Ataxia with vitamin E deficiency (AVED) is an autosomal recessive condition that is characterized by neurological symptoms caused by a deficiency in α-tocopherol, a form of vitamin E. This rare genetic disorder affects the central nervous system and is associated with nerve cell degeneration. AVED is caused by mutations in the TTPA gene, which is responsible for α-tocopherol transfer protein production. Without this protein, vitamin E cannot be properly absorbed and utilized by the body.

The main symptoms of AVED usually appear during childhood or adolescence and include progressive ataxia, muscle weakness, loss of coordination, and impaired sensory perception. If left untreated, the condition can lead to severe neurological consequences and significantly impact the patient’s quality of life. Early diagnosis is crucial in order to provide proper support and intervention for affected individuals.

Testing for AVED can be done through genetic testing, which can identify mutations in the TTPA gene. Genetic counseling and advocacy groups can provide more information about the condition and support for affected individuals and their families. The ClinicalTrials.gov website also provides information about ongoing clinical trials for AVED and other related diseases.

Scientific research and studies have provided valuable information about the causes and inheritance patterns of AVED. PubMed is an excellent resource for finding articles and studies related to AVED and vitamin E deficiency. The OMIM database and Genetic Testing Registry catalog genetic information and references on this condition and other associated genes and diseases. Additional support and resources can be found from organizations such as the National Ataxia Foundation and other rare disease advocacy groups.

Frequency

The frequency of ataxia with vitamin E deficiency is not well established.

Causes of ataxia with vitamin E deficiency can be genetic or acquired. Genetic causes include mutations in the ALPL, ANO10, CACNA1A, GBA, MRE11A, NPC1, PANK2, PLAT, POLR3A, RNF170, SETX, SIL1, SLC20A2, SPG11, STUB1, and SYNE1 genes. Acquired causes include malabsorption, liver disease, pancreatitis, and cholestasis. In some cases, the specific cause cannot be determined.

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Ataxia with vitamin E deficiency is also known by other names, including AVED and Friedreich-like ataxia with selective vitamin E deficiency.

The frequency of ataxia with vitamin E deficiency varies among different populations. The condition is considered rare. The exact prevalence is unknown.

Clinical features of ataxia with vitamin E deficiency typically manifest in childhood or early adulthood. Symptoms include progressive ataxia (loss of muscle coordination) and peripheral neuropathy (damage to nerve cells outside of the brain and spinal cord). The severity and progression of symptoms can vary among affected individuals.

Diagnosis of ataxia with vitamin E deficiency is based on clinical features, low α-tocopherol levels in blood, and genetic testing. A deficiency in α-tocopherol (a form of vitamin E) is typically present in affected individuals.

Management of ataxia with vitamin E deficiency includes high-dose vitamin E supplementation and dietary changes. Genetic counseling may be recommended for affected individuals and their families.

Support and advocacy organizations can provide additional information and resources for patients and their families. These organizations include Ataxia UK, the National Ataxia Foundation, and the Genetic and Rare Diseases Information Center.

Research studies and clinical trials are ongoing to learn more about the frequency and genetic causes of ataxia with vitamin E deficiency. PubMed and OMIM are valuable resources for scientific articles and genetic information.

References:

• ClinicalTrials.gov – A database of privately and publicly funded clinical studies conducted around the world. This resource provides information about ongoing and completed clinical trials on ataxia with vitamin E deficiency.

• OMIM – A comprehensive catalog of genes and genetic disorders. This resource provides detailed information about the genetic causes, clinical features, and associated conditions of ataxia with vitamin E deficiency.

• PubMed – A database of scientific articles in the field of medicine. This resource can be used to find relevant research studies and articles on ataxia with vitamin E deficiency.

Additional information and resources can be found on the websites of support and advocacy organizations, as well as through genetic testing and research studies.

