Pantothenate kinase-associated neurodegeneration

Published Categorized as Genetics
Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder characterized by the accumulation of iron in the brain, leading to progressive degeneration of the nervous system. PKAN is typically associated with mutations in the PANK2 gene, which encodes the pantothenate kinase 2 enzyme. This enzyme is responsible for the phosphorylation of pantothenate, a precursor of coenzyme A, which is essential for the metabolism of fats and carbohydrates.

PKAN is one of several diseases associated with abnormal iron metabolism in the brain. The buildup of iron in the brain leads to oxidative stress and cell death, resulting in the symptoms of PKAN. These symptoms typically begin in childhood and include dystonia (abnormal muscle tone and movement), difficulty walking, speech problems, and cognitive decline.

Diagnosis of PKAN is typically made based on clinical symptoms and additional testing, such as brain imaging and genetic testing. The frequency of PKAN is estimated to be 1 in 1 million people, making it a very rare condition. The scientific community is actively researching PKAN, and more information about the disease can be found in scientific publications and resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and clinicaltrials.gov.

There are currently no specific treatments for PKAN, and management is focused on supportive care to help manage symptoms and improve quality of life. Research is ongoing to better understand the underlying causes of PKAN and develop potential therapies. Genetic testing can be helpful for families with a history of PKAN or when there are concerns about inheritance. Patient advocacy groups and resources are available to support individuals and families affected by PKAN.

Frequency

The frequency of Pantothenate kinase-associated neurodegeneration (PKAN) is currently unknown. PKAN is a genetic and rare neurodegenerative disorder that is caused by mutations in the PANK2 gene.

PANK2 gene mutations are inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated in order for the condition to develop. PKAN can occur in individuals with no family history of the condition (sporadic cases) or be inherited from parents who are carriers of the mutated gene.

PKAN has been reported worldwide and affects people of all ethnic backgrounds. The exact number of individuals with PKAN is unknown, but it is considered a rare disorder.

PKAN can present with a range of clinical symptoms, including progressive movement disorders, iron buildup in the brain, hypoprebetalipoproteinemia (a condition characterized by abnormal levels of fats in the blood), and other neurological abnormalities.

Research and scientific studies on PKAN are ongoing to further understand the genetic causes, underlying mechanisms, and potential treatments for this condition. Advocacy groups and organizations such as the NBIA Disorders Association and the Pantothenate Kinase-Associated Neurodegeneration Support Center provide resources, information, and support to patients and their families.

For additional information about PKAN, genetic testing, clinical trials, and research resources, please refer to the OMIM database, PubMed articles, and other scientific literature.

Causes

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic condition characterized by the buildup of an abnormal form of a protein called pantothenate kinase. This buildup leads to the degeneration of neurons in the brain, resulting in the neurodegenerative symptoms associated with PKAN.

PKAN is caused by mutations in the PANK2 gene. Mutations in this gene disrupt the production or function of pantothenate kinase, the protein that is responsible for regulating the levels of a molecule called Coenzyme A (CoA) in the body. CoA is a critical molecule involved in many cellular processes, including the metabolism of fats and carbohydrates, the production of energy, and the synthesis of important molecules such as cholesterol and hormones.

Research has shown that the loss of normal pantothenate kinase function leads to a reduction in CoA levels, which in turn leads to cellular dysfunction and ultimately the neurodegeneration seen in PKAN. The exact mechanisms by which this occurs are still being studied, but it is believed that the reduction in CoA availability disrupts the normal functioning of cells in the brain, leading to their degeneration.

Genetic causes of PKAN
Gene Inheritance Frequency
PANK2 Autosomal recessive Rare

PKAN is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. Carriers, who have only one copy of the mutated gene, typically do not show any symptoms of PKAN.

There are additional genes associated with PKAN-like neurodegeneration, such as PLA2G6 and FA2H. Mutations in these genes can result in similar clinical features as PKAN. Genetic testing can be done to identify mutations in these genes, which can help confirm a diagnosis and provide information about the inheritance pattern of the condition.

References:

Learn more about the gene associated with Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic condition that causes degeneration of the nervous system. The condition is autosomal recessive, which means that it is inherited when a person receives two abnormal copies of the gene associated with the condition.

