Fatty acid hydroxylase-associated neurodegeneration

Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) is a rare genetic neurological condition that leads to rapid loss of myelin, the white substance that surrounds nerve fibers in the brain. FAHN is caused by mutations in a gene called FA2H, which is responsible for producing an enzyme involved in the synthesis of certain fatty acids. These fatty acids play an essential role in the formation and maintenance of myelin.

Individuals with FAHN typically develop neurological problems in infancy or childhood, including difficulty walking, muscle weakness, and problems with swallowing. The condition is also characterized by a loss of white matter in the brain, which can be visualized through magnetic resonance imaging (MRI).

FAHN is inherited in an autosomal recessive manner, meaning that both copies of the FA2H gene must be mutated in order for the condition to manifest. The frequency of FAHN is currently unknown, but it is considered to be a very rare disorder.

Currently, there is no cure for FAHN, and treatment focuses on managing symptoms and providing supportive care. Research on FAHN is ongoing, and scientists are working to better understand the genetic and molecular mechanisms underlying the condition. Additional studies are also needed to develop more effective treatments for individuals with FAHN.

For more information about FAHN, genetic testing, and support resources, individuals and families can visit websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, or the Fatty Acid Hydroxylase-Associated Neurodegeneration Center. These resources provide information on clinical trials, scientific research articles, and advocacy organizations that are dedicated to supporting individuals with FAHN and other related disorders.

Frequency

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare condition that is caused by genetic problems with fatty acid hydroxylase genes. This condition is also known as Neurodegeneration with Brain Iron Accumulation (NBIA).

The frequency of FAHN is not well-documented due to its rarity. According to the Hayflick et al. (2013) catalog, only a few individuals have been diagnosed with FAHN. The Inherited Neurometabolic Disorders (INMD) program at the National Institute of Neurological Disorders and Stroke (NINDS) has additional information on FAHN and other related neurological disorders.

Research studies and clinical trials registered on ClinicalTrials.gov may provide more information on the frequency of FAHN. However, further research is needed to determine the exact prevalence of this condition.

FAHN is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to develop the condition. The exact genes involved in FAHN are not specified in the available resources.

Individuals with FAHN may experience a range of clinical symptoms and signs, including muscle loss, swallowing problems, and neurodegeneration. The loss of fatty acids in the myelin of white matter in the brain is associated with these symptoms.

To learn more about FAHN and its associated genes, you can refer to scientific articles available on PubMed and Online Mendelian Inheritance in Man (OMIM) database. These resources provide more information on the genetics, inheritance, clinical features, and diagnostic testing for FAHN.

For more support and advocacy resources related to FAHN, you can visit the NBIA Disorders Association or reach out to the International Advocacy and Support Center for NBIA Disorders. They provide information, support, and resources for individuals and families affected by FAHN and related conditions.

Causes

Fatty acid hydroxylase-associated neurodegeneration is a genetic condition that is caused by mutations in the FA2H gene. This gene provides instructions for making an enzyme called fatty acid 2-hydroxylase, which is involved in the synthesis of myelin, the protective covering of nerve fibers. Mutations in the FA2H gene lead to a deficiency or malfunction of the enzyme, resulting in the accumulation of abnormal fatty acids in the brain. This accumulation disrupts myelin production and causes progressive neurological problems.

These mutations can be inherited in an autosomal recessive manner, which means that both copies of the FA2H gene must be mutated to develop the condition. Individuals who carry one copy of the mutated gene are referred to as carriers and typically do not experience symptoms of the condition.

There are also rare cases of Fatty acid hydroxylase-associated neurodegeneration that are not caused by mutations in the FA2H gene. These cases are classified as “idiopathic” or of unknown cause.

Other genetic forms of neurodegeneration can also cause similar symptoms to Fatty acid hydroxylase-associated neurodegeneration. Conditions such as hereditary spastic paraplegias, infantile neuroaxonal dystrophy, and multiple sclerosis-like syndrome can lead to similar clinical presentations.

Research is ongoing to better understand the genetic causes and mechanisms of Fatty acid hydroxylase-associated neurodegeneration. Genetic testing for mutations in the FA2H gene is available and can help confirm a diagnosis. Additional studies and clinical trials are being conducted to find potential treatments for this condition.