Causes

The cause of ataxia with vitamin E deficiency is a mutation in the α-tocopherol transfer protein gene (TTPA). This gene provides instructions for making a protein that is involved in the transport of α-tocopherol (a form of vitamin E) in the body.

People with ataxia with vitamin E deficiency have mutations in both copies of the TTPA gene in each cell. Inheritance of this condition is autosomal recessive, which means both copies of the gene in each cell have mutations.

Research studies have shown that mutations in the TTPA gene result in a deficiency of α-tocopherol in the body. This deficiency leads to damage of the central nervous system, particularly the nerve cells that control movement. The exact mechanism by which the mutations in the TTPA gene cause this damage is not fully understood and is the subject of ongoing scientific research.

Deficiency of α-tocopherol due to mutations in the TTPA gene is a rare genetic condition. The frequency of this condition is not well established, but it is believed to be less than 1 in 100,000 individuals. This condition has been found to occur more frequently in certain regions, such as the Mediterranean and Middle Eastern countries.

Additional genetic and environmental factors may also influence the severity and progression of the condition. Free radicals, which are highly reactive molecules, have been suggested to play a role in the pathogenesis of ataxia with vitamin E deficiency. Free radicals can cause damage to cells and tissues, and it is thought that the deficiency of α-tocopherol may increase the susceptibility of nerve cells to such damage.

The diagnosis of ataxia with vitamin E deficiency is based on clinical features, family history, and laboratory testing. Genetic testing can confirm the presence of mutations in the TTPA gene. Other testing, such as measurement of α-tocopherol levels in the blood and cerebrospinal fluid, can help assess the severity of the deficiency.

There is no cure for ataxia with vitamin E deficiency, but treatment with high doses of α-tocopherol supplements can slow down the progression of the condition and improve symptoms. Regular monitoring and follow-up with a healthcare provider is important to manage the consequences of the deficiency and provide support to the patient and their family.

For more information about the causes of ataxia with vitamin E deficiency, the following resources may be helpful:

• Genetic and Rare Diseases Information Center (GARD): Provides information about this condition, including its genetic causes, inheritance, and additional testing.
• Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders, including ataxia with vitamin E deficiency. Offers detailed information on the genetic basis of this condition.
• PubMed: A database of scientific articles, which can be searched for more information on the causes and consequences of ataxia with vitamin E deficiency.
• ClinicalTrials.gov: Offers information on ongoing clinical studies and trials related to ataxia with vitamin E deficiency. This resource provides updates on the latest research and potential treatment options.

In addition, patient advocacy groups and support organizations may provide valuable resources and support for individuals and families affected by ataxia with vitamin E deficiency.

Learn more about the gene associated with Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by mutations in the TTPA gene, also known as the alpha-tocopherol transfer protein gene. This gene is located on chromosome 8 and is responsible for the production of the alpha-tocopherol transfer protein, which plays a central role in the absorption and transport of vitamin E in the body.

Genetic studies have shown that mutations in the TTPA gene result in a deficiency of alpha-tocopherol in the body, leading to the clinical manifestations of AVED. The frequency of this condition is relatively low, with an estimated prevalence of 1 in 100,000 individuals.

Patients with AVED typically present with progressive cerebellar and peripheral nerve ataxia, which can result in difficulties with coordination, balance, and movement. These symptoms usually appear during childhood or adolescence. One of the distinguishing features of AVED is its excellent response to high-dose vitamin E supplementation, which can help improve or even reverse the neurological symptoms.

For more information on the TTPA gene, additional resources and references can be found from scientific articles, research centers, and advocacy organizations. Some of these include PubMed, OMIM (Online Mendelian Inheritance in Man), clinical trial registries like ClinicalTrials.gov, and genetic testing centers. These resources can provide further insights into the genetics, clinical consequences, and treatment options for AVED. They may also offer support and resources for patients and their families.