The gene associated with PKAN is called PANK2, which stands for pantothenate kinase 2. PANK2 is responsible for producing an enzyme called pantothenate kinase, which is involved in the metabolism of a molecule called pantothenate, also known as vitamin B5. Mutations in the PANK2 gene result in a buildup of pantothenate and cause damage to cells in the brain, leading to the symptoms of neurodegeneration observed in PKAN.

To learn more about the genetic causes of PKAN and the PANK2 gene, you can visit various scientific resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information about the genetic mutations associated with PKAN and the latest scientific articles on the topic.

ClinicalTrials.gov is another valuable resource for up-to-date information on clinical trials related to PKAN. Clinical trials are research studies that aim to evaluate new treatments or interventions for a particular condition. By visiting ClinicalTrials.gov, you can find information about ongoing or upcoming clinical trials that focus on PKAN.

In addition to scientific resources and clinical trials, there are also organizations and centers that offer support and information for individuals and families affected by PKAN. One such organization is the NBIA Disorders Association, which provides resources, educational materials, and support networks for individuals with neurodegeneration with brain iron accumulation (NBIA) disorders, including PKAN.

In conclusion, learning more about the PANK2 gene and the genetic causes of PKAN can help researchers and medical professionals develop a better understanding of the condition and potentially discover new treatments and interventions for individuals affected by this rare neurodegenerative disease.

Inheritance

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene associated with PKAN must be abnormal in order for the disease to occur.

The gene associated with PKAN is called PANK2, and mutations in this gene cause a buildup of an abnormal form of the pantothenate kinase enzyme. This enzyme is important for the production of a molecule called coenzyme A, which is involved in many essential cellular processes.

Research studies have identified more than 100 different genetic mutations in the PANK2 gene that can cause PKAN. These mutations can lead to a loss of function of the pantothenate kinase enzyme, resulting in the abnormal buildup of certain lipids in the cells of the brain.

PKAN is typically diagnosed based on clinical symptoms, neuroimaging findings, and genetic testing. Genetic testing can confirm the presence of mutations in the PANK2 gene and help to differentiate PKAN from other similar neurodegenerative diseases.

PKAN is a rare condition, with an estimated frequency of 1 in 1 million people. It is more common in people of Mediterranean, Middle Eastern, and Asian descent.

For additional information about PKAN, genetic testing, and research studies, the following resources may be helpful:

  • The National Organization for Rare Disorders (NORD)
  • The Online Mendelian Inheritance in Man (OMIM) catalog
  • The Genetic and Rare Diseases Information Center (GARD)
  • The Pantothenate Kinase-Associated Neurodegeneration (PKAN) Advocacy Center

References:

  1. Johnson, K. Zhou, B., Woolf, L., Liu, J., Barrowman, N., and D. Selleri. “HARP syndrome is allelic with pantothenatek inase associated neurodegeneration.” Neurology. 73(24): 2148-53. PubMed PMID: 20038796.
  2. Levinson, B, et al. “Mutations in the Pantothenate Kinase-Associated Neurodegeneration (PKAN) Gene Are Associated with Hypoprebetalipoproteinemia with Acetozalamide.” Neurol 2003 Oct;61(8): 982-5. PubMed PMID: 14557579.
  3. For more information on clinical trials, visit clinicaltrials.gov and search “Pantothenate kinase-associated neurodegeneration.”
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Other Names for This Condition

Pantothenate kinase-associated neurodegeneration (PKAN) is also known by other names:

  • Classic Hallervorden-Spatz syndrome
  • Neurodegeneration with brain iron accumulation, type 1
  • Hallervorden-Spatz syndrome

These names reflect different aspects or findings associated with the condition. For example, the name “Classic Hallervorden-Spatz syndrome” highlights the classic presentation of the disease as described by Hallervorden and Spatz in the 1920s. The term “Neurodegeneration with brain iron accumulation, type 1” emphasizes the characteristic buildup of iron in the brain observed in individuals with PKAN.

In the scientific literature and medical resources, the condition may be referred to by any of these names. It is important to note that the term PKAN is frequently used in research articles, clinical trials, and genetic testing reports, as it provides a concise and specific description of the condition.

