Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder. It is also called pla2g6-related neurodegeneration, as it is caused by mutations in the PLA2G6 gene. INAD is mainly characterized by progressive neurodegeneration, leading to severe motor and cognitive impairment.

The frequency of INAD is estimated at 1 in 200,000 to 1 in 1,000,000 births. It affects both boys and girls, although some studies suggest a slightly higher prevalence in boys. The disorder usually appears in the first year of life, with symptoms including delayed motor development, muscle weakness, seizures, and visual impairment.

Research on INAD is ongoing, and there are multiple studies and clinical trials that focus on understanding the underlying causes, mechanisms, and potential treatments for this condition. The Hayflick NeuroAxonal Dystrophy Research Center is one of the leading centers for research on INAD and other related neurodegenerative diseases.

There are several articles and resources available that provide more information about INAD, its associated disorders, genetic testing, and support for affected families. The Online Mendelian Inheritance in Man (OMIM) database and the National Institute of Neurological Disorders and Stroke (NINDS) are two reliable sources for comprehensive information on this condition.

Advocacy organizations and support groups also play a vital role in providing information and support to families affected by INAD. These organizations help connect families with research studies, clinical trials, and other resources that may be beneficial for managing the disease.

Overall, INAD is a rare and severe condition that leads to progressive neurodegeneration in affected patients. Ongoing research and advances in genetic testing and understanding of the underlying genes and pathways involved in neuroaxonal function continue to contribute to our knowledge of this condition.

Frequency

Infantile neuroaxonal dystrophy (INAD) is a rare genetic condition characterized by progressive neurodegeneration. It is one of the neurodegeneration with brain iron accumulation (NBIA) disorders, which are a group of inherited neurodegenerative disorders associated with abnormal iron deposition in the brain.

INAD is caused by mutations in the PLA2G6 gene, which lead to the dysfunction of the PLA2G6 protein. This protein is involved in the breakdown of fats in cell membranes and plays a role in maintaining the normal functioning of neurons.

The frequency of INAD is not well-established, but it is considered a rare disease. INAD has been reported in different populations worldwide, and more cases are being identified with the advancement of genetic testing and research.

According to the scientific literature and the NBIA Disorders Association, the frequency of INAD is estimated to be around 1 in 1 million individuals. However, this number may vary depending on the population and the availability of genetic testing.

In addition to the PLA2G6 gene, other genes have also been associated with infantile neuroaxonal dystrophy, including the ATP13A2 gene and the FA2H gene. Mutations in these genes can cause a similar neurodegenerative condition with overlapping symptoms.

Further research and genetic testing are needed to better understand the frequency and genetic causes of infantile neuroaxonal dystrophy. The scientific community and advocacy organizations, such as the NBIA Disorders Association and the Hayflick Foundation, are working to support research, raise awareness, and provide support for affected individuals and their families.

For more information about infantile neuroaxonal dystrophy, you can refer to the following resources:

OMIM – Online Mendelian Inheritance in Man: a catalog of genes and genetic disorders (http://www.omim.org)
National Institute of Neurological Disorders and Stroke (NINDS): information on neurodegenerative disorders (https://www.ninds.nih.gov/)
PubMed: a database of scientific articles (https://pubmed.ncbi.nlm.nih.gov/)
ClinicalTrials.gov: information on ongoing clinical trials (https://clinicaltrials.gov/)

By learning more about the frequency and causes of infantile neuroaxonal dystrophy, we can contribute to the advancement of scientific understanding and the development of potential treatments for this rare condition.

Causes

Infantile neuroaxonal dystrophy (INAD) is a rare genetic disorder characterized by progressive neurodegeneration. There are several known genetic mutations that can cause this condition, with the most common being PLA2G6-related neurodegeneration.

