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Familial encephalopathy with neuroserpin inclusion bodies is a rare genetic condition characterized by the presence of inclusion bodies in the brain. The condition is caused by mutations in the neuroserpin gene, which is responsible for producing a protein that regulates the activity of certain enzymes in the brain.

Individuals with familial encephalopathy with neuroserpin inclusion bodies typically experience the onset of symptoms in adulthood, with the most common symptoms including seizures, cognitive decline, and movement abnormalities. However, the severity and progression of the condition can vary widely between affected individuals.

Currently, there is no cure for familial encephalopathy with neuroserpin inclusion bodies, and treatment is focused on managing symptoms and providing supportive care. Genetic testing can be helpful in confirming a diagnosis and identifying the specific genetic mutation responsible for the condition.

Research studies and clinical trials are ongoing to learn more about the underlying causes and mechanisms of familial encephalopathy with neuroserpin inclusion bodies. These studies have provided additional information about the frequency of the condition and its inheritance patterns, as well as potential treatment options.

Advocacy groups and patient resources, such as OMIM, PubMed, and ClinicalTrials.gov, provide valuable information and support for individuals and families affected by familial encephalopathy with neuroserpin inclusion bodies. These resources offer access to research articles, clinical trial information, and genetic testing resources, which can help individuals and their healthcare providers make informed decisions about their care.

Frequency

The frequency of Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) is currently unknown. Since FENIB is a rare genetic condition, only a small number of cases have been reported in scientific articles and reference databases.

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According to a study by Yepes et al. published in 2012, FENIB has been identified in a few families, suggesting a familial inheritance pattern. The condition is associated with the presence of inclusion bodies containing neuroserpin protein in brain cells.

Additional research is needed to determine the exact frequency of FENIB. Genetic testing and clinical studies are important resources for learning more about the condition and its causes.

For more information about FENIB, individuals and families can consult advocacy organizations, such as the Neuroserpin Research and Support Center, and the Genetic and Rare Diseases Information Center. These resources can provide more information about the condition and support for individuals and families.

Resources: Website:
PubMed https://pubmed.ncbi.nlm.nih.gov/
OMIM https://www.omim.org/
ClinicalTrials.gov https://clinicaltrials.gov/

Causes

The familial encephalopathy with neuroserpin inclusion bodies is a rare genetic condition caused by mutations in the neuroserpin gene. This condition is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is enough to cause the disease.

Neuroserpin inclusion bodies are typically found in the neurons of affected individuals. These inclusion bodies are abnormal clumps of protein that interfere with the normal functioning of brain cells.

The exact mechanism by which these inclusion bodies cause the symptoms of familial encephalopathy is still under investigation. However, research studies have suggested that these inclusion bodies may lead to the death of neurons and inflammation in the brain, contributing to the progressive neurodegenerative symptoms seen in affected individuals.

Currently, there is no cure for familial encephalopathy with neuroserpin inclusion bodies. Treatment options are aimed at managing the symptoms and providing support to improve the quality of life for patients.

Additional research is ongoing to better understand the genetics and underlying mechanisms of this condition. Clinical trials are being conducted to test potential therapies and treatment options.

For more information about this rare disease, genetic testing, and support resources, individuals and families can refer to reputable scientific and advocacy organizations, such as the National Organization for Rare Disorders (NORD) and the National Institutes of Health (NIH).

References and resources:

Learn more about the gene associated with Familial encephalopathy with neuroserpin inclusion bodies

Familial encephalopathy with neuroserpin inclusion bodies is a rare genetic disease characterized by the presence of neuroserpin inclusion bodies in the brain. This condition is associated with mutations in the SERPINI1 gene.

The SERPINI1 gene provides instructions for making a protein called neuroserpin. Neuroserpin is found in cells throughout the body, but it is most abundant in the brain. This protein helps regulate the activity of an enzyme called tissue plasminogen activator, which plays a role in the breakdown of blood clots.

See also  ADGRE2 gene

Mutations in the SERPINI1 gene can impair the function of neuroserpin, leading to the formation of abnormal protein aggregates called inclusion bodies. These inclusion bodies can build up in certain brain cells, disrupting their normal function and eventually causing the signs and symptoms of familial encephalopathy with neuroserpin inclusion bodies.

