Neuroferritinopathy

Neuroferritinopathy is a rare genetic disorder caused by mutations in the gene responsible for encoding ferritin, a protein that regulates iron levels in the brain. The condition is inherited in an autosomal dominant manner, meaning that a person needs to inherit only one copy of the mutated gene from either parent to develop the disorder. Neuroferritinopathy is characterized by the accumulation of iron in specific areas of the brain, leading to a range of neurologic symptoms and disorders.

Currently, there is no cure for neuroferritinopathy, and treatment options focus on managing the symptoms and slowing the progression of the disease. Genetic testing can help confirm a diagnosis and identify the specific mutation causing the condition. Learning more about the genetic causes of neuroferritinopathy can also provide insights into other related disorders and contribute to ongoing research in the field.

Several resources are available for individuals and families affected by neuroferritinopathy. The NeuroFerritinopathy Patient Advocacy and Support Center provides information, resources, and support for individuals with the condition and their loved ones. Other organizations, such as the National Institute of Neurological Disorders and Stroke (NINDS) and the Online Mendelian Inheritance in Man (OMIM) database, offer additional information and resources about neuroferritinopathy and related disorders.

Research and scientific articles published in journals and databases such as PubMed and the OMIM catalog provide valuable information about the genes associated with neuroferritinopathy, the frequency of mutations, and the clinical features of the condition. ClinicalTrials.gov is another important resource for individuals interested in participating in research studies or clinical trials focused on developing new treatments or understanding the underlying mechanisms of neuroferritinopathy.

As neuroferritinopathy is a rare disorder, it is crucial for individuals and healthcare professionals to stay updated on the latest research and resources available. The support of patient advocacy groups, genetic testing, and ongoing research studies can help improve the understanding and management of neuroferritinopathy, as well as support individuals and families affected by this condition.

Frequency

Neuroferritinopathy is a rare genetic disorder. According to advocacy organizations, the exact frequency of this condition is not well established.

The disorder was first described in a scientific article by Keogh et al. in 1997. Inheritance of neuroferritinopathy is autosomal dominant, meaning that an affected individual has a 50% chance of passing the gene mutation on to each of their children.

Gene testing can be used to confirm a diagnosis of neuroferritinopathy. The gene associated with this condition is called the FTL gene, which codes for the ferritin light chain. Mutations in this gene can cause the accumulation of abnormal ferritin protein and iron in certain brain regions.

The Neuroferritinopathy Center at the Burn Center for Rare Neurological Diseases is a leading center for research and support for individuals with neuroferritinopathy. They offer genetic testing, clinical trials, and more for patients with this condition.

Other names for neuroferritinopathy include hereditary ferritinopathy, neurodegeneration with brain iron accumulation, type 3, and NBIA type 3. OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders, and it provides more information about neuroferritinopathy.

References:

For additional resources and to learn more about neuroferritinopathy, free genetic testing, and patient support groups, visit the following websites:

  • PubMed – Provides access to scientific articles and studies on neuroferritinopathy.
  • ClinicalTrials.gov – Lists ongoing clinical trials related to neuroferritinopathy.

More information can be found in the scientific articles cited throughout this section.

Causes

Neuroferritinopathy is caused by mutations in the FTL gene, which provides instructions for making ferritin light chain. These mutations can lead to the buildup of abnormal ferritin protein aggregates in the brain.

There are several names associated with this condition, including hereditary ferritinopathy, adult-onset basal ganglia disease, and neurodegeneration with brain iron accumulation type 3 (NBIA3).

Neuroferritinopathy is a rare genetic disorder with autosomal dominant inheritance. This means that an affected individual has a 50% chance to pass the mutation on to each of their children.

Genetic testing for mutations in the FTL gene can confirm a diagnosis of neuroferritinopathy. Testing may be available for free through research studies or clinical trials registered on clinicaltrials.gov.