PLA2G6-related neurodegeneration is caused by mutations in the PLA2G6 gene, which provides instructions for making an enzyme called iPLA2. This enzyme is involved in the breakdown of fats (lipids) in cells, and plays a role in the normal functioning of the nervous system. Mutations in the PLA2G6 gene impair the function of the iPLA2 enzyme, leading to the neurodegeneration seen in INAD.

Other genetic mutations have also been associated with INAD. For example, mutations in the gene FA2H are associated with a form of INAD known as fatty acid hydroxylase-associated neurodegeneration. Mutations in the ATP13A2, WDR45, and C19orf12 genes have also been found in some cases of INAD.

The exact inheritance pattern of INAD can vary depending on the specific genetic mutation involved. Most cases are inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present. Rarely, INAD can be inherited in an autosomal dominant manner, where only one copy of the gene mutation is needed for the condition to occur.

It is important to note that not all cases of neuroaxonal dystrophy are classified as INAD. There are other forms of neuroaxonal dystrophy that have different genetic causes, such as beta-propeller protein-associated neurodegeneration (BPAN) and mitochondrial membrane protein-associated neurodegeneration (MPAN). Each of these conditions is associated with specific genes and inheritance patterns.

Scientific research is ongoing to better understand the causes of INAD and other neuroaxonal dystrophies. Studies are performed to identify additional genes that can contribute to the development of these disorders.

For more information about the genetic causes of INAD, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) database and the NBIA Disorders Association website. These resources provide valuable information on the genes associated with infantile neuroaxonal dystrophy, as well as information on ongoing clinical trials and patient advocacy groups.

References:

Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin Pediatr Neurol. 2006;13(3):182-185. doi:10.1016/j.spen.2006.10.006
Gissen P, Hayflick SJ. Early infantile neuroaxonal dystrophy: an update. Neurol. 2005;64(10):1801-1805. doi:10.1212/01.WNL.0000163985.04343.96
Genetic Testing for PLA2G6-Related Neurodegeneration. National Center for Advancing Translational Sciences. 2019. Available at: https://www.clinicaltrials.gov
PLA2G6-Related Neurodegeneration. Genetics Home Reference. 2022. Available at: https://ghr.nlm.nih.gov
Infantile Neuroaxonal Dystrophy. NBIA Disorders Association. 2022. Available at: https://www.nbiadisorders.org

Learn more about the gene associated with Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy (INAD) is a rare genetic disorder characterized by neurodegeneration in the central and peripheral nervous systems. This neurodegeneration leads to developmental delays and progressive impairment of motor and cognitive abilities. INAD is often caused by mutations in the PLA2G6 gene, which provides instructions for making an enzyme called phospholipase A2 group VI.

The PLA2G6 gene is located on chromosome 22 and is involved in the breakdown of fats in the body. Mutations in this gene can disrupt the function of the phospholipase A2 group VI enzyme, leading to the accumulation of lipids in nerve cells. This accumulation ultimately results in the destruction of the nerve cells and the clinical manifestations of INAD.

Research has shown that mutations in the PLA2G6 gene are inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop INAD. Carriers of a single mutation in the PLA2G6 gene typically do not show any symptoms of the disorder.

If you are interested in learning more about the gene associated with INAD, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the PLA2G6 gene, including its function, associated disorders, and reference articles. The NBIA Disorders Association is an advocacy organization for individuals with neurodegeneration with brain iron accumulation (NBIA), which includes INAD. They provide support and resources for affected individuals and their families.

In addition, the NBIA Disorders Association maintains a genetic testing and research center called the Hayflick Lab, which offers clinical testing for PLA2G6-related disorders. The center also conducts research studies on INAD and other NBIA disorders, with the goal of better understanding the disease and developing effective treatments.

For more information on clinical trials related to INAD and other NBIA disorders, you can visit ClinicalTrials.gov. This database provides information on ongoing and completed clinical trials, including those investigating potential treatments for INAD.