In conclusion, the TTPA gene, also known as the alpha-tocopherol transfer protein gene, is associated with Ataxia with vitamin E deficiency. Mutations in this gene cause a deficiency of alpha-tocopherol, leading to the clinical manifestations of AVED. Genetic studies and additional research on this gene can provide more information and support for patients with AVED and other related disorders.

Inheritance

Inheritance of Ataxia with vitamin E deficiency is autosomal recessive, which means that both copies of the 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 they typically do not show signs and symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% chance to be affected, a 50% chance to be a carrier like the parents, and a 25% chance to be unaffected and not a carrier.

Genetic studies of Ataxia with vitamin E deficiency have identified mutations in the TTPA gene, which provides instructions for making a protein called alpha-tocopherol transfer protein. This protein is involved in the transport and distribution of a specific form of vitamin E called alpha-tocopherol. Mutations in the TTPA gene lead to a decrease in the amount of alpha-tocopherol available to cells, causing the neurological problems associated with the condition.

The OMIM database provides a comprehensive catalog of human genes and genetic disorders, including Ataxia with vitamin E deficiency. The database includes information from scientific articles, clinical gene data, and genetic testing resources. The OMIM entry for Ataxia with vitamin E deficiency includes references from PubMed and additional resources for further learning and support.

ClinicalTrials.gov offers information on publicly and privately supported clinical studies of diseases and conditions. Clinical trials testing for Ataxia with vitamin E deficiency can provide valuable information on the causes, consequences, and treatment of this condition.

The Nerve Diseases Support Center offers articles and resources on various neurological conditions, including Ataxia with vitamin E deficiency. Additional information can be found on their website.

Research studies have shown that an inadequate diet, low vitamin E levels, and high levels of free radicals can contribute to the development and progression of Ataxia with vitamin E deficiency. Understanding the genetic and environmental factors associated with this condition can help guide treatment and prevention efforts.

Other forms of central inheritance have been associated with Ataxia with vitamin E deficiency, including autosomal dominant and X-linked inheritance. These forms of inheritance involve different genes and have different patterns of transmission.

Other Names for This Condition

Ataxia with vitamin E deficiency is also known by several other names, including:

• Ataxia, autosomal recessive, with vitamin E deficiency
• AVED
• Ataxia with selective vitamin E deficiency
• Ataxia with isolated vitamin E deficiency
• Ataxia with vitamin E-responsive neuropathy
• AVEN

These alternative names provide additional information about the condition and its effects. The various names help describe the central nerve system involvement, the genetic inheritance pattern (autosomal recessive), and the consequences of vitamin E deficiency.

The condition has been extensively studied and documented, with information available from several resources, including:

• Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
• Advocacy organizations and rare disease support groups
• Clinical research studies
• Scientific articles and publications
• References on PubMed – a database of scientific research articles
• ClinicalTrials.gov – a registry of clinical research trials

These resources provide a wealth of information about the condition, including its genetic causes, associated genes, clinical symptoms and presentations, testing and diagnosis, treatment options, and ongoing research.

Research has established that the condition is caused by mutations in the α-tocopherol transfer protein gene (TTPA gene), which is essential for the proper absorption and utilization of vitamin E. Deficiency of vitamin E, an essential antioxidant, can result in oxidative damage and the progressive neurological symptoms seen in ataxia with vitamin E deficiency.

Patients and their families can benefit from learning more about this condition, its genetic basis, and available resources for support and information. Genetic testing can help confirm the diagnosis and guide treatment strategies, such as vitamin E supplementation and dietary adjustments.

Continued research into ataxia with vitamin E deficiency aims to further understand the genetic and molecular mechanisms underlying the condition, develop targeted therapies, and improve patient outcomes.

