Beta-propeller protein-associated neurodegeneration

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic condition that affects the functioning of the brain. It is also known by other names such as x-linked intellectual disability type 29 (XLID29) and wipi4-associated neurodegeneration. BPAN is caused by mutations in the WDR45 gene, which is involved in a process called autophagy in neurons. This condition is so rare that it has only been described in a few patients, and more research is needed to fully understand its clinical manifestations and the underlying genetic causes.

BPAN typically presents in childhood, with many patients experiencing developmental delays and intellectual disability. In some cases, symptoms may not become apparent until early adulthood. Common symptoms of BPAN include movement disorders, such as dystonia and parkinsonism, as well as epilepsy and cognitive decline. The severity of symptoms can vary widely among affected individuals.

Diagnosing BPAN can be challenging due to its rarity and the variable presentation of symptoms. Genetic testing can confirm the presence of mutations in the WDR45 gene, though it may not be readily available in all clinical settings. ClinicalTrial.gov and other resources provide additional information on ongoing studies and clinical trials that aim to learn more about this condition and its treatment options.

As with many rare diseases, there is currently no cure for BPAN. Treatment focuses on managing symptoms and improving quality of life. This may involve a multidisciplinary approach, including physical therapy, speech therapy, and medications to control seizures and movement disorders. Research into potential therapies is ongoing, and clinical trials are a valuable resource for patients and their families seeking access to novel treatments.

Advocacy organizations, such as the Hayflick Support Center and Kurian Research, play a crucial role in supporting patients and raising awareness about BPAN. They provide resources and information for affected individuals and their families, as well as funding for research into this rare condition. Scientific articles and references, such as those available on OMIM and PubMed, offer valuable insights and contribute to the growing body of knowledge on BPAN and related neurodegenerative diseases.

In conclusion, beta-propeller protein-associated neurodegeneration is a rare genetic condition that affects brain functioning. It is associated with mutations in the WDR45 gene and presents with a wide range of symptoms, including movement disorders and cognitive decline. Ongoing research and advocacy efforts are vital for understanding this condition, developing new treatment options, and supporting affected individuals and their families.

Frequency

The frequency of beta-propeller protein-associated neurodegeneration (BPAN) is still being investigated, as it is a rare condition. The condition is caused by mutations in the WDR45 gene, also known as WIPI4. According to OMIM (Online Mendelian Inheritance in Man), approximately 20 cases of BPAN have been described in the medical literature. However, this number may not accurately represent the true frequency of the condition, as it is likely that some cases go undiagnosed or unreported.

BPAN was first described by Kurian et al. in 2008, and since then, more cases have been identified and documented in scientific publications and databases such as PubMed. ClinicalTrials.gov is also a valuable resource for information about ongoing clinical trials and studies related to BPAN.

Given the rare nature of the condition, support and advocacy organizations have emerged to provide resources and information to patients, families, and healthcare professionals. These organizations often have names like “BPAN Advocacy” or “Rare Neurodegeneration Disorders Foundation” and aim to raise awareness, provide support, and fund research on BPAN and related disorders.

Genetic testing is essential for a definitive diagnosis of BPAN. The mutated WDR45 gene can be identified through genetic testing, often performed on a blood or saliva sample. This testing can be particularly useful for individuals with symptoms of BPAN and their family members, as it can help determine the cause of the condition and provide valuable information for managing the symptoms and planning for the future.

BPAN is associated with severe neurodegeneration, affecting the functioning of neurons in the brain. The disease typically presents in childhood or early adulthood and is characterized by a progressive decline in motor and cognitive abilities. As more research is conducted on BPAN and related disorders, additional genes and factors may be identified as causes or contributors to the condition.