In summary, the gene associated with INAD is called PLA2G6. Mutations in this gene contribute to the development of the disorder, leading to neurodegeneration and clinical manifestations of INAD. There are several resources available for individuals and families seeking more information, including the OMIM database, the NBIA Disorders Association, the Hayflick Lab, and ClinicalTrials.gov.

Inheritance

Infantile neuroaxonal dystrophy (INAD) is a rare genetic condition that causes progressive neurodegeneration in affected individuals. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the disease-causing gene – one from each parent – to be affected by the condition.

The gene associated with INAD is called PLA2G6, and mutations in this gene are known to be the primary cause of the disorder. Mutations in the PLA2G6 gene can also cause other neurodegenerative disorders, such as dystonia-parkinsonism or neurodegeneration with brain iron accumulation (NBIA).

Genetic testing is available to confirm a diagnosis of INAD or other diseases caused by mutations in the PLA2G6 gene. Testing can identify specific genetic changes, called variants, in the gene that contribute to the condition. This information can be used to provide patients and their families with additional information and support, such as access to resources, advocacy organizations, and clinical trials.

There are several resources available to learn more about INAD and related disorders. One such resource is the Hayflick Neuroacanthocytosis Research Center, which provides information, support, and resources for patients and their families. The center has a catalog of articles, scientific references, and other information about these disorders.

More information about genetic testing and the specific genes associated with INAD and related diseases can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on the frequency of specific gene variants in the general population, as well as the clinical symptoms and function of the genes.

In summary, INAD is a rare neurodegenerative disorder that is inherited in an autosomal recessive manner. Mutations in the PLA2G6 gene are the primary cause of INAD, as well as other related neurodegenerative disorders. Genetic testing can confirm a diagnosis and provide patients and their families with additional information and support resources.

Other Names for This Condition

Infantile neuroaxonal dystrophy
INAD
PLA2G6-related neurodegeneration
PLA2G6-related neuroaxonal dystrophy
Infantile neuroaxonal dystrophy 1
INAD1
PLAN
Neuroaxonal dystrophy, infantile
Neuroaxonal dystrophy
Types of NBIA
Gissen’s Syndrome
INAD2
Neuroaxonal dystrophy
β-propeller protein-associated neurodegeneration
Infantile neuroaxonal dystrophy type 1

Source: OMIM and GARD

Additional Information Resources

For more information about Infantile Neuroaxonal Dystrophy (INAD) and related disorders, you can refer to the following resources:

NEURON: The European Network on Rare Diseases – NEURON is a research network that focuses on rare diseases, including INAD. They provide information about ongoing studies, research articles, and additional resources for patients and their families.
National Institute of Neurological Disorders and Stroke (NINDS) – NINDS conducts and supports scientific research on various neurological disorders. They have valuable information about neuroaxonal dystrophy and the associated genes, like PLA2G6.
Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information about the PLA2G6 gene, its functions and mutations found in cases of neurodegeneration with brain iron accumulation (NBIA).
NIH Genetic Testing Registry – The NIH Genetic Testing Registry provides information about genetic testing laboratories and the tests they offer. You can find details about testing for the PLA2G6 gene mutations and their association with infantile neuroaxonal dystrophy.
National Center for Advancing Translational Sciences (NCATS) – NCATS provides genetic and clinical information about infantile neuroaxonal dystrophy. They also support clinical trials related to this rare condition. You can find more information about ongoing clinical trials on their website and clinicaltrialsgov.
Hayflick Foundation – The Hayflick Foundation is an advocacy and research center that focuses on neurodegenerative diseases, including neuroaxonal dystrophy. They provide support and information for affected patients and their families, as well as resources for scientific research.

Each of these resources can provide valuable information about the condition, its symptoms, inheritance patterns, and potential treatment options. You can learn more about the genetic causes of infantile neuroaxonal dystrophy and the associated genes from scientific articles available on PubMed and other research databases.

