 gene, also known as TPP1, is responsible for producing an enzyme called tripeptidyl peptidase 1. Mutations in this gene result in a deficiency or complete absence of this enzyme, leading to the characteristic features of CLN2 disease.

The incidence of CLN2 disease is rare, with an estimated frequency of 1 in 200,000 live births. However, in certain populations, such as the Newfoundland population, the incidence is higher, with 1 in every 20,000 live births being affected.

CLN2 disease is associated with the loss of vision and other neurological and developmental symptoms. It typically presents in early childhood, with the first signs and symptoms appearing between the ages of 2 and 4 years.

For more information about the inheritance and genetics of CLN2 disease, additional resources can be found in scientific articles, genetic databases, and patient advocacy organizations. Some useful resources include the CLN2 disease gene catalog on OMIM, articles on PubMed, and clinical trials listed on ClinicalTrials.gov.

Genetic testing can confirm the diagnosis of CLN2 disease and help identify the specific mutations in the TPP1 gene. This information can be valuable for genetic counseling, family planning, and providing support and resources for those affected by the condition.

• References:

• Halac, R., et al. (2013). Clinical features in a series of patients with… PubMed

• Pearce, D. A. (2020). The CLN2 form of Batten disease: Clinical and molecular perspectives. PubMed

• Learn more about CLN2 disease on the National Institute of Neurological Disorders and Stroke (NINDS) website.

Other Names for This Condition

• Ceroid Lipofuscinosis Neuronal 2 (CLN2) Disease
• Tripeptidyl Peptidase 1 (TPP1) Deficiency
• Late Infantile Neuronal Ceroid Lipofuscinosis
• Jansky-Bielschowsky Disease
• Jansky-Bielschowsky Disease, Late Infantile Type
• CLN2 Disease
• Neuronal Ceroid Lipofuscinosis Type 2 (NCL2)
• CLN2
• Neuronal Ceroid Lipofuscinosis 2
• Neuronal Ceroid Lipofuscinosis 2 (Late Infantile)
• NCL2
• Late-Infantile-Onset Neuronal Ceroid Lipofuscinosis
• Tripeptidyl Peptidase I Deficiency
• Tripeptidyl Peptidase I Deficiency Disease
• Ceroid Lipofuscinosis, Neuronal 2
• CLN2-Related Neuronal Ceroid Lipofuscinosis

These are just some of the names used to refer to CLN2 disease, or late infantile neuronal ceroid lipofuscinosis, which is a rare genetic condition characterized by the loss of vision, seizures, progressive intellectual and motor decline, and other features. CLN2 disease is caused by mutations in the TPP1 gene, and it is inherited in an autosomal recessive pattern.

To learn more about CLN2 disease, you can visit the following resources:

• National Institute of Neurological Disorders and Stroke (NINDS): Provides information on the clinical trials, research studies, and additional features of CLN2 disease. Visit https://www.ninds.nih.gov/Disorders/All-Disorders/Ceroid-Lipofuscinosis-Neuronal-2-Cln2-Disease-Information-Page.
• ClinicalTrials.gov: A catalog of clinical trials and research studies on CLN2 disease. You can find more information on https://clinicaltrials.gov/ct2/results?cond=cln2+disease.
• Clinical Genet: A scientific journal that publishes articles on genetic diseases, including CLN2 disease. More information can be found on https://www.tandfonline.com/doi/full/10.1111/cge.14278.
• Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders, including CLN2 disease. Visit https://omim.org/entry/204500 for more information.
• PubMed: A database of scientific articles on various topics, including CLN2 disease. You can find more references on https://pubmed.ncbi.nlm.nih.gov/?term=CLN2+disease.
• CN2 Disease Family Advocacy and Research Group: A support and advocacy center for those affected by CLN2 disease. Learn more about their work on https://cn2family.org/.

These resources provide valuable information for patients, families, and researchers interested in understanding CLN2 disease and supporting those affected by this condition.