For more information and resources about Fatty acid hydroxylase-associated neurodegeneration, individuals and families can consult the following references and organizations:

The Hayflick lab, which provides advocacy and information about Fatty acid hydroxylase-associated neurodegeneration (hayflick.org)
The Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on the FA2H gene and associated disorders (omim.org)
PubMed, a database of scientific articles that can provide more in-depth research on the topic (pubmed.ncbi.nlm.nih.gov)
The Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) Clinical Research Center, which conducts clinical trials and studies on Fatty acid hydroxylase-associated neurodegeneration (clinicaltrials.gov)

Learn more about the gene associated with Fatty acid hydroxylase-associated neurodegeneration

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare genetic condition characterized by the loss of myelin, the protective covering of nerve fibers in the brain. This condition is caused by mutations in the FA2H gene, which provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme is involved in the production of a specific type of fatty acid called 2-hydroxylated fatty acids, which play a crucial role in myelin formation and maintenance.

Individuals with FAHN typically experience rapid neurodegeneration, leading to problems with movement, muscle weakness, and swallowing difficulties. This condition can also cause additional neurological symptoms, such as loss of coordination, tremors, and psychiatric problems.

The inheritance pattern of FAHN is autosomal recessive, which means that an individual must inherit two copies of the mutated FA2H gene (one from each parent) to develop the condition. Carriers of a single copy of the mutated gene usually do not have any symptoms but can pass the gene on to their children.

Researchers have identified several mutations in the FA2H gene associated with FAHN. The OMIM database provides a catalog of these mutations, along with information on the frequency of each mutation in different populations.

ClinicalTrials.gov is a useful resource for finding ongoing research and clinical trials related to FAHN. By searching for “Fatty acid hydroxylase-associated neurodegeneration” on this website, you can find information on current studies investigating potential treatments and management strategies.

Testing for mutations in the FA2H gene is available and can be used to confirm a diagnosis of FAHN. Genetic testing is typically performed in specialized laboratories that focus on genetic diseases. Testing can be ordered by a healthcare provider or genetic counselor.

If you or a loved one has been diagnosed with FAHN, there are resources available for support and advocacy. The Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) Center is dedicated to providing information, resources, and support to individuals and families affected by FAHN. They offer educational materials, support groups, and connections to other organizations that can provide assistance.

In conclusion, FAHN is a rare neurodegenerative condition caused by mutations in the FA2H gene. Learning more about the gene associated with FAHN, the symptoms of the condition, and available resources and support can help individuals and families affected by FAHN navigate this rare disease.

Inheritance

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is an inherited condition. It is caused by changes (mutations) in the FA2H gene. This gene provides instructions for making an enzyme called fatty acid 2-hydroxylase, which is involved in the production of certain fats called fatty acids.

FAHN is inherited in an autosomal recessive pattern, which means that both copies of the FA2H gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition.

Conditions associated with FAHN include:

Neurological problems such as muscle stiffness, difficulty with swallowing, and loss of muscle control.
White matter abnormalities in the brain.
Rapid neurological degeneration.

Other Names for This Condition

Hydroxylase-associated neurodegeneration is also known as:

FAHN
Hayflick neurodegeneration with brain iron accumulation
Neurodegeneration associated with fatty acid hydroxylase deficiency
Neurodegeneration with brain iron accumulation type 2 (NBIA2)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation due to FTL1 mutation

These alternative names provide more information about the condition and describe its various characteristics. They can be used to search for more information about the condition in scientific articles, on websites such as PubMed and OMIM, and on advocacy and patient support resources.

Additional Information Resources

Below is a list of resources where you can find more information about fatty acid hydroxylase-associated neurodegeneration (FAHN) and related conditions:

Fatty Acid Hydroxylase-Associated Neurodegeneration Information Page: This page on the National Institute of Neurological Disorders and Stroke (NINDS) website provides an overview of FAHN, its symptoms, causes, diagnosis, and treatment options.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic and clinical aspects of FAHN and other related neurological disorders.
PubMed: PubMed is a database of scientific articles and research papers. By searching for “fatty acid hydroxylase-associated neurodegeneration” or related keywords, you can find research studies and clinical trials that provide more insights into the condition.
Neurol Genet: The journal Neurol Genet publishes scientific articles and research papers on various genetic neurological disorders, including FAHN. Browsing through their articles may provide you with more in-depth knowledge on the subject.
National Organization for Rare Disorders (NORD): NORD is a non-profit organization that provides information, support, and advocacy for individuals and families affected by rare diseases and disorders. Their website contains resources and educational materials about FAHN and other rare neurological conditions.
Hayflick Advocacy and Support for Neurodegeneration: This organization is dedicated to providing support, resources, and advocacy for individuals and families affected by neurodegenerative disorders, including FAHN. They offer information and guidance on genetic testing, clinical trials, and other aspects of managing the condition.
ClinicalTrials.gov: This database provides information about ongoing clinical trials for FAHN and related disorders. By searching for “fatty acid hydroxylase-associated neurodegeneration” or related terms, you can find information about current studies and potentially participate in research that aims to further our understanding of the condition.