Genetic Testing Information

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by the progressive loss of nerve cells in the brain and spinal cord. INAD is caused by mutations in the PLA2G6 gene, which is inherited in an autosomal recessive manner.

Genetic testing can aid in the diagnosis of INAD and provide valuable information about the condition. By analyzing a patient’s DNA, genetic testing can identify mutations in the PLA2G6 gene that are associated with INAD. This information can help confirm a diagnosis and provide insight into the inheritance pattern of the condition.

There are different types of genetic testing available for INAD, including targeted mutation analysis and gene sequencing. Targeted mutation analysis looks for specific known mutations in the PLA2G6 gene, while gene sequencing examines the entire gene for any potential mutations.

Genetic testing can also be used to diagnose other neurodegenerative disorders that may have similar features to INAD, such as NBIA (neurodegeneration with brain iron accumulation) disorders.

Additionally, genetic testing can contribute to research on INAD and related diseases. By studying the genes involved in neuroaxonal dystrophy, researchers can learn more about the underlying causes and function of these disorders. This information can lead to the development of new treatments and therapies for affected individuals.

If you or someone you know is affected by INAD or another neuroaxonal dystrophy, genetic testing may provide valuable information and support. It is important to consult with a genetic counselor or medical professional to learn more about the testing process and available resources.

For more information about genetic testing for INAD and related disorders, you can refer to the following resources:

The National Institute of Neurological Disorders and Stroke (NINDS)
The National Organization for Rare Disorders (NORD)
The Genetic and Rare Diseases Information Center (GARD)
The Online Mendelian Inheritance in Man (OMIM) database
The NBIA Disorders Association

References:

Hayflick, S. J. (2006). Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Seminars in pediatric neurology, 13(3), 182-185.
Gissen, P., et al. (2009). PLA2G6-associated neurodegeneration: new insights into brain abnormalities and disease mechanisms. Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids, 1792(9), 816-825.
Neurol, I. N. B. I. A. Disorders Association. (2015). PLA2G6-Associated Neurodegeneration (PLAN). Retrieved from https://www.nbiadisorders.org/glossary/plan/
ClinicalTrials.gov. (2021). Search results for infantile neuroaxonal dystrophy. Retrieved from https://clinicaltrials.gov/ct2/results?term=infantile+neuroaxonal+dystrophy&Search=Apply&age_v=&gndr=&type=Intr&rslt=
PubMed.gov. (2021). Search results for infantile neuroaxonal dystrophy. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=infantile+neuroaxonal+dystrophy

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on rare genetic diseases including Infantile Neuroaxonal Dystrophy (INAD) and its associated disorders.

INAD is a rare neurodegenerative disorder that primarily affects infants. It is characterized by the progressive degeneration of nerve fibers in the brain, which eventually leads to severe neurological symptoms.

GARD provides information on the signs and symptoms, causes, inheritance patterns, and available genetic testing for INAD and other related diseases. It also offers resources for support and advocacy for affected individuals and their families.

The GARD website features articles and publications on various aspects of INAD and related disorders. It includes references to scientific research articles, clinical trials listed on ClinicalTrials.gov, and relevant resources from other reliable sources.

Genes associated with INAD and other neurodegenerative disorders, such as PLA2G6-related neurodegeneration, are discussed in detail on the GARD website. Each gene is explained in terms of its role in the development of the condition, and references to scientific articles and resources are provided for further reading.

The GARD website also provides information on the frequency of INAD and related disorders, as well as the availability of genetic testing for these conditions. It offers guidance on finding testing centers and accessing patient resources.

In addition, the GARD website discusses the clinical characteristics of INAD and related disorders, including information on the specific symptoms, their progression, and available treatments. It also lists other names and OMIM numbers associated with these conditions for easy reference.

GARD aims to support patients and their families by providing comprehensive and up-to-date information on rare genetic diseases, including INAD. It encourages further research and scientific advancements in the field to improve diagnosis, treatment, and understanding of these disorders.

