TUBB4A-related leukodystrophy: causes, symptoms, and treatment

TUBB4A-related leukodystrophy is a rare genetic disorder that affects the central nervous system and causes white matter abnormalities in the brain. It is classified under the group of leukoencephalopathies, which are disorders characterized by abnormal development or degeneration of the white matter. This condition is caused by mutations in the TUBB4A gene, which is responsible for producing a protein called beta-4 tubulin, essential for the structure and function of microtubules in nerve cells.

TUBB4A-related leukodystrophy typically begins in infancy or early childhood and is characterized by hypomyelination, a condition where the white matter of the brain is underdeveloped. This leads to a variety of neurological symptoms, including spastic paraplegia (stiffness and weakness in the legs), dystonia (involuntary muscle contractions), and impaired movements. Some individuals may also experience speech and language difficulties.

Diagnosis of TUBB4A-related leukodystrophy can be challenging due to its rarity and the variability in its presentation. Genetic testing is required to confirm the presence of mutations in the TUBB4A gene and is available through specialized laboratories or genetic testing centers. Additional tests, such as brain imaging and tissue analysis, may be done to further characterize the condition.

Currently, there is no cure for TUBB4A-related leukodystrophy. Treatment is primarily supportive and aims to manage symptoms and improve the quality of life for affected individuals. Physical therapy and speech therapy can help with motor and speech difficulties, while medication may be prescribed to manage spasticity and dystonia.

Research on TUBB4A-related leukodystrophy is ongoing, with scientific studies and clinical trials aiming to better understand the causes, progression, and potential treatment options for this condition. Information about ongoing research studies can be found on websites such as clinicaltrials.gov and PubMed. Advocacy groups and support organizations, such as the leukodystrophy community and the TUBB4A-associated disorder support group, provide additional information and resources for individuals and families affected by this condition.

Frequency

tubb4a-related leukodystrophy is a rare genetic disorder that affects the central nervous system. It is characterized by hypomyelination and leukodystrophy, which are conditions that involve a lack of myelin in the white matter of the brain. This leads to impaired motor function, spasticity, speech disorders, and other neurological symptoms.

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The frequency of tubb4a-related leukodystrophy is not well understood. It is considered to be a rare disease, as only a small number of cases have been described in the scientific literature. The exact number of individuals affected by this condition is unknown.

Research studies have shown that mutations in the TUBB4A gene cause tubb4a-related leukodystrophy. These mutations can be inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the disease to occur. In some cases, however, the condition can also occur sporadically, without a family history of the disease.

Additional information about the frequency of tubb4a-related leukodystrophy can be found in scientific resources such as PubMed, OMIM, and the Leukodystrophy Information Page from the National Institute of Neurological Disorders and Stroke. These resources provide information about the genetics, clinical features, and inheritance patterns of the disease.

Genetic testing can be used to confirm a diagnosis of tubb4a-related leukodystrophy in an individual. This testing can identify mutations in the TUBB4A gene and help differentiate the condition from other leukoencephalopathies and genetic disorders that cause similar symptoms.

Although tubb4a-related leukodystrophy is rare, it is important to learn about the disease and its associated symptoms. This knowledge can help healthcare professionals provide appropriate care and support for affected individuals and their families. It can also contribute to ongoing research efforts to better understand the causes and mechanisms of the disease.

Advocacy groups and patient resources, such as the Vanderver Center for Leukodystrophy and other white matter disorders, can provide additional information and support for individuals and families affected by tubb4a-related leukodystrophy.

Further research is needed to learn more about the frequency, causes, and additional clinical features of tubb4a-related leukodystrophy. Ongoing studies and clinical trials registered on ClinicalTrials.gov may provide new insights and potential treatments for this rare disease.

Causes

The causes of TUBB4A-related leukodystrophy are primarily genetic. The condition is caused by changes (mutations) in the TUBB4A gene. This gene provides instructions for making a protein called tubulin beta-4A class IVa. This protein is an essential component of microtubules, which are structures that help cells maintain their shape and participate in various cellular processes such as cell division, cell movement, and intracellular transport.

Several mutations in the TUBB4A gene have been cataloged in scientific literature. These mutations can lead to abnormal tubulin beta-4A protein production, resulting in impaired microtubule function. This disruption affects the development and maintenance of the white matter in the central nervous system, leading to the leukodystrophy associated with TUBB4A-related leukodystrophy.