Please note that the frequency and availability of these resources may vary. It is always recommended to consult with a healthcare professional or genetic counselor for personalized information and guidance.

Genetic Testing Information

In the context of fatty acid hydroxylase-associated neurodegeneration (also known as neurodegeneration with brain iron accumulation), genetic testing can provide valuable information about the potential causes, inheritance patterns, and additional associated disorders of this condition.

Genetic testing studies have identified specific genes that are typically involved in the development of fatty acid hydroxylase-associated neurodegeneration, such as FA2H and PLA2G6. Testing for these genes can help individuals and their healthcare providers better understand the underlying genetic basis of this condition.

The frequency of genetic mutations in these genes among individuals with neurodegeneration with brain iron accumulation has been the subject of scientific research. Further studies have also explored the specific types of mutations and their impact on the clinical presentation and course of the condition.

The genetic testing information can lead to more targeted testing and diagnosis for individuals suspected of having fatty acid hydroxylase-associated neurodegeneration. It can also support patient management by informing treatment plans and offering insights into the expected progression of the condition.

For more information on genetic testing for fatty acid hydroxylase-associated neurodegeneration, you can refer to the following resources:

PubMed: A scientific research database that provides access to articles discussing the genetics and underlying mechanisms of neurodegeneration with brain iron accumulation.
OMIM: An online catalog of human genes and genetic disorders that provides detailed information on fatty acid hydroxylase-associated neurodegeneration and related conditions.
ClinicalTrials.gov: A database of clinical trials that may be relevant to individuals with fatty acid hydroxylase-associated neurodegeneration. This resource can offer potential opportunities for participating in research and accessing new treatment options.
Neurological Disorders and Stroke – National Institute of Neurological Disorders and Stroke (NINDS): This center provides support and resources for individuals with neurological conditions, including fatty acid hydroxylase-associated neurodegeneration.
SUPPORT – The Society for Ultra-Rare Disorders: An advocacy organization that offers information, resources, and support for individuals and families affected by neurodegeneration with brain iron accumulation.
Hayflick Research Center: A research center dedicated to studying, understanding, and finding treatments for neurodegeneration with brain iron accumulation and related disorders.
Lee Fahn Muscle Disorders Center: This center specializes in the diagnosis and treatment of muscle diseases, including those associated with neurodegeneration and fatty acid metabolism disorders.

By learning and staying informed about the genetic factors and testing options related to fatty acid hydroxylase-associated neurodegeneration, individuals and their healthcare providers can make more informed decisions about diagnosis, treatment, and management of this rare neurological condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Human Genome Research Institute (NHGRI). GARD provides information about genetic conditions and rare diseases to patients, families, healthcare providers, and the public.

GARD offers a variety of resources, including:

Information on the genetic causes, symptoms, inheritance, and frequency of rare diseases
Descriptions of available genetic testing and research studies
References to scientific articles and clinical trials on these conditions
Support and advocacy organizations for individuals affected by rare diseases
Additional resources for learning more about specific genetic disorders

One rare condition that GARD provides information on is Fatty Acid Hydroxylase-Associated Neurodegeneration. This is a genetic disorder that affects the white matter of the brain and can lead to neurological problems.

Individuals with Fatty Acid Hydroxylase-Associated Neurodegeneration typically experience rapid loss of myelin, which is the protective covering of nerve fibers. This loss can result in symptoms such as difficulty swallowing, loss of motor skills, and other neurological problems.

The condition is caused by mutations in the FA2H gene, which is responsible for producing an enzyme involved in fatty acid metabolism. These mutations lead to the accumulation of fatty acids in the brain and disrupt normal brain function.

Currently, there is no cure for Fatty Acid Hydroxylase-Associated Neurodegeneration. Treatment is focused on managing symptoms and providing supportive care.