For more information and resources on INAD and related disorders, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Infantile neuroaxonal dystrophy (INAD) is a rare genetic disorder associated with neurodegeneration. It is also called PLA2G6-related neurodegeneration or PLAN. This condition is caused by mutations in the PLA2G6 gene, which plays a role in the maintenance and function of nerve cells.

Research Studies from ClinicalTrials.gov

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative condition that affects infants and young children. It is characterized by the progressive loss of nerve fibers in specific areas of the brain.

Cases of INAD are caused by mutations in the PLA2G6 gene, which codes for a protein involved in the normal function of nerve cells. Mutations in this gene lead to a deficiency of the protein, which eventually contributes to the neurodegeneration seen in INAD.

Research studies conducted by ClinicalTrials.gov have focused on understanding the molecular mechanisms underlying INAD and developing potential treatments for the disease. Additional studies have investigated the genetic causes of INAD and its associated disorders. These studies have provided valuable insights into the inheritance patterns, genes involved, and clinical features of the disease.

One study, conducted by Hayflick and colleagues, identified a new form of INAD called PLA2G6-related neurodegeneration. This form is associated with mutations in the PLA2G6 gene and has similar clinical features to INAD, but with additional symptoms such as iron accumulation in the brain.

ClinicalTrials.gov provides resources for patients and their families to learn more about INAD and related diseases. The website offers information on ongoing and completed clinical trials, as well as advocacy and support organizations. Patients and their families can also find articles and scientific references about the genetics and function of the PLA2G6 gene.

In addition to INAD, ClinicalTrials.gov is a valuable resource for researching other rare neuroaxonal diseases. The website provides information on clinical studies and genetic testing for these conditions, which can help in their diagnosis and management.

Genetic testing is an important part of diagnosing neuroaxonal disorders. By identifying specific mutations in the genes associated with these diseases, healthcare professionals can provide more accurate diagnoses and tailor treatment plans to individual patients.

Some of the more common neuroaxonal disorders include NBIA (neurodegeneration with brain iron accumulation) and GISS (Galloway-Mowat syndrome). Each of these conditions is associated with mutations in different genes and has its own set of clinical features.

To learn more about these rare neuroaxonal diseases and the research studies being conducted on them, ClinicalTrials.gov is a valuable resource. The website provides information on ongoing and completed studies, as well as links to scientific articles and references. It also contains a catalog of genes associated with neuroaxonal disorders and their associated diseases.

In conclusion, research studies conducted by ClinicalTrials.gov have provided valuable insights into the genetic causes, clinical features, and potential treatments for neuroaxonal disorders such as infantile neuroaxonal dystrophy. By studying the function of genes associated with these disorders, researchers hope to develop better diagnostic tools and targeted therapies for affected individuals.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database catalogues information about genes and genetic diseases. In the context of infantile neuroaxonal dystrophy (INAD), OMIM provides valuable resources and scientific support.

Neuroaxonal dystrophy is a rare neurodegenerative condition that leads to progressive impairment of motor and cognitive function. INAD is one type of neuroaxonal dystrophy, often associated with PLA2G6-related disorders.

OMIM offers a catalog of genes associated with INAD and other related disorders. One of the affected genes is called PLA2G6, which has been found to contribute to neuroaxonal degeneration. Additional genes and genetic factors that may be associated with INAD can also be found in the OMIM catalog.

Patient information, scientific articles, and studies on neuroaxonal dystrophy and related conditions can be accessed through OMIM. This information supports the understanding and diagnosis of INAD and helps healthcare professionals and researchers in their work.

OMIM also provides information on the inheritance patterns and frequency of the condition, emphasizing its rarity. This information can be valuable for genetic counseling and testing purposes.

For more resources and support related to infantile neuroaxonal dystrophy, organizations such as the NBIA Disorders Association and the Hayflick Surgical Center provide advocacy, information, and clinical trial information. These resources can help patients and their families learn more about the condition, its causes, and available testing options.