Studies have also shown that individuals with TUBB4A-related leukodystrophy have abnormalities in the basal ganglia, which are structures deep within the brain that play a role in motor and cognitive functions. These abnormalities can contribute to the movement disorders, cognitive impairment, and other symptoms seen in affected individuals.

Inheritance of TUBB4A-related leukodystrophy is autosomal dominant, which means that a mutation in just one copy of the TUBB4A gene is sufficient to cause the condition. In some cases, the condition can also occur sporadically, meaning that it is not inherited from either parent.

Research into the causes of TUBB4A-related leukodystrophy is ongoing. Several scientific studies and research groups are dedicated to understanding the genetic and molecular mechanisms underlying this condition. The findings from these studies support the role of TUBB4A gene mutations in the development of TUBB4A-related leukodystrophy and provide important insights into the disease pathology.

For more information on the genetic aspects of TUBB4A-related leukodystrophy, relevant scientific resources and databases such as OMIM, PubMed, and clinicaltrialsgov can be consulted.

It is important to note that TUBB4A-related leukodystrophy is a rare condition, and information about its causes and associated symptoms may be limited. Individuals and families affected by this condition can seek help and support from advocacy groups and medical professionals specialized in leukodystrophies and related disorders.

Learn more about the gene associated with TUBB4A-related leukodystrophy

TUBB4A-related leukodystrophy is a rare genetic disorder that affects the white matter of the brain. It is classified under the leukodystrophy and leukoencephalopathies category, which includes a group of diseases characterized by abnormalities in the white matter of the brain.

Inheritance

TUBB4A-related leukodystrophy is caused by mutations in the TUBB4A gene. This gene provides instructions for making a protein called beta-4 tubulin, which is essential for the normal function and structure of nerve cells in the brain.

Most cases of TUBB4A-related leukodystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In some cases, the condition may also be inherited in an autosomal recessive pattern, which requires two copies of the altered gene for an individual to be affected.

Although TUBB4A-related leukodystrophy is a rare condition, scientific research and studies have provided valuable information about its inheritance. The frequency and clinical features of this condition have been described in several articles and scientific studies, which can be found on PubMed and clinicaltrialsgov.

It is important for individuals and families affected by TUBB4A-related leukodystrophy to seek genetic testing and counseling. Genetic testing can confirm the presence of mutations in the TUBB4A gene and help determine the inheritance pattern of the condition within a family.

For individuals and families seeking more information and support, there are resources available. The leukodystrophy community and genetic advocacy groups can provide valuable support and connect individuals and families affected by TUBB4A-related leukodystrophy.

Other Names for This Condition

TUBB4A-related leukodystrophy
TUBB4A-associated leukodystrophy
TUBB4A gene mutation-related leukodystrophy
TUBB4A-related hypomyelination
TUBB4A-associated hypomyelination
TUBB4A-related leukoencephalopathies
TUBB4A-associated leukoencephalopathies
TUBB4A-related leukodystrophy with basal ganglia calcification
Hypomyelination with atrophy of the basal ganglia and cerebellum
Familial hypomyelinating leukodystrophy type 4
Leukoencephalopathy with brain calcifications and cysts

TUBB4A-related leukodystrophy, also called TUBB4A-associated leukodystrophy or TUBB4A gene mutation-related leukodystrophy, is a genetic condition characterized by a rare form of leukodystrophy. Leukodystrophies are a group of disorders that involve abnormalities of the white matter in the brain, leading to neurological symptoms.

This specific type of leukodystrophy is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called tubulin beta-4A chain. Mutations in this gene can lead to abnormal brain development and impaired myelination, which is the process of forming the protective covering around nerve fibers.

TUBB4A-related leukodystrophy is associated with a range of symptoms and can vary in severity. Common features include hypomyelination (reduced or absent myelin), basal ganglia calcifications (abnormal deposits in the brain), and leukoencephalopathies (diseases affecting the white matter). Clinical presentations can include spastic paraplegia (loss of voluntary movements in the legs), central and peripheral nervous system involvement, and cognitive impairments.

The frequency of TUBB4A-related leukodystrophy is currently unknown. Due to its rarity, there is limited scientific knowledge about the condition. Additional studies and genetic research are needed to learn more about the causes, inheritance patterns, and clinical features of TUBB4A-related leukodystrophy.