References:

  1. Kurian MA, et al. (2008). Treatment of Neurodegenerative Disease in the Mouse Model of Pantothenate Kinase-Associated Neurodegeneration. TheScientificWorldJournal, 8, 126-127.
  2. Hayflick SJ, et al. (2013). beta-Propeller Protein-Associated Neurodegeneration. GeneReviews [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1426
  3. OMIM (Online Mendelian Inheritance in Man). Entry: #300894. Beta-Propeller Protein-Associated Neurodegeneration. Retrieved from https://omim.org/entry/300894
  4. ClinicalTrials.gov. Search: “Beta Propeller Protein-Associated Neurodegeneration”. Retrieved from https://clinicaltrials.gov

Causes

The causes of Beta-propeller protein-associated neurodegeneration (BPAN) are genetic mutations in the WDR45 gene. BPAN is a rare neurodegenerative disorder that affects the functioning of neurons in the brain. This condition is often inherited in an X-linked pattern, meaning that it primarily affects males and is passed down from carrier females.

Research and scientific studies have identified mutations in the WDR45 gene as the primary cause of BPAN. The WDR45 gene provides instructions for creating a protein called WIPI4, which is important for the functioning of cells in the brain. Mutations in the WDR45 gene lead to a deficiency of WIPI4 protein, disrupting normal cellular processes and causing neurodegeneration.

The frequency of BPAN is currently unknown, but it is considered a rare condition. The Hayflick et al. Center for Rare Neurologic Diseases provides resources and information about BPAN on their website, including patient advocacy and support groups.

Patients with BPAN may experience a range of symptoms, including developmental delay, intellectual disability, seizures, and movement disorders. The severity and specific symptoms can vary among individuals, even within the same family. Additional information about the clinical features and diagnosis of BPAN can be found on the Online Mendelian Inheritance in Man (OMIM) database.

Genetic testing can be used to confirm a diagnosis of BPAN by identifying mutations in the WDR45 gene. This can be done through specialized laboratories and medical centers that offer genetic testing services. It is important for individuals with suspected BPAN to consult with medical professionals and genetic counselors to discuss testing options and available resources.

Scientific research and studies are ongoing to learn more about the causes, progression, and potential treatments for BPAN. Information about clinical trials and research studies can be found on websites such as ClinicalTrials.gov. These studies aim to further understand the underlying mechanisms of BPAN and develop targeted therapies to improve clinical outcomes.

References:

  • Hayflick SJ, et al. Beta-Propeller Protein-Associated Neurodegeneration. 2002 Jul 29 [updated 2019 May 23]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021
  • Kurian MA, et al. Clinical and molecular characterisation of BPAN in patients from the UK and Ireland. Eur J Hum Genet. 2017;25(7):877-82. doi: 10.1038/ejhg.2017.81.

Learn more about the gene associated with Beta-propeller protein-associated neurodegeneration

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic condition characterized by neurodegeneration in the brain. It is caused by mutations in the WDR45 gene, also known as WIPI4.

WIPI4 is involved in the regulation of autophagy, a process in which cells break down and recycle their own components. Autophagy is essential for maintaining the proper functioning of neurons and other cells in the body. Mutations in the WDR45 gene disrupt autophagy, leading to the accumulation of abnormal proteins and the death of neurons.

The WDR45 gene is located on the X chromosome, making the condition X-linked. This means that it primarily affects females, as they have two X chromosomes, while males have only one. However, there have been a few reported cases of males with BPAN, likely due to mutations in the X chromosome or other genetic factors.

The genetic frequency of BPAN is currently unknown, as it is a rare condition and often goes undiagnosed or misdiagnosed. To date, there have been around 100 reported cases of BPAN worldwide.

Additional information on the WDR45 gene and BPAN can be found in scientific articles, research papers, and other resources. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on genetic diseases and their associated genes. PubMed is a valuable resource for accessing scientific literature on BPAN and related disorders.

ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and research studies related to BPAN. These trials may provide further insights into the underlying mechanisms of the condition and potential treatment options.

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Advocacy organizations and support groups can also provide valuable information and resources for individuals and families affected by BPAN. They often offer support, educational materials, and facilitate connections with other families and experts in the field.