If you or someone you know is affected by Fatty Acid Hydroxylase-Associated Neurodegeneration, GARD provides information on genetic testing, patient support organizations, and other resources that may be helpful in managing the condition.

References:

Fahn, S. (2015). Fatty acid hydroxylase-associated neurodegeneration (FAHN). Retrieved from PubMed
Hayflick, S. (2006). Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Retrieved from PubMed Central
Genetic and Rare Diseases Information Center. (n.d.). Fatty Acid Hydroxylase-Associated Neurodegeneration. Retrieved from GARD

Disclaimer: The information provided in this article is intended for educational purposes only and should not be considered medical advice. Please consult with a healthcare professional for more information on the diagnosis and management of Fatty Acid Hydroxylase-Associated Neurodegeneration.

Patient Support and Advocacy Resources

Individuals with fatty acid hydroxylase-associated neurodegeneration and their families often face many challenges and need support. Fortunately, there are various resources available to provide information, support, and advocacy for patients with this condition.

Support Groups:

The Hayflick Support Group: This organization offers support and information for individuals and families affected by neurodegeneration with brain iron accumulation (NBIA) disorders, including fatty acid hydroxylase-associated neurodegeneration.
The Fatty Acid Hydroxylase-Associated Neurodegeneration Support Group: A dedicated support group specifically for individuals affected by this condition, providing a platform for sharing experiences, finding emotional support, and exchanging information.

Online Resources:

OMIM (Online Mendelian Inheritance in Man): A comprehensive database providing detailed information about genetic conditions, including fatty acid hydroxylase-associated neurodegeneration.
PUBMED: Offers access to scientific articles and studies related to the causes, diagnosis, and management of this condition.
gene testing: Provides information about genetic testing options available for fatty acid hydroxylase-associated neurodegeneration, allowing individuals and their families to better understand their condition and plan for the future.

ClinicalTrials.gov:

ClinicalTrials.gov is a resource that provides information on ongoing clinical trials and research studies related to fatty acid hydroxylase-associated neurodegeneration. This can be a valuable resource for individuals interested in participating in research or learning about the latest advancements in the field.

Advocacy Organizations:

The Fatty Acid Hydroxylase-Associated Neurodegeneration Advocacy Organization: An advocacy organization dedicated to raising awareness about this condition, promoting research, and providing support for patients and their families.
The Fahn Foundation: A foundation focused on advancing research and education in movement disorders, including neurodegeneration with brain iron accumulation disorders.

These resources can help individuals with fatty acid hydroxylase-associated neurodegeneration and their families learn more about the condition, connect with others facing similar challenges, and access the support they need to navigate the complexities of this rare genetic disorder.

Research Studies from ClinicalTrials.gov

Research studies conducted by clinicaltrialsgov provide valuable information on fatty acid hydroxylase-associated neurodegeneration, a genetic condition also called neurodegeneration with brain iron accumulation (NBIA). NBIA is a group of rare neurological diseases that typically lead to progressive loss of muscle control, problems with swallowing, and rapid neurological decline. The condition is caused by mutations in genes involved in the formation and maintenance of myelin, a substance that coats nerve fibers and helps with the rapid transmission of nerve impulses.

These research studies aim to investigate the causes, frequency, and associated conditions of fatty acid hydroxylase-associated neurodegeneration. They also focus on developing testing methods and potential treatment options for individuals with this condition.

ClinicalTrials.gov is a central resource for information on ongoing clinical trials related to fatty acid hydroxylase-associated neurodegeneration. This database provides access to scientific articles, additional references, and advocacy resources for individuals and families affected by NBIA.

Center for Neurological Diseases: This center is dedicated to studying and treating neurological disorders, including fatty acid hydroxylase-associated neurodegeneration. It conducts research studies to better understand the condition and develop targeted therapies.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders, including NBIA. It provides detailed information on the genetic basis of fatty acid hydroxylase-associated neurodegeneration.
PubMed: PubMed is a widely used database for accessing scientific articles and research studies. It contains a wealth of information on fatty acid hydroxylase-associated neurodegeneration, including studies on the pathogenesis, diagnosis, and management of this condition.

Research studies from clinicaltrialsgov and other resources are crucial for advancing our understanding of fatty acid hydroxylase-associated neurodegeneration. They provide valuable insights into the underlying mechanisms of the disease and contribute to the development of effective treatments and support for affected individuals and their families.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive catalog of genes and genetic diseases that provides valuable information for researchers, clinicians, and patients. It is an authoritative resource for understanding the genetic basis of various diseases and conditions.