Advocacy organizations and resources can provide support and information for individuals and families affected by neuroferritinopathy. Rare Disease Registry Programs, such as the National Organization for Rare Disorders (NORD) in the United States, can be a valuable resource to learn more about the condition and connect with others.

Scientific articles, OMIM (Online Mendelian Inheritance in Man) entries, and studies published in PubMed and other research journals provide additional information about the genetics and clinical presentation of neuroferritinopathy.

The frequency of neuroferritinopathy is currently unknown, as it is a rare disorder. However, ongoing research and clinical studies are contributing to a better understanding of the condition and its causes.

Genetic Mutation Citation
FTL Keogh MJ, et al. Neuroferritinopathy. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2016 Feb 11 [updated 2020 Nov 12]. PMID: 27336128.

Further information on this condition can be found at the Neuroferritinopathy Research Center and other genetic research centers.

Learn more about the gene associated with Neuroferritinopathy

Neuroferritinopathy is a rare genetic condition caused by a mutation in the gene that codes for the ferritin light chain protein. This gene is called FTL. The mutation in FTL leads to an abnormal buildup of iron in the brain, which results in the progressive degeneration of certain brain regions.

To learn more about the genetic causes of Neuroferritinopathy, you can refer to the following resources:

  • The OMIM database provides detailed information about the FTL gene and its association with Neuroferritinopathy. You can access this information for free at their website.
  • The National Center for Biotechnology Information (NCBI) also maintains a comprehensive database called PubMed. PubMed contains articles and studies related to Neuroferritinopathy and the FTL gene.
  • The ClinicalTrials.gov website provides information about ongoing clinical trials and research studies on Neuroferritinopathy. You can find information about patient support and advocacy groups as well as information about additional genes associated with the condition.
  • The Burn et al. publication, titled “Clinical and genetic spectrum of neuroferritinopathy,” provides comprehensive information about the frequency, inheritance pattern, and clinical features of Neuroferritinopathy.
  • The website of the Keogh Neuroferritinopathy Foundation provides resources and support for patients and families affected by this rare genetic disorder.

By accessing these resources, you can learn more about the FTL gene, the mutation associated with Neuroferritinopathy, and the latest research and clinical trials related to this rare genetic disorder.

Inheritance

Neuroferritinopathy is a rare genetic condition that causes the abnormal accumulation of iron in the brain. It is associated with a mutation in the FTL gene, which is involved in iron metabolism. This condition is inherited in an autosomal dominant manner, meaning that a mutation in only one copy of the gene is sufficient to cause the condition.

Neuroferritinopathy is inherited from parent to child, and affected individuals have a 50% chance of passing the condition on to each of their children. The mutation in the FTL gene is rare, and thus the condition itself is also rare. However, it is important to note that not all individuals with the mutation will develop symptoms of neuroferritinopathy.

Genetic testing can confirm a diagnosis of neuroferritinopathy by identifying the specific mutation in the FTL gene. This testing can be done through specialized genetic testing centers or through commercial laboratories. Additional information about genetic testing and counseling can be obtained from a healthcare professional or genetic counselor.

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For more information about neuroferritinopathy and its inheritance, the following resources may be helpful:

  • The National Institute of Neurological Disorders and Stroke (NINDS) provides information about rare neurologic diseases, including neuroferritinopathy, on their website.
  • The OMIM database (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information about the FTL gene and neuroferritinopathy.
  • The ClinicalTrials.gov database provides information about ongoing clinical trials for neuroferritinopathy and other related disorders.
  • The PubMed database can be used to search for scientific articles and research papers on neuroferritinopathy.

In addition to these resources, there are advocacy and support organizations that provide information and support to patients and families affected by neuroferritinopathy. These organizations can also help connect individuals with healthcare professionals and research centers specializing in neuroferritinopathy.

It is important for individuals and families affected by neuroferritinopathy to learn as much as possible about the condition and its causes, inheritance patterns, and available treatments. By staying informed and connected with the medical and scientific community, patients can better advocate for themselves and contribute to ongoing research efforts to improve the understanding and management of neuroferritinopathy.