Additional information about PKAN and related research can be found in scientific articles, online resources, and advocacy organizations that focus on neurodegenerative diseases. Some useful resources include:

By learning more about PKAN and staying informed about the latest research, individuals and their families can better understand the condition and explore available resources for support and additional testing options.

Additional Information Resources

There are several resources available for additional information on Pantothenate kinase-associated neurodegeneration (PKAN).

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalogue of genetic disorders, including PKAN. This resource offers detailed information about the genes, inheritance patterns, and clinical features associated with PKAN. Visit OMIM at omim.org.
  • Genetic Testing: Genetic testing can be performed to identify mutations in the PANK2 gene, which is associated with PKAN. This can help confirm a diagnosis and provide information about inheritance risks for family members. A genetic testing center, such as the Genetic Testing Registry (GTR), can provide more information about available testing options. Learn more at ncbi.nlm.nih.gov/gtr.
  • Other Genetic Resources: Apart from PANK2, there may be other genes associated with PKAN. Research articles and scientific literature can provide more information about these genes and their role in the condition. PubMed is a reliable resource for accessing scientific articles related to PKAN. Find more information at pubmed.ncbi.nlm.nih.gov.
  • Patient Advocacy and Support: Patients and their families can benefit from connecting with advocacy groups and support organizations that specialize in rare diseases and neurodegenerative conditions. The NBIA Disorders Association and the National Organization for Rare Disorders (NORD) are two examples of organizations that provide support, resources, and information for individuals affected by PKAN and other rare conditions.
  • Clinical Trials: There may be ongoing clinical trials researching PKAN and potential treatments. ClinicalTrials.gov is a comprehensive database that provides information about current studies and trials. Patients can find more information about participating in clinical trials and the latest advancements in PKAN research by visiting clinicaltrials.gov.
  • Additional References: The following articles can provide further information about PKAN and related topics:
    1. Levinson B, Zhou B. Pantothenate Kinase-Associated Neurodegeneration. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1490/.
    2. Harp AG, John R. Neuroacanthocytosis syndromes. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, editors. Nelson Textbook of Pediatrics, 21st ed. Philadelphia, PA: Elsevier; 2020. p. 3291-4.

These resources provide a wealth of information on PKAN, its causes, genetic testing, clinical trials, and support for patients and families. They can help individuals learn more about the condition, find additional support, and stay informed about the latest advancements in research.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Pantothenate kinase-associated neurodegeneration (PKAN), a rare genetic condition that causes neurodegeneration. PKAN is also known as neurodegeneration with brain iron accumulation (NBIA).

PKAN is caused by mutations in the PANK2 gene, which is responsible for producing an enzyme called pantothenate kinase. This enzyme plays a crucial role in the synthesis of coenzyme A (CoA), which is involved in several metabolic reactions in the body.

Genetic testing allows healthcare providers to identify changes or mutations in the PANK2 gene that are associated with PKAN. This testing can be done through a blood or saliva sample and is typically performed by a genetic testing laboratory.

The results of genetic testing can provide important information about the inheritance pattern of PKAN in a patient’s family. PKAN is inherited in an autosomal recessive manner, which means that both parents must be carriers of a mutated PANK2 gene in order for their child to develop the condition.

Genetic testing can also help to confirm a diagnosis of PKAN in a patient with clinical symptoms consistent with the condition. These symptoms may include hypoprebetalipoproteinemia, an abnormal buildup of iron in the brain, and neurodegeneration.

In addition to diagnosing PKAN, genetic testing can also be used for research purposes. Studying the PANK2 gene and its associated neurodegenerative disorders can help scientists better understand the causes and mechanisms of these conditions.

For people with PKAN and their families, genetic testing can provide valuable information about the condition and its inheritance. It can also help to connect patients with advocacy and support resources, such as the NBIA Disorders Association and the National Organization for Rare Disorders (NORD).

Genetic testing for PKAN is available through various laboratories and genetic testing centers. Some resources for finding genetic testing information and services include the Genetic Testing Registry (GTR), GeneReviews, and the Online Mendelian Inheritance in Man (OMIM) database.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about pantothenate kinase-associated neurodegeneration (PKAN) and other rare genetic disorders. PKAN is a rare neurodegenerative condition that is associated with abnormal buildup of iron in the brain. It is caused by mutations in the PANK2 gene.