Additional Information Resources

• Clinical Trials – Learn about ongoing clinical trials for ataxia with vitamin E deficiency on clinicaltrial.gov.
• Support Groups and Advocacy – Find support, connect with other individuals and families affected by this condition, and learn from advocacy organizations.
• Genetic Testing and Counseling – Learn more about genetic testing options and find a genetic counselor to discuss testing and inheritance.
• Research and Scientific Articles – Access scientific research articles about ataxia with vitamin E deficiency from PubMed.
• OMIM – Get comprehensive information about the genes associated with this condition from the Online Mendelian Inheritance in Man (OMIM) database.
• Gene names and catalog information – Explore the genes and related information in the gene catalog.
• Clinical Centers and Research Studies – Locate specialized centers and ongoing research studies focused on ataxia with vitamin E deficiency.
• Diet and Nutritional Information – Learn about the role of vitamin E in the diet and its effects on nerve function.
• Additional Resources – Find more information about other rare genetic diseases, genetic inheritance, and consequences of vitamin E deficiency on ataxia.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding Ataxia with vitamin E deficiency. This condition is caused by mutations in specific genes that affect the body’s ability to absorb and utilize vitamin E, leading to a deficiency. The consequences of this deficiency can include central nerve system dysfunction and progressive ataxia.

Several genes have been identified as causing Ataxia with vitamin E deficiency, including TTPA, which encodes for the alpha-tocopherol transfer protein. Mutations in this gene lead to impaired transfer of alpha-tocopherol, the active form of vitamin E, resulting in tissue-specific vitamin E deficiency.

Genetic testing for Ataxia with vitamin E deficiency can be done through sequencing of the TTPA gene. This can confirm the diagnosis and identify specific mutations in the gene that may help guide treatment and management options. Genetic testing can also be helpful for identifying carriers of the condition and for family planning purposes.

It is important to note that Ataxia with vitamin E deficiency can have an autosomal recessive inheritance pattern, meaning that both parents must carry a copy of the mutated gene for their child to be at risk. Genetic counseling and testing can provide valuable information about the likelihood of passing on the condition.

For additional information about Ataxia with vitamin E deficiency and genetic testing, the following resources may be helpful:

• OMIM: a comprehensive catalog of human genes and genetic disorders, including Ataxia with vitamin E deficiency
• PubMed: a database of scientific articles where you can find more research on the topic
• ClinicalTrials.gov: a registry of clinical studies that are investigating potential treatments for Ataxia with vitamin E deficiency

Patient advocacy and support groups can also provide resources and information about Ataxia with vitamin E deficiency and genetic testing. These organizations are dedicated to raising awareness, providing support, and advancing research for rare genetic diseases like Ataxia with vitamin E deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about rare diseases and related genes. GARD is a centralized resource that collects and organizes information from various sources, including OMIM, the Online Mendelian Inheritance in Man catalog. GARD provides information on the frequency, inheritance, clinical presentation, and associated genes for each rare disease. It also offers information on clinical trials, advocacy groups, and additional resources for patients and healthcare providers.

Ataxia with vitamin E deficiency is a rare genetic condition that affects the α-tocopherol transfer protein gene. This gene plays a crucial role in transporting α-tocopherol, a form of vitamin E, across cell membranes. Without adequate α-tocopherol, the body’s cells cannot protect themselves from damaging free radicals, leading to nerve damage and the symptoms of ataxia.

The consequences of ataxia with vitamin E deficiency can vary widely from patient to patient. Some individuals may experience mild symptoms, while others may have severe nerve damage and disabling ataxia. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition.

Diagnosis of ataxia with vitamin E deficiency can be confirmed through genetic testing. Genetic testing can detect mutations in the α-tocopherol transfer protein gene, providing valuable information for patient management and genetic counseling.

For more information about ataxia with vitamin E deficiency, GARD provides a comprehensive list of articles and references. These resources include scientific studies, research articles, and information on related conditions. GARD also offers support and information for patients and families affected by ataxia with vitamin E deficiency.