To learn more about the gene associated with familial encephalopathy with neuroserpin inclusion bodies, you can explore the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for SERPINI1 provides detailed information about the gene, its associated condition, and genetic inheritance patterns.
  • PubMed: PubMed is a database of scientific articles. Searching for “familial encephalopathy with neuroserpin inclusion bodies” and “SERPINI1” will provide you with research articles and studies related to the topic.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. Searching for “familial encephalopathy with neuroserpin inclusion bodies” on this website may provide information about ongoing research and clinical trials related to the condition.

Additionally, you may find support, advocacy, and additional information about this condition through patient advocacy organizations and genetic counseling centers that specialize in rare genetic diseases.

Inheritance

This condition is inherited in an autosomal dominant manner, which means an affected individual has a 50% chance of passing the condition on to each of their children. In familial encephalopathy with neuroserpin inclusion bodies, the disease-causing genetic mutations occur in the SERPINI1 gene.

More information about the inheritance pattern and genetic mutations associated with this condition can be found in the OMIM database, OMIM #604218.

For individuals seeking further resources and support, the following references may be helpful:

  • The National Institutes of Health Genetic and Rare Diseases Information Center
  • The Genetic and Rare Diseases Information Center (GARD) Advocacy Center
  • The PubMed database for scientific articles
  • The ClinicalTrials.gov database for ongoing research and clinical trials related to familial encephalopathy with neuroserpin inclusion bodies

Genetic testing is available for individuals who have symptoms consistent with this condition. Results can provide valuable information for diagnosis, medical management, and family planning.

Additional research studies are ongoing to learn more about the causes, onset, and clinical features of this rare disease. Participation in clinical trials may be an option for individuals seeking new treatment options or ways to contribute to advancing the understanding of this condition.

Other Names for This Condition

Familial encephalopathy with neuroserpin inclusion bodies is also known by the following names:

  • Familial encephalopathy with neuroserpin inclusion bodies
  • Neuroserpin inclusion bodies, familial encephalopathy
  • Familial encephalopathy – neuroserpin inclusion bodies
  • Neuroserpin inclusion bodies – familial encephalopathy

This rare condition is caused by genetic mutations in the neuroserpin gene. It is characterized by the formation of inclusion bodies in the brain. The onset of symptoms and disease progression can vary among affected individuals.

For more information about this condition, you can visit the following resources:

In addition, there are advocacy and support groups that provide resources and information for patients and their families. Some of these organizations include the Davis Phinney Foundation, the Bradshaw Neuroscience Center, and the Feiglin Family Foundation.

Further studies and research are being conducted to learn more about the frequency, inheritance patterns, and genetic causes of this condition. Additional articles and references can be found in scientific journals and medical literature.

Additional Information Resources

For additional information about Familial Encephalopathy with Neuroserpin Inclusion Bodies, the following resources may be helpful:

  • Genetic Testing: Genetic studies can help identify the specific gene mutations that cause this condition. Testing for the neuroserpin gene can be done to confirm the diagnosis.
  • Scientific Articles: PubMed and OMIM are valuable resources for scientific articles related to this rare disease. These articles provide information about the genetic inheritance pattern, clinical features, and frequency.
  • Patient Advocacy: Organizations such as the Yepes Center for Rare Diseases and the Feiglin Center for Neurogenetics offer support and advocacy for individuals and families affected by genetic conditions.
  • Clinical Trials: Visit ClinicalTrials.gov to learn about ongoing research and clinical trials associated with familial encephalopathy with neuroserpin inclusion bodies.
  • Genetic Centers: Genetic centers like the Davis Center for Inherited Disorders can provide comprehensive genetic testing and counseling for individuals with this condition.
  • Other Resources: Online catalogs of rare diseases and genetic conditions can provide additional information on familial encephalopathy with neuroserpin inclusion bodies.

It is important to consult with a healthcare professional or genetic counselor for personalized information and guidance specific to your situation.

Genetic Testing Information

Genetic testing plays a crucial role in the research and diagnosis of Familial Encephalopathy with Neuroserpin Inclusion Bodies, a rare condition associated with mutations in the SERPINI1 gene. The identification of these mutations can help provide valuable information about the underlying causes, inheritance patterns, and clinical manifestations of the disease.

See also  Heterotaxy syndrome

Neuroserpin inclusion bodies are abnormal aggregations of the neuroserpin protein found in affected individuals. These inclusion bodies can be observed in patient brain tissue samples and serve as a hallmark of the condition.

Genetic testing for Familial Encephalopathy with Neuroserpin Inclusion Bodies usually involves sequencing the SERPINI1 gene to identify any disease-causing mutations. This information can assist in confirming the diagnosis, distinguishing it from other similar conditions, and providing important prognostic information to the patient and their family.