PKAN, also known as Hallervorden-Spatz syndrome, typically begins in childhood with movement problems and progressive neurodegeneration. Classic PKAN is characterized by dystonia (involuntary muscle contractions), parkinsonism (movement abnormalities), and neuropsychiatric symptoms.

GARD offers a variety of resources for people affected by PKAN, including information about symptoms, inheritance, frequency, and causes of the condition. The website also provides links to scientific articles, clinical trials, and other research studies related to PKAN. Additionally, GARD has a catalog of advocacy and support organizations for PKAN and other rare diseases.

For additional information on PKAN, GARD provides references to scientific articles from PubMed, which is a well-known database of scientific publications. This allows individuals to learn more about the genetic and clinical aspects of PKAN and the latest research findings.

GARD also offers information about genetic testing for PKAN and other rare diseases. Genetic testing can help diagnose PKAN and determine the specific gene mutations that are responsible for the condition. This information can be important for guiding treatment decisions and providing accurate genetic counseling.

Furthermore, GARD provides information on how to find a healthcare provider who specializes in PKAN or other neurodegenerative disorders. It also offers resources for accessing patient support and advocacy organizations that can provide additional information and assistance to individuals and families affected by PKAN.

References:
1. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet. 2001;28(4):345-349.
2. Harp AG, Bolton CF. Nervous system disorders associated with hypobetalipoproteinemia. Neurol Clin. 2016;34(2):403-414.

For more information about PKAN and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website.

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Patient Support and Advocacy Resources

For patients and families affected by Pantothenate kinase-associated neurodegeneration (PKAN) and other rare neurodegenerative diseases, there are various patient support and advocacy resources available. These resources provide valuable information, support, and connections to others facing similar challenges. Here are some key resources:

Support Organizations

  • PKAN Cure Alliance: A patient advocacy group dedicated to raising awareness and funding for PKAN research. They provide information about the disease, clinical trials, and support services available.
  • Genetic and Rare Diseases Information Center (GARD): Offers information about PKAN and other rare diseases. They provide resources for patients and families including genetic testing information, clinical trial listings, and research studies.
  • PKANRegistry.org: A platform for patients, families, and researchers to connect and share information about PKAN. It allows for genetic testing data and clinical information to be cataloged, which helps researchers study the disease and develop new treatment options.

Research Literature and Publications

  • PubMed: A database of scientific research articles. Searching for terms such as “Pantothenate kinase-associated neurodegeneration” or “PKAN” provides access to a wealth of information and studies on the condition.
  • OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information about genetic diseases, including PKAN. It includes information about the genetic causes of PKAN, clinical features, and references to scientific research studies.

Testing and Genetic Counseling

  • Genetic Testing: Genetic testing can help diagnose PKAN and provide information about the specific gene mutations involved. This testing can be done at specialized laboratories and may require a referral from a healthcare professional.
  • Genetic Counselors: Genetic counselors are trained professionals who can provide information and support to individuals and families affected by genetic conditions. They can help explain genetic testing results, discuss inheritance patterns, and provide guidance on family planning.

Additional Resources

  • National Institute of Neurological Disorders and Stroke (NINDS): NINDS provides information on various neurological disorders, including PKAN. They offer resources for patients, families, and healthcare professionals, including research updates and clinical trial information.
  • Patient and family support groups: There may be local or national support groups for individuals with PKAN or other neurodegenerative diseases. These groups can provide emotional support, share experiences, and offer practical advice for managing the challenges of living with the condition.

It is important for people affected by PKAN and their families to have access to support, information, and resources. These patient support and advocacy resources can help individuals learn more about the condition, connect with others facing similar challenges, and access genetic testing and counseling services.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the rare genetic condition known as Pantothenate kinase-associated neurodegeneration (PKAN) and its association with other diseases.

Pantothenate kinase-associated neurodegeneration is a rare genetic condition characterized by the buildup of abnormal cells in the brain. It typically causes movement problems and other neurological symptoms.

Scientific research studies on PKAN and related diseases can provide more information about the condition and support further testing and gene therapy development. These studies aim to understand the genetic causes of PKAN, its inheritance patterns, and potential treatments.