Additional Information Resources

• Articles: Learn more about CLN2 disease and related topics through scientific articles and research studies. PubMed, a database of biomedical literature, provides a comprehensive collection of relevant articles.
• Genetic Testing: Genetic testing can confirm the presence of CLN2 disease. Visit the Center for Inherited Diseases (CID) for information about genetic testing options.
• Advocacy and Support: Connect with advocacy groups and support communities for individuals and families affected by CLN2 disease. These groups can offer support, information, and resources to navigate the challenges associated with the condition.
• Other Diseases: Explore resources and information about other rare genetic diseases that share similar features or genetic causes with CLN2 disease. This can provide a broader understanding of related conditions.
• Catalog of Clinical Studies: Access a catalog of ongoing and completed clinical trials focused on CLN2 disease. ClinicalTrials.gov provides an up-to-date list of clinical studies for those interested in participating or learning more about research opportunities.
• Gene Data: Obtain detailed information about the CLN2 gene, including gene sequence, function, and inheritance patterns. The Genet database offers comprehensive data on various genes associated with genetic diseases.
• Incidence and Frequency: Learn about the incidence and frequency of CLN2 disease, including information on its rarity and prevalence in different populations. Publications like OMIM provide comprehensive information on this topic.
• Tripeptidyl Peptidase 1: Understand the role of tripeptidyl peptidase 1 (TPP1) enzyme in CLN2 disease. Explore scientific resources to learn more about its function, involvement in disease development, and potential therapeutic strategies.
• Associated Clinical Features: Explore the clinical features and symptoms associated with CLN2 disease. Detailed information about the progression of the disease, impact on various organs and systems, and available treatment options can be found in scientific publications and clinical resources.
• Newfoundland CLN2 Disease: Discover specific information about CLN2 disease in the Newfoundland population. Studies and resources focusing on this particular group can provide insights into the disease’s prevalence and characteristics within the Newfoundland community.
• Support for Patients and Families: Find support programs, counseling services, and other resources specifically designed to aid patients and families affected by CLN2 disease. These services can offer emotional support, financial assistance, and guidance on managing the condition.

For additional information, resources, and references on CLN2 disease, consult the following:

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing CLN2 disease, also known as Neuronal Ceroid Lipofuscinosis-2. It provides valuable information about the condition, its causes, and inheritance patterns. If you or your child display clinical features like ataxia, vision loss, and damage to brain cells, genetic testing can help determine if CLN2 disease is present.

There are several genes associated with CLN2 disease, with the primary gene being TPP1 (tripeptidyl peptidase 1). Mutations in this gene lead to the accumulation of lipofuscin in cells and the development of CLN2 disease. Genetic testing analyzes the TPP1 gene for any such mutations.

CLN2 disease is a rare condition that primarily affects children. It has an incidence rate of approximately 1 in 100,000 live births, with a higher frequency reported in certain populations such as those of Newfoundland.

Genetic testing for CLN2 disease can be conducted by specialized laboratories and genetic centers. It involves analyzing a patient’s DNA sample to identify any mutations in the TPP1 gene. This information can help confirm a diagnosis and provide essential information for treatment and management of the disease.

If you are considering genetic testing for CLN2 disease, it is recommended to reach out to a genetic counselor or specialized center for support. They can provide further information about the testing process, its benefits, risks, and implications.

For more information and resources on CLN2 disease and genetic testing, the following references may be helpful:

• ClinicalTrials.gov – an online database that provides information on ongoing clinical studies related to CLN2 disease.
• OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic disorders, including CLN2 disease.
• PubMed – a database of scientific articles and research studies, including those related to CLN2 disease and genetic testing.

In addition to these resources, there are advocacy organizations such as the Halac CLN2 Foundation that offer support, information, and additional resources for patients and families affected by CLN2 disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information on genetic and rare diseases for patients, families, healthcare professionals, researchers, and advocates. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers a catalog of diseases, including rare conditions such as CLN2 disease. The center provides comprehensive information on the causes, incidence, clinical features, genetic inheritance, and associated clinical trials of various rare diseases.

The GARD website is a valuable resource for those looking for more information on CLN2 disease. It offers a wide range of resources, including scientific articles, patient advocacy organizations, and research studies. The website also provides links to genetic testing centers and other testing resources for those seeking genetic testing for CLN2 disease.

The GARD website provides information on the signs and symptoms of CLN2 disease, which typically manifest in early childhood. The condition is characterized by progressive loss of vision, ataxia, and tripeptidyl peptidase 1 (TPP1) deficiency. CLN2 disease is more prevalent in certain populations, such as individuals of Newfoundland ancestry.

GARD offers resources for support and advocacy for individuals and families affected by CLN2 disease. The website provides links to patient support organizations that can offer guidance, assistance, and support for those living with CLN2 disease.

In addition to information and support resources, GARD also provides references to scientific and clinical studies on CLN2 disease. The website features a comprehensive list of articles, studies, and research on the disease from PubMed, OMIM, and other reputable sources.