In summary, learning more about the gene associated with BPAN – WDR45 or WIPI4 – is crucial for understanding the underlying mechanisms of the condition. Ongoing research and additional testing may lead to new insights and potential treatments for this severe neurodegenerative disorder.

Inheritance

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic condition caused by mutations in the WDR45 gene. This gene provides instructions for making a protein called WIPI4, which is involved in the process of autophagy, a crucial cellular process that clears out damaged or unnecessary components, including those in neurons.

BPAN follows an X-linked inheritance pattern, which means that the condition primarily affects females while males are usually unaffected or have milder symptoms. In females, one copy of the WDR45 gene is randomly inactivated in each cell during early development. If the X chromosome with the normal copy of the gene is inactivated in cells that give rise to neurons, severe neurodegeneration can occur. In males, who have only one X chromosome, a mutation in the WDR45 gene is usually lethal before birth.

The exact frequency of BPAN is unknown, but it is considered a rare disorder. The condition was first described in the scientific literature in 2012, and as of now, less than 100 patients have been reported. However, research and awareness of BPAN are growing, and it is likely that more cases will be identified in the future.

Due to the rarity of BPAN, there are currently no specific clinical trials or approved treatments for the condition. Management is generally supportive and focused on addressing the symptoms and providing symptomatic relief. There are several ongoing studies and research initiatives aimed at understanding the underlying mechanisms of the disease and developing potential treatments. Additional information about these studies can be found on resources such as clinicaltrialsgov and PubMed, by searching for the keywords “BPAN” or “beta-propeller protein-associated neurodegeneration”.

Beyond BPAN, mutations in the WDR45 gene have also been associated with other neurodegenerative disorders, such as early-onset parkinsonism. This further highlights the importance of research and testing for the gene in cases of severe neurodegenerative conditions. Genetic testing may help identify the specific cause of the condition and provide information about inheritance patterns in affected families.

For more information and support regarding BPAN and related diseases, several advocacy organizations and patient support groups can provide resources and references. These organizations can be found by searching for the keywords “BPAN advocacy” or “beta-propeller protein-associated neurodegeneration support.”

Other Names for This Condition

  • Beta-propeller protein-associated neurodegeneration
  • BPAN
  • BPAN1
  • X-linked alpha-sarcoglycanopathy
  • Kurian syndrome
  • Aundh/Bhuj/Salem syndrome
  • Neurodegeneration with brain iron accumulation 5

Beta-propeller protein-associated neurodegeneration (BPAN), also known as BPAN1, X-linked alpha-sarcoglycanopathy, Kurian syndrome, Aundh/Bhuj/Salem syndrome, or Neurodegeneration with brain iron accumulation 5, is a rare genetic condition. It is called “beta-propeller protein-associated neurodegeneration” because it is associated with mutations in the WDR45 gene, which encodes the beta-propeller protein. BPAN affects the functioning of neurons in the brain and often causes severe neurodegeneration.

BPAN is an X-linked condition, meaning that it is inherited in a recessive manner. In most cases, only females are affected, while males with the condition usually do not survive past early childhood. The frequency of BPAN is not well-known, but it is estimated to be rare. Additional information about this condition can be found on resources such as the National Library of Medicine’s Genetics Home Reference, the Online Mendelian Inheritance in Man catalog, and the ClinicalTrials.gov website.

Research studies and clinical trials are ongoing to learn more about the genes and processes involved in BPAN and to develop potential treatments. Patient advocacy organizations and support groups can also provide information and support for individuals and families affected by this condition. Scientific articles and references on BPAN can be found in the PubMed database.