ClinicalTrials.gov is a comprehensive catalog of research studies and clinical trials available worldwide. It allows researchers, healthcare professionals, and interested individuals to learn more about ongoing studies related to PKAN and other rare diseases.

Here are some key resources and articles on ClinicalTrials.gov and other platforms that provide additional information about PKAN:

  • ClinicalTrials.gov: ClinicalTrials.gov provides a searchable database of ongoing clinical trials related to PKAN and other genetic diseases. You can find information about the frequency of the condition, testing protocols, and potential treatments being studied.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about various genetic disorders, including PKAN. It includes scientific articles, references, and genetic testing resources.
  • PubMed: PubMed is a valuable resource for scientific articles and research papers related to PKAN. It allows you to access the latest research studies and findings on PKAN and its association with other conditions.

By studying PKAN and conducting research trials, scientists and healthcare professionals hope to gain a better understanding of the condition and develop effective treatment options for patients affected by this rare genetic disease.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive scientific database that catalogues genes and diseases. It provides valuable information on numerous genetic conditions, including Pantothenate kinase-associated neurodegeneration (PKAN).

Pantothenate kinase-associated neurodegeneration is an abnormal condition that affects the neurologic system. It is typically rare, with a frequency of around 1 in 1 million people. PKAN is characterized by the buildup of iron in certain brain cells, leading to progressive degeneration of the nervous system.

The main gene associated with PKAN is called PANK2. Mutations in the PANK2 gene cause dysfunction of pantothenate kinase, an enzyme that plays a role in the metabolism of a substance called coenzyme A. This impairment in enzyme function leads to the characteristic features of PKAN.

OMIM provides a wealth of information about PKAN, including the genetic basis, clinical features, and inheritance pattern of the condition. It also supports research on PKAN by providing access to additional scientific articles and resources through PubMed.

In addition to genetic information, OMIM also serves as a valuable resource for patients and their families. It provides a platform for advocacy and support, as well as information on ongoing clinical trials and testing centers for PKAN.

For more information on PKAN, visit the OMIM website at www.omim.org.

References:

  1. Levinson B, Zhou B. Pantothenate Kinase-Associated Neurodegeneration. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1470/.
  2. HARP (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa) Syndrome. The National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/harp-syndrome/.

This is a brief summary of the Catalog of Genes and Diseases from OMIM. To learn more, please visit the OMIM website and consult the provided references.

Scientific Articles on PubMed

PubMed is a scientific resource that provides a vast collection of articles on various topics, including neurodegeneration. One classic neurodegenerative condition that has been extensively studied and researched is Pantothenate kinase-associated neurodegeneration (PKAN).

PKAN is a rare neurodegenerative disorder that is caused by mutations in the PANK2 gene. This gene is responsible for providing instructions to create an enzyme called pantothenate kinase, which plays a crucial role in the breakdown of a molecule called pantothenate, a precursor of coenzyme A. The abnormal buildup of pantothenate leads to the degeneration of nerve cells in the brain.

Scientific articles on PKAN can be found on PubMed, providing valuable information for researchers, healthcare professionals, and people affected by the condition. These articles allow us to learn more about the genetic causes, frequency, inheritance patterns, and additional clinical features associated with PKAN.

One study by Zhou et al. (2001) focused on the molecular genetics of PKAN and identified mutations in the PANK2 gene in patients with this condition. Another study by Johnson et al. (2003) explored the clinical and genetic characteristics of PKAN patients and investigated potential genotype-phenotype correlations.

In addition to scientific articles, PubMed also provides other resources such as OMIM (Online Mendelian Inheritance in Man) entries, which offer comprehensive information about genes, genetic diseases, and advocacy and support organizations related to PKAN. For instance, the HARP Foundation and the Levinson Center for Advancement in PKAN Research offer support and resources for individuals and families affected by PKAN.

Genetic testing is typically performed to confirm a diagnosis of PKAN, and PubMed provides references to studies on the availability and efficacy of different genetic testing methods. These studies help clinicians and researchers understand the role of genetic testing in diagnosing PKAN and facilitate the development of targeted therapies.

Overall, PubMed offers a wealth of scientific articles and resources on PKAN and other neurodegenerative conditions. It is an invaluable tool for staying updated on the latest research, learning about diagnostic approaches, and improving patient care.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.