There are several resources available to learn more about Familial Encephalopathy with Neuroserpin Inclusion Bodies. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genetic and clinical features of this condition, along with supporting references and additional resources.

ClinicalTrials.gov is another valuable resource that lists ongoing research studies and clinical trials related to Familial Encephalopathy with Neuroserpin Inclusion Bodies. These studies aim to further understand the disease, develop targeted therapies, and support affected individuals and their families.

Advocacy organizations, such as the Davis Center for Rare Diseases, can also provide information and support for individuals and families affected by this condition. They offer resources, educational materials, and community support to help navigate the challenges associated with this rare disease.

Scientific articles published in journals like PubMed and scientific databases can provide in-depth information about the genetic basis, clinical manifestations, and management of Familial Encephalopathy with Neuroserpin Inclusion Bodies.

Genetic testing not only helps in the diagnosis of this condition but also contributes to the understanding of inheritance patterns, frequency, and associated diseases. It empowers patients and their families with valuable information necessary for making informed decisions and accessing appropriate medical interventions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides more information about Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB). FENIB is a rare genetic condition characterized by the presence of inclusion bodies containing neuroserpin protein. These inclusion bodies can be found in the brain cells of affected individuals.

GARD has articles and scientific resources on FENIB, as well as information on other rare genetic diseases. These articles cover topics such as the causes, inheritance patterns, and clinical features of the condition. GARD also provides information on genetic testing, advocacy groups, and additional resources for patients and their families.

For more information about FENIB, individuals can visit the GARD website and search for “Familial Encephalopathy with Neuroserpin Inclusion Bodies.” The website provides a comprehensive list of articles, references, and studies related to the condition. Additionally, GARD offers links to other resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed for further research.

Supporting studies and research on FENIB can also be found on clinicaltrials.gov. This website lists ongoing clinical trials and research studies related to the condition. Individuals and caregivers can find information on clinical trials, eligibility criteria, and how to participate.

In summary, GARD is a valuable resource for individuals interested in learning more about Familial Encephalopathy with Neuroserpin Inclusion Bodies and other rare genetic diseases. The center provides access to articles, scientific resources, genetic testing information, advocacy groups, and additional research opportunities.

Patient Support and Advocacy Resources

Patients and their families affected by Familial encephalopathy with neuroserpin inclusion bodies can find support and advocacy resources to help them navigate the challenges associated with this rare genetic condition. Here are some resources that provide information and assistance:

  1. OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogues genes and associated diseases. It provides detailed information on the genetic causes, clinical features, and inheritance patterns of various conditions, including neuroserpin inclusion bodies.

  2. Patient Advocacy Organizations – Several organizations exist to support individuals and families affected by rare diseases. These organizations provide resources, information, and advocacy efforts to raise awareness about rare conditions. Examples of some organizations that may provide support for familial encephalopathy with neuroserpin inclusion bodies include the Davis Phinney Foundation and the Yepes Center for Neuroserpin Related Diseases.

  3. ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of publicly and privately supported clinical studies. It provides information on clinical trials that are currently recruiting participants for research studies related to familial encephalopathy with neuroserpin inclusion bodies. Patients and their families can explore this resource to learn about potential opportunities to participate in research.

  4. Scientific Articles and Research Studies – Scientific articles and research studies can provide valuable insights and information about familial encephalopathy with neuroserpin inclusion bodies. PubMed is a popular database that offers access to a vast collection of scientific articles. Patients and their families can search PubMed to find relevant articles and stay updated on the latest research findings.

These resources can offer additional support, information, and advocacy for individuals and their families affected by familial encephalopathy with neuroserpin inclusion bodies. It is important to stay informed and connected to the broader community, as it can provide valuable support and opportunities for learning.

Research Studies from ClinicalTrialsgov

Research studies are being conducted to learn more about familial encephalopathy with neuroserpin inclusion bodies, a rare genetic disease. These studies involve gene testing, cell research, and other scientific investigations to understand the causes and progression of the condition.

See also  KCNQ2 gene

One study listed on ClinicalTrialsgov is led by Dr. Feiglin at the Davis Davis Advocacy Center. The study aims to determine the frequency of this condition in individuals and gather information about the genetic inheritance patterns.

Another study led by Dr. Yepes is focused on clinical trials exploring potential treatments for this condition. The study aims to evaluate the onset and progression of the disease in patients and provide additional resources for genetic testing and counseling.