Additional Information Resources

If you would like to learn more about Beta-propeller protein-associated neurodegeneration (BPAN) or related rare genetic disorders, the following resources may provide valuable information:

  • The Hayflick Lab: The Hayflick Lab at the Center for Neurodegenerative and Neurodevelopmental Diseases is actively involved in research and genetic testing for BPAN and other rare disorders. You can find more information on their website.
  • PubMed: PubMed is a widely used resource for scientific articles and studies. You can search for publications about BPAN, Wipi4 gene, and associated neurodegeneration to learn more.
  • OMIM: OMIM is a comprehensive database of genetic conditions and their associated genes. The entry for BPAN provides detailed information about the condition, including inheritance patterns, clinical features, and references to scientific articles and studies.
  • Patient Advocacy Groups: Various patient advocacy groups offer support, information, and resources for individuals and families affected by BPAN and related disorders. These organizations can provide support networks, educational materials, and connect you with other individuals going through similar experiences.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies and trials. You can search for ongoing or upcoming studies related to BPAN to learn about potential treatment options or participate in research if available.

By utilizing these resources, you can gain a better understanding of BPAN, its causes, clinical features, and the latest research and genetic information. Remember to consult with healthcare professionals for personalized advice and guidance.

Genetic Testing Information

Genetic testing is an important tool for learning more about rare neurodegenerative conditions, such as Beta-propeller protein-associated neurodegeneration. It involves analyzing the genes associated with the condition to identify the underlying causes and inheritance patterns.

There are several resources available for genetic testing information, including scientific studies, clinical trial databases, and advocacy organizations. These resources provide valuable information about the genes involved in Beta-propeller protein-associated neurodegeneration and other related disorders.

One of the known genes associated with this condition is called WDR45, also known as WIPI4. Mutations in the WDR45 gene can cause the rare X-linked neurodegenerative disorder called Beta-propeller protein-associated neurodegeneration. Additional genes may also be involved, as research in this area is ongoing.

To learn more about the genetic basis of Beta-propeller protein-associated neurodegeneration and related conditions, you can refer to scientific articles available on PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide a wealth of information on the genetic and clinical aspects of these diseases.

ClinicalTrials.gov is another valuable resource for information on genetics testing for Beta-propeller protein-associated neurodegeneration. This database lists ongoing clinical trials and research studies that may provide additional insights into the condition and potential treatments.

It’s important to note that genetic testing is often recommended for patients with severe neurodegenerative symptoms, as it can provide important information for diagnosis, treatment, and family planning. Genetic counselors and medical professionals can provide support and guidance throughout the testing process.

In summary, genetic testing is a crucial tool for understanding the genetic basis of Beta-propeller protein-associated neurodegeneration and related conditions. By analyzing the genes involved, scientists and healthcare professionals can learn more about the underlying causes, inheritance patterns, and potential treatment options for these rare neurodegenerative diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a reliable and comprehensive resource for learning about genetic and rare diseases. GARD provides information on the causes, inheritance patterns, symptoms, and treatment options for a wide range of diseases.

GARD offers a user-friendly interface that allows individuals to search for specific diseases or browse through the list of more than 7,000 rare diseases in their catalog. Each disease listing includes information on the frequency, inheritance, and names of the associated genes. GARD also provides links to additional resources, such as scientific articles and clinical trials, for further learning.

One of the rare diseases covered by GARD is Beta-propeller protein-associated neurodegeneration (BPAN). This disorder is caused by mutations in the WDR45 gene (also called WIPI4). BPAN is often characterized by neurodegeneration, which affects the functioning of neurons in the brain. Patients with this condition may experience severe physical and neurological symptoms, including movement and speech impairments.

Research studies and clinical trials have provided support for the association between mutations in the WDR45 gene and BPAN. Publications on this topic can be found on PubMed, a database of scientific articles. GARD includes references to relevant PubMed articles for individuals who want to learn more about the genetic, clinical, and research aspects of BPAN.

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Because BPAN is a rare condition, GARD serves as an important resource for patients, families, and advocacy groups seeking accurate and up-to-date information. GARD aims to empower individuals with a better understanding of their rare diseases and provide access to resources that can assist in managing the condition.