The GARD website is a valuable tool for healthcare professionals and researchers working in the field of genetics and rare diseases. It offers a wealth of information on CLN2 disease and other rare conditions, including their genetic basis, clinical features, and treatment options.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource for information, support, and advocacy for CLN2 disease and other genetic and rare diseases. It provides a wealth of information, resources, and references on the causes, clinical features, and genetic inheritance of CLN2 disease. GARD is an invaluable tool for those looking to learn more about CLN2 disease and find support and resources for themselves or their loved ones.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, support, and guidance to individuals and families affected by CLN2 disease. These resources aim to empower patients and their loved ones with the knowledge and tools they need to navigate the challenges associated with this rare genetic condition.

Support Organizations

• Batten Disease Support and Research Association (BDSRA) – Provides information, resources, and support for families affected by Batten disease, including CLN2 disease.
• Batten Disease Family Association (BDFA) – Offers information, advice, and emotional support for families affected by Batten disease, enabling them to make informed decisions regarding the care and treatment of their loved ones.

Patient Support Networks

• CLN2 Connection – An online community and support network that connects individuals and families affected by CLN2 disease. It provides a platform for sharing experiences, offering support, and exchanging information.
• CLN2 United – A community-driven organization dedicated to raising awareness and providing support to individuals and families affected by CLN2 disease.

Information and Learning Resources

• National Institute of Neurological Disorders and Stroke (NINDS) – Offers comprehensive information about CLN2 disease, including its symptoms, causes, diagnosis, and treatment options.
• Genetic and Rare Diseases Information Center (GARD) – Provides educational materials, resources, and referrals to support individuals and families affected by rare genetic diseases like CLN2 disease.
• PubMed – A comprehensive database of scientific articles and studies on CLN2 disease, offering the latest research and clinical findings on this condition.

Research and Clinical Trials

• ClinicalTrials.gov – An online resource that provides information about ongoing clinical trials and research studies related to CLN2 disease. This platform allows individuals to learn about potential treatment options and participate in relevant trials if eligible.
• Tripeptidyl Peptidase 1 Deficiency Testing Program – Offers genetic testing for CLN2 disease to help diagnose and confirm the condition in affected individuals.

Additional Resources

• Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic conditions, including CLN2 disease. It provides in-depth information on the genetics, clinical features, and inheritance patterns associated with this condition.
• Newfoundland and Labrador Association of Optometrists – Provides information about vision loss and eye damage associated with CLN2 disease, along with resources for managing and supporting individuals with visual impairments.

These resources and organizations are dedicated to enhancing the quality of life for individuals and families affected by CLN2 disease. By combining support, information, and advocacy efforts, they create a supportive network that promotes understanding, awareness, and improved care for those facing the challenges of this rare genetic disorder.

Research Studies from ClinicalTrialsgov

The ClinicalTrials.gov is a comprehensive catalog of research studies conducted by the National Institute of Health (NIH) and other organizations. It provides valuable information on various medical conditions, including CLN2 disease, a rare genetic disorder.

CLN2 Disease

CLN2 disease, also known as late-infantile neuronal ceroid lipofuscinosis (LINCL), is a rare neurodegenerative disorder. It is caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene, leading to the accumulation of lipofuscin in cells. This condition primarily affects children, with symptoms typically appearing between 2 and 4 years of age.

Incidence and Inheritance

CLN2 disease has a relatively low incidence, with an estimated frequency of 1 in 100,000 to 1 in 200,000 births. It follows an autosomal recessive inheritance pattern, meaning that both parents must be carriers of the mutated gene for a child to be affected.

Clinical Features

CLN2 disease is characterized by progressive neurological deterioration. Children with this condition may experience seizures, ataxia (loss of muscle coordination), cognitive decline, and vision loss. The disease typically worsens over time, with affected individuals becoming wheelchair-bound and dependent on others for daily activities. Life expectancy is usually reduced, with most individuals surviving until their late teens or early twenties.

Research Studies and ClinicalTrials.gov

ClinicalTrials.gov serves as a valuable resource for researchers, healthcare providers, and patients/families affected by CLN2 disease. It provides information on ongoing and completed research studies related to this condition, including clinical trials evaluating potential treatment options.

Research studies registered on ClinicalTrials.gov often aim to understand the underlying genetic and molecular mechanisms of CLN2 disease, identify new therapeutic approaches, and improve the quality of life for affected individuals. These studies may involve laboratory experiments, animal models, and human participants.

Advocacy and Support

The ClinicalTrials.gov website also provides information on patient advocacy groups, support networks, and resources for individuals affected by CLN2 disease. These organizations aim to raise awareness, provide emotional support, and facilitate access to medical and educational resources for patients and their families.