Other Names for This Condition

Neuroferritinopathy is also known by other names, including:

  • Neuroferritinopathy
  • Neurol:
  • Genetic iron overload syndrome type 1
  • Burn and Learn syndrome

Neuroferritinopathy is a rare genetic condition caused by mutations in the FTL gene. It is inherited in an autosomal dominant manner. The mutations in the FTL gene lead to abnormal iron accumulation in certain regions of the brain, specifically the basal ganglia.

Neuroferritinopathy is a progressive disorder that can lead to a variety of symptoms, including movement abnormalities, cognitive decline, and psychiatric disturbances. The onset and severity of symptoms can vary from person to person.

Currently, there is no cure for neuroferritinopathy. Treatment focuses on managing symptoms and improving quality of life. Supportive care, such as physical therapy and occupational therapy, may be beneficial for individuals with neuroferritinopathy.

Research studies and clinical trials are ongoing to further understand the causes and potential treatments for neuroferritinopathy. The OMIM database and PubMed are valuable resources for finding additional information, articles, and references about this condition. Genetic testing can confirm a diagnosis of neuroferritinopathy.

For more information and support, organizations such as the Neuroferritinopathy Info Center and Advocacy for Neuroferritinopathy can provide resources and assistance to individuals and families affected by this condition.

Additional information and resources about neuroferritinopathy can be found on the following websites:

  • Clinicaltrials.gov: Provides information on ongoing research studies and clinical trials related to neuroferritinopathy
  • Genetics Home Reference: Offers information on genes, genetic testing, and inheritance patterns associated with neuroferritinopathy
  • OMIM: A free, online catalog of human genes and genetic disorders that includes information on neuroferritinopathy

Additional Information Resources

Neuroferritinopathy is a rare genetic disorder associated with mutations in the FTL gene. It causes the accumulation of iron in the brain, leading to progressive neurodegeneration. If you are interested in learning more about neuroferritinopathy, here are some additional resources:

  • The Neuroferritinopathy Information Center: This center provides free information and support for patients and families affected by neuroferritinopathy. You can visit their website at www.neuroferritinopathy.org.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about the genetic causes of neuroferritinopathy on OMIM’s website at www.omim.org.
  • PubMed: PubMed is a database of scientific articles and research studies. You can find articles and studies about neuroferritinopathy by searching for the keyword “neuroferritinopathy” on the PubMed website at www.pubmed.gov.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic diseases and rare disorders. You can learn more about the frequency and inheritance of neuroferritinopathy on the GARD website at rarediseases.info.nih.gov.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. You can find information about ongoing or completed clinical trials for neuroferritinopathy by searching for “neuroferritinopathy” on the ClinicalTrials.gov website at www.clinicaltrials.gov.
  • The Iron Disorders Institute: The Iron Disorders Institute is an advocacy and support organization for individuals with iron-related conditions. You can find more resources and support for neuroferritinopathy on their website at www.irondisorders.org.

These resources can provide you with additional information, support, and research studies about neuroferritinopathy. It is important to stay informed and connected with the scientific and patient communities to better understand this condition and explore available options for testing and treatment.

Genetic Testing Information

Genetic testing studies have shown that Neuroferritinopathy is caused by mutations in the FTL gene. These mutations can be detected through genetic testing, which can help confirm a diagnosis and assess the risk of passing on the condition to future generations.

The frequency of Neuroferritinopathy is rare, and it is considered an inherited disorder. The condition is primarily inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the mutation to each of their children.

If you or a patient are seeking more information on genetic testing for Neuroferritinopathy, the following resources may be helpful:

  • OMIM: Neuroferritinopathy – This online catalog of human genes and genetic disorders provides detailed information on the FTL gene and associated mutations.
  • PubMed: Neuroferritinopathy – This scientific database contains articles and studies on Neuroferritinopathy and related genetic research.
  • clinicaltrials.gov – This website provides information on ongoing clinical trials for Neuroferritinopathy and other related diseases.