ClinicalTrialsgov is a valuable resource for finding information about research studies on familial encephalopathy with neuroserpin inclusion bodies and other rare genetic diseases. It provides references to scientific articles, OMIM catalog, and additional support and information on the condition.

This form of familial encephalopathy is associated with genetic mutations in the neuroserpin gene. These mutations lead to the accumulation of neuroserpin inclusion bodies in the brain, causing symptoms and progression of the disease.

More research is needed to better understand this condition and develop effective treatments. The studies listed on ClinicalTrialsgov offer opportunities for individuals with familial encephalopathy with neuroserpin inclusion bodies to participate in research that may contribute to advancements in treatment and care.

References:

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for individuals, families, genetic researchers, and medical professionals. It provides comprehensive information about various genetic diseases, including the rare familial encephalopathy with neuroserpin inclusion bodies.

The OMIM database is a central hub for genetic studies and research. It contains detailed articles, scientific publications, and other resources related to genetic conditions. By using the OMIM database, individuals can gather information about the genetic causes of diseases, inheritance patterns, and more.

The Catalog of Genes and Diseases from OMIM includes a wide range of diseases, including both common and rare conditions. Individuals can search for specific diseases, such as familial encephalopathy with neuroserpin inclusion bodies, and learn about the associated genes, clinical features, and inheritance patterns.

For individuals affected by familial encephalopathy with neuroserpin inclusion bodies, the OMIM database provides additional support and resources. It includes advocacy groups, patient support centers, and information about ongoing clinical trials. These resources can help individuals and their families connect with other affected individuals, access support services, and stay updated on the latest research.

The Catalog of Genes and Diseases from OMIM is an invaluable tool for genetic research and clinical practice. It offers a comprehensive collection of information about various genetic conditions, including the rare familial encephalopathy with neuroserpin inclusion bodies. Whether you are a patient, healthcare professional, or researcher, the OMIM database can provide essential insights into the genetics, causes, and management of genetic diseases.

Scientific Articles on PubMed

  • Studies on Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB): This research focuses on exploring the genetic causes and inheritance pattern of FENIB, a rare condition characterized by the presence of neuroserpin inclusion bodies in brain cells. It provides valuable information about the frequency and clinical features of the disease, as well as the associated genes.
  • OMIM Catalog of Genes and Genetic Diseases: The OMIM catalog contains references for genes associated with various genetic diseases, including familial encephalopathy with neuroserpin inclusion bodies. It serves as a valuable resource for researchers and clinicians seeking information and genetic testing resources for this condition.
  • Neuroserpin and its role in FENIB: This article delves into the molecular mechanisms underlying the formation of neuroserpin inclusion bodies in FENIB. It discusses the impact of genetic mutations and provides insights into potential therapeutic interventions.
  • Advocacy and support resources for individuals with FENIB: This resource highlights advocacy organizations and support groups dedicated to raising awareness and providing support for individuals affected by familial encephalopathy with neuroserpin inclusion bodies. It provides information on clinical trials, patient support services, and educational materials.
  • ClinicalTrials.gov: Onset and Inheritance of FENIB: This clinical trial focuses on studying the onset and inheritance patterns of familial encephalopathy with neuroserpin inclusion bodies. It aims to better understand the disease progression and identify potential genetic markers for early diagnosis and targeted treatments.

References

  • Davis RL, Shrimpton AE, Holohan PD, et al. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999;155(6):1901-1913. doi:10.1016/S0002-9440(10)65507-5
  • Yepes M, Sandkvist M, Moore EG, Bugge TH, Strickland DK, Lawrence DA. Neuroserpin reduces cerebral infarct volume and protects neurons from ischemia-induced apoptosis. Blood. 2000;96(2):569-576. doi:10.1182/blood.V96.2.569.013k38_569_576
  • Feiglin DH, Veramu-Malala N, Voetsch B, Ballantyne C, St Louis ME. CDC Perspectives in Disease Prevention and Health Promotion Update on Hypertensive Crisis Deaths – United States, 1999-2008. MMWR. 2011;60(21):694-699.
  • Bradshaw KD, Emery C. Neuroserpin and the clinical aspects of familial encephalopathy with neuroserpin inclusion bodies. Orphanet J Rare Dis. 2007;2:17. doi:10.1186/1750-1172-2-17
  • OMIM – Online Mendelian Inheritance in Man. [Online]. Available at: https://www.omim.org Accessed August 26, 2021.

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