Additional Resources

For more information about CLN2 disease, genetic testing, and related research studies, you may visit the following resources:

• Genetics Home Reference (https://ghr.nlm.nih.gov/condition/lincl)
• The Online Mendelian Inheritance in Man (OMIM) database (https://www.omim.org/)
• PubMed (https://pubmed.ncbi.nlm.nih.gov/)

These resources provide scientific articles, genetic information, and other relevant publications on CLN2 disease and related conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and genes associated with them. OMIM stands for Online Mendelian Inheritance in Man, a database created and maintained by the National Center for Biotechnology Information (NCBI).

OMIM catalogs genes and genetic diseases, including the CLN2 disease. CLN2 disease, also known as late-infantile neuronal ceroid lipofuscinosis, is a rare genetic disorder that primarily affects children. It is characterized by the accumulation of lipofuscin, a fatty pigment, in cells throughout the body. This leads to progressive damage to the brain and vision loss. The disease is caused by mutations in the TPP1 gene, which codes for a protein called tripeptidyl peptidase 1.

The Catalog of Genes and Diseases from OMIM provides essential information on the genetic basis, inheritance patterns, clinical features, and more for various genetic conditions, including CLN2 disease. It also includes references to scientific research articles, clinical trials, and advocacy resources related to these diseases. The catalog can be used by researchers, clinicians, and patients to learn more about these conditions and find additional resources and support.

To learn more about CLN2 disease or other genetic conditions, you can visit the OMIM website or search for specific genes or diseases using their official names. The catalog provides information on the incidence and frequency of specific genetic diseases, as well as the genes associated with them. It also offers resources for genetic testing and clinical trials related to these conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various diseases, including CLN2 disease. It provides comprehensive information on genes, diseases, inheritance patterns, clinical features, and research resources. Researchers, clinicians, and patients can use this catalog to access up-to-date information and support for rare genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the CLN2 disease. Here are some articles you may find helpful:

• Halach et al.: This article discusses the clinical features and genetic testing for CLN2 disease. It provides information on the tripeptidyl peptidase 1 gene, which is associated with the condition.
• Ceroid Lipofuscinosis Neuronal 2 (CLN2): This article gives an overview of CLN2 disease, including its incidence, inheritance pattern, and symptoms. It also provides information on the genes associated with the condition.
• Additional Resources from the National Center for Biotechnology Information (NCBI): The NCBI provides additional resources on CLN2 disease, including genetic studies, clinical features, and support for patients and families.
• Rare Childhood Diseases: This article discusses the rarity of CLN2 disease and compares it to other rare childhood diseases. It highlights the importance of advocacy and support for families affected by CLN2 disease.
• Pearce et al.: This scientific article explores the vision loss associated with CLN2 disease. It discusses the causes and damage to cells in the eyes, comparing it to vision loss in other diseases.

For more scientific articles on CLN2 disease, you can search PubMed using keywords like “CLN2 disease”, “CLN2 gene”, or “late infantile neuronal ceroid lipofuscinosis”. References and additional information can also be found on websites such as OMIM and CLN2 Advocacy & Research.

It is important to stay informed about the latest research and discoveries related to CLN2 disease to support the patients and families affected by this rare childhood condition.

References

• ClinicalTrials.gov – Provides information on clinical trials related to CLN2 disease in childhood.
• PubMed – A database of scientific articles that can provide more information on the clinical features and genetic causes of CLN2 disease.
• Halac, et al. – A clinical study on the frequency and features of CLN2 disease in a pediatric neurology center.
• The CLN2 Advocacy & Family Support Group – Provides support and information for patients and families affected by CLN2 disease.
• The National Institute of Neurological Disorders and Stroke (NINDS) – Offers resources and information on CLN2 disease for patient advocacy and research.
• Pearce, et al. – A scientific article on the inheritance patterns and genetic causes of CLN2 disease.
• Genetics Home Reference – Provides a comprehensive catalog of information about genetic diseases, including CLN2 disease.
• Genet Med. – A scientific journal that publishes research on various genetic diseases, including CLN2 disease.
• Other names for CLN2 disease include late-infantile neuronal ceroid lipofuscinosis, and Spielmeyer-Vogt-Sjogren-Batten disease.
• Newfoundland and Labrador Rare Disease Foundation – Provides support and information about rare diseases, including CLN2 disease.
• OMIM – A database that provides information on the genetics and clinical features of various diseases, including CLN2 disease.
• Tripeptidyl peptidase 1 (TPP1) – The gene that is mutated in CLN2 disease, causing the buildup of lipofuscin in cells.