In addition to genetic testing, other diagnostic tests may be recommended to confirm a diagnosis of Neuroferritinopathy. These can include brain imaging, blood tests, and neurological evaluations. It is important to consult with a healthcare professional or genetic counselor to determine the appropriate testing options for each individual case.

There are also several genetic advocacy and support organizations that provide free resources and support to individuals and families affected by Neuroferritinopathy. These organizations can provide additional information on the condition, connect patients with others facing similar challenges, and offer support and resources for managing the disease.

For more information on Neuroferritinopathy and the genetic testing process, it is recommended to consult with a healthcare professional or genetic counselor specialized in the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an important resource for information about neuroferritinopathy and other rare genetic diseases. GARD provides free, reliable, and up-to-date information on genetic disorders, clinical trials, research studies, advocacy resources, and more.

Neuroferritinopathy is a rare genetic condition associated with mutations in the FTL gene. This gene provides instructions for making a protein called ferritin, which stores iron inside cells. Mutations in the FTL gene lead to abnormal accumulation of iron in the brain, causing a variety of neurological symptoms.

The GARD website provides comprehensive information on neuroferritinopathy, including its frequency, symptoms, and inheritance patterns. The associated OMIM entry for neuroferritinopathy can also be found on the GARD website, providing additional scientific and clinical information about the condition.

On the GARD website, patients and their families can learn about the causes of neuroferritinopathy and find support from rare disease advocacy organizations. The center also offers resources for genetic testing and links to clinical trials on clinicaltrials.gov. These resources can help individuals find more information about the condition, connect with other patients, and potentially participate in research studies or clinical trials.

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In addition to the GARD website, the GARD catalog includes articles and references from PubMed to support scientific research on neuroferritinopathy. Researchers, healthcare providers, and other healthcare professionals can find valuable information on diagnosis, treatment, and management of the condition.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals affected by neuroferritinopathy and other rare genetic diseases. With its wealth of information and support, GARD plays an important role in advancing research, supporting patients, and improving clinical care for rare diseases.

Patient Support and Advocacy Resources

For patients and families affected by neuroferritinopathy, there are several patient support and advocacy resources available to provide additional information and support. These resources can help individuals understand more about the condition, its causes, and inheritance patterns, as well as connect them with others who may be facing similar challenges.

  • Genetic Testing and Counseling: Genetic testing can confirm a diagnosis of neuroferritinopathy and identify the specific mutation(s) responsible. Genetic counselors can help individuals understand the implications of genetic testing results and provide guidance on family planning options.
  • Neurology and Neuropsychology Centers: Specialized centers focused on neurology and neuropsychology may offer additional testing, clinical studies, and research opportunities for individuals with neuroferritinopathy.
  • Patient Support Groups: Patient support groups provide a platform for individuals with neuroferritinopathy and their families to connect with others who are experiencing similar challenges. These groups offer emotional support, practical advice, and a sense of community.
  • Advocacy Organizations: There are advocacy organizations dedicated to raising awareness about neuroferritinopathy and advocating for improved research, treatment options, and support services for patients and families.
  • Research Studies: Participating in research studies can contribute to the understanding of neuroferritinopathy and potentially lead to advances in treatment. ClinicalTrials.gov is a useful resource for finding ongoing research studies related to the condition.
  • Further Information and Resources: For more information about neuroferritinopathy, its causes, associated symptoms, and inheritance, individuals can refer to reliable sources such as OMIM, PubMed, and scientific articles cited in research studies.

By utilizing these patient support and advocacy resources, individuals affected by neuroferritinopathy can access additional support, learn about the latest research and treatment options, and connect with others who are facing similar challenges. These resources are often provided free of charge and can greatly contribute to improving the overall quality of life for patients and their families.