In summary, OMIM offers a comprehensive catalog of genes and diseases, including infantile neuroaxonal dystrophy, that can contribute to the understanding and research of these rare conditions. It serves as a valuable resource for healthcare professionals, researchers, and patients seeking information and support.

Scientific Articles on PubMed

Infantile neuroaxonal dystrophy (INAD) is a rare neurological disorder characterized by neurodegeneration in the brain and spinal cord. INAD primarily affects infants and typically leads to progressive loss of motor function.

Research articles on PubMed provide valuable scientific information about INAD. These articles can contribute to our understanding of the causes, inheritance patterns, and frequency of this condition. PubMed is a comprehensive resource for accessing scientific literature on a wide range of medical topics including rare diseases like INAD.

Scientific studies have identified several genes, such as PLA2G6 and GBA2, that are associated with the development of neuroaxonal dystrophy. These genes play a role in the function of neurons and their disruption can lead to neurodegeneration observed in INAD cases.

PubMed provides a catalog of publications about INAD, allowing researchers and healthcare professionals to access valuable information about the condition. The catalog includes articles on diagnostic testing, clinical trials, and treatment options for INAD patients.

Some of the scientific articles available on PubMed include:

“Infantile neuroaxonal dystrophy: frequency and clinical, pathoanatomical and genetic aspects” – This study explores the frequency and clinical characteristics of cases with neuroaxonal dystrophy.
“Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis” – This article provides updated information on the diagnosis of infantile neuroaxonal dystrophy and its association with PLA2G6 gene mutations.
“Genetic testing for infantile neuroaxonal dystrophy” – This study discusses the role of genetic testing in diagnosing infants with neuroaxonal dystrophy and the importance of early detection.

These scientific articles on PubMed and other resources provide a wealth of information about infantile neuroaxonal dystrophy. Researchers and healthcare professionals can learn about the causes, symptoms, and potential treatments for this rare condition. The information obtained from these studies and resources can support further research and contribute to improved patient care.

References

OMIM: Online Mendelian Inheritance in Man. OMIM Entry – #256600 – Infantile Neuroaxonal Dystrophy 1; INAD1. Available from: https://www.omim.org/entry/256600
Neurol Genet. 2016 Feb; 2(1): e63. Published online 2016 Jan 14. doi: 10.1212/NXG.0000000000000063. Infantile neuroaxonal dystrophy caused by PLA2G6 mutations: Expansion of the genotypic and phenotypic spectrum. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856449/
Gene Reviews. PLA2G6-Associated Neurodegeneration. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1673/
Hayflick SJ. N Engl J Med. 2003 Mar 20;348(12): 1257–1266. N Engl J Med, 2003. 348(12): p. 1257-66. PMID: 12646666
Orphanet. PLA2G6-associated neurodegeneration. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search_Search_diseaseType=ORPHA&title=PLA2G6-associated-neurodegeneration&search=Disease_Search_Simple
PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/
NIH Office of Rare Diseases Research (ORDR). Infantile Neuroaxonal Dystrophy. Available from: https://rarediseases.info.nih.gov/diseases/9602/infantile-neuroaxonal-dystrophy
Neurodegeneration with Brain Iron Accumulation Disorders Information Page. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Disorders-Information-Page
The GDCP Database of Genes Associated with Neurodegeneration with Brain Iron Accumulation. Available from: https://dp.rarediseasesnetwork.org/reports/sites/DP/Genes/Conditions/NBIA/Dependencies/GDMP/NBIA_Genome_in.txt
Gissen P, et al. The development of intellectual disability in PLA2G6-associated neurodegeneration (PLAN). Available from: https://ncbi.nlm.nih.gov/pubmed/16009883
Infantile Neuroaxonal Dystrophy. Information on clinical trials can be found on https://clinicaltrialsgov.