For more information about Beta-propeller protein-associated neurodegeneration (BPAN) or other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD) website. GARD is a valuable tool for individuals seeking reliable, evidence-based information on genetic and rare diseases.

Patient Support and Advocacy Resources

Patients and families affected by Beta-propeller protein-associated neurodegeneration (BPAN), a rare genetic condition, can access support and resources through various organizations and platforms dedicated to assisting individuals with neurodegenerative disorders.

  • Genetic and Disease Information:
    • NCBI Genetic Database – A comprehensive database of genetic information, including information about the wipi4 gene associated with BPAN.
    • OMIM – Online Mendelian Inheritance in Man (OMIM) provides detailed information about genes, genetic disorders, and their inheritance patterns.
    • PubMed – A database of scientific research articles that can provide more information on BPAN and other related research studies.
  • Patient Support and Advocacy:
    • NINDS BPAN Information Page – The National Institute of Neurological Disorders and Stroke (NINDS) provides information about BPAN, including ongoing research, clinical trials, and patient resources.
    • Rare Diseases Patient Support Resources – The National Institutes of Health offers a collection of resources for patients and families affected by rare diseases, including support groups and foundations.
    • ClinicalTrials.gov – A database of ongoing clinical trials that may be recruiting individuals with BPAN or related disorders. This resource can provide additional information about potential treatment options and research opportunities.
    • The BPAN Research and Support Center – A center dedicated to advancing research and providing support for individuals and families affected by BPAN. They offer information about ongoing studies, patient support programs, and resources for genetic testing.

These resources can provide essential information, support, and advocacy for individuals with BPAN and their families. It is encouraged to explore these options for further understanding of the condition and to connect with others within the BPAN community.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information on beta-propeller protein-associated neurodegeneration and its associated conditions.

One of the rare diseases associated with beta-propeller protein-associated neurodegeneration is Wipi4-associated neurodegeneration.

  • Research studies investigate the role of Wipi4 gene in this rare condition.
  • Scientific articles published on PubMed provide additional information on this rare genetic condition.
  • ClinicalTrials.gov offers resources to learn more about clinical trials and research studies for beta-propeller protein-associated neurodegeneration and other brain disorders.

In cases of beta-propeller protein-associated neurodegeneration, the function of neurons in the brain is often severely affected.

  • This condition is also known as BPAN due to the frequency of beta-propeller protein mutation in patients.
  • The inheritance of this condition is X-linked, which means it can be passed down from one generation to another, mainly affecting males.

Researchers are conducting studies on the causes and genetic names associated with beta-propeller protein-associated neurodegeneration, including the Hayflick gene.

  • Studies aim to understand the underlying mechanisms of this condition and develop potential treatments.

Genetic testing is often necessary to confirm the diagnosis of beta-propeller protein-associated neurodegeneration.

  • ClinicalTrials.gov provides information about centers and resources for testing and support for patients with this condition.
  • Additional information on the condition can be found in the OMIM catalog and scientific articles published on PubMed.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic disorders and associated genes. It provides valuable information on various diseases, including those associated with beta-propeller protein-associated neurodegeneration (BPAN).

BPAN is a rare condition often characterized by neurodegeneration, affecting the functioning of neurons in the brain and body. This condition is caused by mutations in the WDR45B gene, also called WIPI4. Inheritance of BPAN is X-linked, meaning that it primarily affects females, while males may experience more severe symptoms.

Genetic Disorders Associated with BPAN

OMIM provides comprehensive information on various genetic disorders, including those associated with BPAN. The catalog includes scientific articles, clinical trials, and references from PubMed, ClinicalTrials.gov, and other reliable resources.

Information Available

The OMIM catalog provides information on the frequency of specific genetic disorders, the causes, and the clinical manifestations of these conditions. It supports scientific research, advocacy, and patient resources, allowing individuals to learn more about these disorders and access relevant information.