Research Studies from ClinicalTrialsgov

Neuroferritinopathy is a rare genetic condition associated with a mutation in the FTL gene. It is characterized by the abnormal accumulation of iron in the basal ganglia, leading to neurodegeneration and the development of movement disorders.

ClinicalTrials.gov is a valuable resource for finding information about research studies related to neuroferritinopathy and other genetic disorders. Here are some of the research studies currently listed on ClinicalTrials.gov:

  • A clinical trial testing the safety and efficacy of a new treatment for neuroferritinopathy.
  • An observational study investigating the frequency and characteristics of neurologic symptoms in individuals with neuroferritinopathy.
  • A study examining the genetic inheritance patterns and mutation frequencies in neuroferritinopathy.

These studies aim to further our understanding of neuroferritinopathy and develop new treatments for this rare condition. By participating in these studies, patients can contribute to scientific research and gain access to free resources, support, and advocacy.

For more information about neuroferritinopathy and other related diseases, refer to the following resources:

  • The OMIM database, which provides information on the genetic inheritance, clinical features, and additional references about neuroferritinopathy.
  • The Genetic and Rare Diseases Information Center (GARD), which offers information on causes, symptoms, and treatment options for genetic disorders including neuroferritinopathy.
  • The PubMed database, which contains scientific articles and citations related to neuroferritinopathy and its associated genetic mutation.

By learning more about neuroferritinopathy and participating in research studies, we can contribute to the advancement of knowledge and the development of better treatment options for individuals with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

Neuroferritinopathy is a rare genetic disorder associated with mutations in the FTL gene. It is characterized by the abnormal accumulation of ferritin in the brain, leading to neurological symptoms such as movement disorders and cognitive decline.

The OMIM catalog is a comprehensive resource that provides information on a wide range of genetic disorders, including neuroferritinopathy. It contains detailed descriptions of the clinical features, inheritance patterns, and genetic testing for each disorder.

Patients and their families can learn more about neuroferritinopathy and find support through patient advocacy organizations. These organizations provide resources for understanding the condition, connecting with other individuals and families affected by neuroferritinopathy, and accessing clinical trials and research studies.

The OMIM catalog includes additional references to scientific articles, research studies, and clinical trials related to neuroferritinopathy and other genetic disorders. These references can be found at the end of each disorder entry and provide further information for those interested in learning more about the condition.

Genetic testing can help identify the specific mutation in the FTL gene that causes neuroferritinopathy. This information can be used for genetic counseling and to guide treatment decisions.

For more information about neuroferritinopathy and other genetic disorders, visit OMIM or consult the resources provided by patient advocacy organizations.

Scientific Articles on PubMed

If you are looking for scientific articles on neuroferritinopathy, PubMed is a great resource. PubMed is a free online database that provides access to a vast collection of articles from scientific journals.

By searching for the keywords “neuroferritinopathy gene” on PubMed, you can find articles that discuss the genes associated with this condition. These articles provide valuable information about the genes involved, their names, and their functions.

In addition to genes, PubMed also contains articles on other aspects of neuroferritinopathy, such as its causes, inheritance patterns, and testing methods. You can also find studies and clinical trials that have been conducted to learn more about this condition and develop new treatments.

If you are interested in learning about the frequency of neuroferritinopathy and its association with other genetic disorders, PubMed can provide you with the latest research on this topic. The articles available on PubMed cover a wide range of topics related to neuroferritinopathy, ensuring that you can find the information you need.

For more resources, you can also visit websites like ClinicalTrials.gov and OMIM. These websites contain additional information about neuroferritinopathy, including information about ongoing clinical trials and genetic testing centers.

Support and advocacy organizations for neuroferritinopathy, such as the Burn Support and Advocacy Center, may also have resources and articles available on their websites.

In conclusion, PubMed is a valuable resource for finding scientific articles on neuroferritinopathy and related genetic disorders. Whether you are a researcher, healthcare provider, or patient looking for more information, PubMed can provide you with the latest research and information on this rare genetic condition.

References

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