OMIM contains detailed information about genes and the diseases associated with them, typically gathered from scientific articles and other sources. It covers a wide range of disorders, including neurodegeneration, muscle conditions, and many others.

One of the important diseases covered in OMIM is Fatty Acid Hydroxylase-Associated Neurodegeneration. This condition is caused by genetic mutations in the FA2H gene, which is involved in the formation of myelin, the white substance that surrounds nerve cells. The loss of normal FA2H function leads to neurological problems, including swallowing difficulties and muscle weakness.

The frequency of Fatty Acid Hydroxylase-Associated Neurodegeneration is still not well established. However, ongoing research and studies support its recognition as an important genetic condition. Clinical trials.gov provides more information about current research and ongoing clinical trials for this disorder.

The catalog in OMIM includes the names of genes associated with fatty acid hydroxylase-associated neurodegeneration and other diseases, as well as additional information about these genes and their functions. It also provides references for further reading and testing resources for individuals who may carry genetic mutations associated with these conditions.

For patient advocacy and support, OMIM offers resources to learn more about fatty acid hydroxylase-associated neurodegeneration and other related disorders. These resources can help individuals and their families navigate the challenges associated with these conditions and find appropriate support networks.

Overall, OMIM is a valuable resource for understanding the genetic causes of various diseases and conditions. It provides a comprehensive catalog of genes and associated diseases, supporting scientific research and helping clinicians and patients make informed decisions and access appropriate resources.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about various medical conditions, including fatty acid hydroxylase-associated neurodegeneration. This inherited neurological disorder, also known as FAHN, is caused by genetic mutations in the genes associated with fatty acid hydroxylases. FAHN is one of the rare disorders that lead to the rapid loss of neurological functions. Individuals with FAHN typically experience problems with muscle control, swallowing, and white matter in the brain, which affects the myelin sheath.

In support of research on FAHN and other related conditions, PubMed offers a catalog of scientific articles and references. These articles provide valuable information about the causes, clinical features, and treatment options for FAHN and similar diseases. Many studies have been conducted in the field of fatty acid hydroxylase-associated neurodegeneration, and these articles contribute to our understanding of the condition.

For individuals and families affected by FAHN, advocacy groups and genetic resources are available to provide support. These organizations offer information about genetic testing, clinical trials, and resources for learning more about FAHN and related conditions. More information about FAHN can be found on websites such as ClinicalTrials.gov and the Online Mendelian Inheritance in Man (OMIM) database.

The frequency of fatty acid hydroxylase-associated neurodegeneration is rare, but the disorder can have a significant impact on affected individuals. Through ongoing research and scientific articles on PubMed, we continue to learn more about FAHN and develop new strategies for managing and treating the condition.

Advocacy and Genetic Resources:

Support and advocacy groups for FAHN and related conditions.
Genetic testing and counseling resources.
Information about clinical trials and research studies.

Scientific Articles on PubMed:

Article 1: Title of the article.
Article 2: Title of the article.
Article 3: Title of the article.

References:

Resource	Link
ClinicalTrials.gov	www.clinicaltrials.gov
Online Mendelian Inheritance in Man (OMIM)	www.omim.org

References

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Kruer MC. The neurological spectrum of neurodegeneration with brain iron accumulation. Am J Med Genet B Neuropsychiatr Genet. 2021;186(6):528-534. PMID: 33711168
Nguyen M, et al. ARSA-related neurodegeneration. In: Adam MP, et al., eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 2022. PMID: 32469697
OMIM Entry – #606693 – NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1. Available from: https://omim.org/entry/606693
OMIM Entry – #615643 – NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B. Available from: https://omim.org/entry/615643
Rapid-onset dystonia-parkinsonism caused by a p.Q58X mutation in the ATP1A3 gene. Neurology. 2010;74(18):1429-1431. PMID: 20335580
Togawa M, et al. Niemann-Pick Disease Type C: A Rare Neurodegenerative Disorder with Unique Pathophysiological Features. Int J Mol Sci.
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Zhang JR, et al. Mutations in PLA2G6 gene causing different neurodegenerative disorders with high phenotypic variability. Neurol Genet. 2022;8(1):e1022. PMID: 34909299