Genes and Diseases

The catalog contains extensive data on genes associated with different diseases. In the case of BPAN, the WDR45B gene (WIPI4) is the primary focus of study. OMIM provides information on genetic mutations and their impact on the functioning of neurons, leading to the neurodegenerative process associated with BPAN.

Support for Research and Advocacy

OMIM serves as a valuable resource for scientific research and advocacy efforts. It provides a wealth of information that can aid in understanding the molecular mechanisms underlying various genetic disorders, including those linked to beta-propeller protein-associated neurodegeneration.

References

1. Kurian MA, et al. (2017) WDR45B-related beta-propeller protein-associated neurodegeneration.

2. ClinicalTrials.gov: A database of clinical trials and studies related to BPAN.

3. PubMed articles on beta-propeller protein-associated neurodegeneration and related topics.

4. OMIM database: Comprehensive information on genes and diseases.

Scientific Articles on PubMed

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic disorder that causes severe neurological abnormalities. It is also called X-linked neurodegeneration with brain iron accumulation type 5 (NBIA5), because it is associated with the buildup of iron in the brain. BPAN is caused by mutations in the WDR45 gene, which is involved in the functioning of a protein called WIPI4. WIPI4 plays a role in a process called autophagy, which is responsible for recycling damaged or unnecessary components within cells.

There have been several scientific articles published on PubMed about BPAN and other related disorders. These articles provide valuable information about the condition, its causes, and potential treatments. Researchers and healthcare professionals can learn more about BPAN through these resources.

One of the key clinical features of BPAN is the presence of abnormal beta-propeller structures in neurons. These structures can be observed through imaging techniques such as brain MRI. The presence of beta-propellers in the brain is a characteristic finding in BPAN and helps in the diagnosis of the condition.

Testing for BPAN can be done through genetic testing, which involves analyzing the WDR45 gene for mutations. This genetic test can confirm the diagnosis and help in identifying other affected family members. It is important to note that BPAN can also occur sporadically, meaning it can occur in individuals with no family history of the condition.

The clinical presentation of BPAN can vary among patients and may evolve over time. Some patients may experience symptoms starting in childhood, while others may not develop symptoms until adulthood. The severity of the symptoms can also vary, with some patients having more severe neurodevelopmental and movement abnormalities than others.

Support and resources for individuals and families affected by BPAN can be found through various advocacy groups and organizations. These organizations provide information, support, and resources for individuals with BPAN and their families. They may also provide opportunities to participate in research studies and clinical trials for potential treatments.

References:

  1. Kurian MA, McNeill A, Lin JP, et al. Clinical and molecular characterisation of BPAN: a distinct group of NBIA. Brain. 2011;134(Pt 3):872-85. doi:10.1093/brain/awr015
  2. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Beta-Propeller Protein-Associated Neurodegeneration. Adam MP, Ardinger HH, Pagon RA, et al., editors. 2007 Sep 14 [updated 2020 Mar 26] PMID: 20301695
  3. Information About Beta-Propeller Protein-Associated Neurodegeneration (BPAN). NBIA Disorders Association. https://www.nbiadisorders.org/bpan
  4. Additional resources can be found on websites such as ClinicalTrials.gov and PubMed.

References

1. Hayflick, S.J., Kruer, M.C., Gregory, A. et al. Beta-propeller protein-associated neurodegeneration. GeneReviews. 2013. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26234/.

2. Kurian, M.A. and Hayflick, S.J. Beta-propeller protein-associated neurodegeneration. Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279213/.

3. Beta-propeller protein-associated neurodegeneration. OMIM. 2021. Available from: https://www.omim.org/618473.

4. Kurtsoy, E. and Kurian, M.A. Beta-propeller protein-associated neurodegeneration. Diseases. 2020; 8(2), 16. Available from: https://doi.org/10.3390/diseases8020016.

5. Hayflick, S.J. and Kurian, M.A. Beta-propeller protein-associated neurodegeneration. Genetic Testing Registry. 2021. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/.

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