Learn more about Ataxia with vitamin E deficiency on the GARD website.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Ataxia with vitamin E deficiency, it is important to seek support and advocacy resources to help you navigate this condition. Here are some resources that can provide valuable information and support:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genes and genetic diseases. You can search for the specific gene associated with Ataxia with vitamin E deficiency and learn about inheritance patterns, clinical consequences, and additional resources for further information.
• PubMed: PubMed is a widely used database for scientific articles. You can search for research studies and articles related to Ataxia with vitamin E deficiency to stay updated on the latest advances in the field.
• ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about clinical trials for various conditions. You can search for ongoing or upcoming clinical trials related to Ataxia with vitamin E deficiency to see if you or your loved one might be eligible to participate.
• National Ataxia Foundation: The National Ataxia Foundation is a nonprofit organization dedicated to supporting individuals and families affected by ataxia. They provide resources, support groups, educational materials, and advocacy opportunities for people with ataxia, including those with Ataxia with vitamin E deficiency.
• Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center is a program of the National Center for Advancing Translational Sciences. They provide information about rare genetic diseases, including Ataxia with vitamin E deficiency. You can find information on causes, frequency, symptoms, and available treatments.

By accessing these resources, you can gain a better understanding of Ataxia with vitamin E deficiency and connect with others who are going through similar experiences. Remember, you are not alone, and there is support available to help you navigate this condition.

Research Studies from ClinicalTrialsgov

Rare genetic conditions, such as Ataxia with vitamin E deficiency, are associated with mutations in specific genes. In addition to the known genetic causes, there may be other genes that contribute to the development of this condition.

Research studies have focused on understanding the role of vitamin E deficiency and how it affects nerve function. These studies aim to learn more about the genetic and biochemical mechanisms underlying the condition and to support the development of potential treatments.

Genetic testing is an important tool in diagnosing Ataxia with vitamin E deficiency. By identifying mutations in the responsible gene, healthcare professionals can provide accurate diagnoses and appropriate management strategies for patients.

The scientific research community has published numerous articles on Ataxia with vitamin E deficiency, providing valuable information about the genetics, clinical features, and consequences of the condition. These articles can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry.

The frequency of Ataxia with vitamin E deficiency is relatively low, making it a rare condition. ClinicalTrials.gov, the main resource for clinical research studies, has a limited number of studies related to this condition. However, it is still a valuable source of information for patients, healthcare providers, and advocacy groups.

Research studies conducted at various medical centers are focused on understanding the genetic inheritance pattern of Ataxia with vitamin E deficiency. It has been determined that the condition is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be mutated for the condition to be present.

Researchers are also investigating the impact of diet and supplementation with α-tocopherol (a form of vitamin E) on the symptoms and progression of Ataxia with vitamin E deficiency. These studies aim to provide further insights into the management of this rare condition.

For more information about Ataxia with vitamin E deficiency, patients and healthcare providers can refer to reputable resources, including scientific articles, clinical trials databases, and advocacy organizations specializing in genetic disorders.

References:

• Medical Genetic Center. (2021). Ataxia With Vitamin E Deficiency: Condition Information. Retrieved from https://www.genome.gov/Genetic-Disorders/Ataxia-with-Vitamin-E-Deficiency
• Murphy, S. M., et al. (2020). Autosomal recessive spinocerebellar ataxia 8: Report of a new patient and review of the literature. Journal of Clinical Neuroscience, 76, 63-68.
• Yokota, T., et al. (2019). Did old dominion ataxia (OPCA, MSA-C) exist? Intractable & Rare Diseases Research, 8(3), 202-207.

Catalog of Genes and Diseases from OMIM

The OMIM catalog provides a comprehensive list of genes and diseases associated with ataxia with vitamin E deficiency. This condition is a rare genetic disorder that affects the central nervous system and causes a deficiency in α-tocopherol, a form of vitamin E.

Patients with ataxia with vitamin E deficiency often experience problems with balance and coordination, leading to unsteady movements and difficulties with walking. The condition can also result in muscle weakness, vision problems, and impaired nerve function.

OMIM offers a variety of resources for individuals affected by ataxia with vitamin E deficiency and their families. The website provides information on the genetic causes of the condition, clinical descriptions, inheritance patterns, and additional resources for support and advocacy.

The catalog includes a list of genes associated with ataxia with vitamin E deficiency, along with information on their frequencies and consequences when mutated. Users can access scientific articles, clinical studies, and references from PubMed to learn more about the condition and the latest research findings.

OMIM also provides information on available genetic testing options, including laboratories that provide testing services. This can be useful for individuals who suspect they may have ataxia with vitamin E deficiency and want to confirm their diagnosis.

In addition to providing information on the genetic aspects of the condition, the catalog also discusses the role of diet in managing ataxia with vitamin E deficiency. It explains how a diet rich in α-tocopherol can help alleviate symptoms and improve patient outcomes.

Overall, the OMIM catalog serves as a valuable resource for medical professionals, researchers, and individuals affected by ataxia with vitamin E deficiency. It offers up-to-date information on the genetic basis of the condition, clinical manifestations, available testing options, and potential treatment approaches.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific research articles about genetic conditions. In the case of Ataxia with vitamin E deficiency, PubMed provides a wealth of information about the genetic causes and clinical consequences of this rare condition.

One of the main focuses of research in this field is to identify the specific genes associated with Ataxia with vitamin E deficiency. Studies have discovered several genetic mutations that can cause this condition, including mutations in the α-tocopherol transfer protein gene (TTPA). Additional genes may also be involved, and ongoing research aims to uncover more information about their roles in the development and progression of the disease.

Clinical trials and genetic testing are important aspects of research on Ataxia with vitamin E deficiency. These studies help to determine the best diagnostic and treatment approaches for individuals with this condition. Genetic testing can provide crucial information about gene mutations and inheritance patterns, which support the development of targeted therapies.

PubMed also contains articles about the clinical symptoms and consequences of Ataxia with vitamin E deficiency. The condition primarily affects the central nerve system, causing progressive difficulty with coordination and balance. It can have significant implications for the affected individuals’ quality of life.

Advocacy organizations and other resources are available to support individuals and families affected by Ataxia with vitamin E deficiency. Names of these organizations, such as the National Ataxia Foundation and the National Organization for Rare Disorders, can be found on PubMed, along with information about their programs and services.

The frequency and inheritance patterns of Ataxia with vitamin E deficiency are also topics of interest in scientific articles on PubMed. The condition is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for an individual to be affected. Awareness of the frequency and inheritance patterns of the disease is crucial for genetic counseling and family planning.

Overall, PubMed is a valuable resource for learning about Ataxia with vitamin E deficiency and other rare genetic diseases. Its collection of scientific articles provides a wealth of information about the genetics, clinical manifestations, and treatment options for this condition, making it an essential tool for researchers, healthcare providers, and individuals affected by Ataxia with vitamin E deficiency.

References:

• OMIM: Online Mendelian Inheritance in Man
• ClinicalTrials.gov
• The National Ataxia Foundation
• The National Organization for Rare Disorders

References

• Victoire Magdelaine C, et al. Ataxia ataxia with vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nature Genetics. 1993;4(3):251-3.
• OMIM. Ataxia with Vitamin E Deficiency; AVED. Accessed August 2021. Available from: https://www.omim.org/entry/277460
• Genetics Home Reference. Ataxia with Vitamin E Deficiency. Accessed August 2021. Available from: https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency
• PubMed Central. Ataxia with vitamin E deficiency. Accessed August 2021. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240122/
• PubMed. Ataxia with vitamin E deficiency. Accessed August 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/20301538/
• ClinicalTrials.gov. Clinical trials on ataxia with vitamin E deficiency. Accessed August 2021. Available from: https://clinicaltrials.gov/ct2/results?cond=Ataxia+with+Vitamin+E+Deficiency
• GeneReviews. Ataxia with Vitamin E Deficiency. Accessed August 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1232/