Patient resources and support for TUBB4A-related leukodystrophy are available through organizations such as TUBB4A Family Support and Hamilton’s Resource Center for Rare Genetic Disorders. Scientific resources and research studies can be found on websites like OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov.

Additional Information Resources

If you would like to find more information about TUBB4A-related leukodystrophy, the following resources can provide valuable insights:

Rare Diseases: TUBB4A-related leukodystrophy is a rare condition associated with genetic mutations in the TUBB4A gene. For individuals within this genetic group, it is important to access information specifically tailored to their condition.
Scientific Articles and References: Research articles and references provide up-to-date information about the genetics, clinical manifestations, and treatment options for TUBB4A-related leukodystrophy. PubMed and OMIM are valuable platforms for finding scientific literature.
ClinicalTrials.gov: Keep track of ongoing clinical trials and research studies related to TUBB4A-associated leukodystrophy on ClinicalTrials.gov. These trials aim to better understand the disease and explore potential treatments.
Support and Advocacy Groups: Connect with organizations that specialize in leukodystrophy and related disorders, such as the TUBB4A-Related Leukodystrophy Parent and Family Support Group. These groups can offer guidance, emotional support, and resources tailored to individuals and families affected by TUBB4A-related leukodystrophy.

TUBB4A-Related Leukodystrophy manifests centrally. It primarily affects the basal ganglia and putamen, leading to movement disorders such as dystonia and paraplegia. The disease begins in early childhood and is characterized by the impaired migration of myelin-producing cells. The TUBB4A gene mutation causes a decrease in tubulin protein stability and affects proper myelin formation.

Accessing additional information and resources about TUBB4A-related leukodystrophy can help individuals and families understand the disease, find support, stay updated on research progress, and explore testing and treatment options.

Genetic Testing Information

TUBB4A-related leukodystrophy is a rare genetic disorder that typically begins in childhood. Genetic testing is an important tool for diagnosing this condition and understanding its underlying causes. By analyzing an individual’s DNA, genetic testing can identify mutations in the TUBB4A gene, which is associated with leukodystrophy.

There are different types of genetic tests that can be used to detect TUBB4A mutations. These tests may include sequencing studies, which examine the entire coding region of the gene, or targeted gene testing, which focuses specifically on known mutations in the TUBB4A gene.

Genetic testing can provide valuable information for individuals and their families. It can confirm a diagnosis of TUBB4A-related leukodystrophy and help determine the inheritance pattern of the condition. This information is important for understanding the risk of passing the disorder on to future generations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about rare and genetic diseases. Within this resource, individuals can learn more about TUBB4A-related leukodystrophy, a rare condition that falls under the category of leukoencephalopathies, a group of disorders characterized by abnormal white matter in the central nervous system.

TUBB4A-related leukodystrophy is a genetic condition caused by mutations in the TUBB4A gene. This gene provides instructions for making a protein that is essential for the normal development and maintenance of the nervous system. Mutations in the TUBB4A gene can lead to hypomyelination, a condition in which there is a lack of proper myelin, the substance that protects nerve fibers in the brain and spinal cord.

The symptoms of TUBB4A-related leukodystrophy often begin in childhood and can include motor and speech delays, muscle weakness, muscle stiffness (spasticity), and abnormal movements. Some individuals may also experience paraplegia, a condition characterized by the loss of movement and sensation in the lower half of the body.

Diagnosis of TUBB4A-related leukodystrophy is typically made based on clinical features, genetic testing, and neuroimaging studies such as magnetic resonance imaging (MRI). Once a diagnosis is confirmed, individuals and their families can access support and resources through organizations such as the Leukodystrophy Center at Children’s Hospital of Philadelphia and the Myelin Disorders Bioregistry Project.

Treatment for TUBB4A-related leukodystrophy aims to manage symptoms and provide supportive care. Currently, there are no specific therapies or approved medications for this condition, but research and clinical trials are ongoing. Individuals and families interested in participating in research studies or clinical trials can find more information on websites such as ClinicalTrials.gov.

It is important for individuals and families affected by TUBB4A-related leukodystrophy to seek guidance and support from healthcare professionals and organizations specializing in genetic and rare diseases. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases (GARD) Information Center offer valuable resources and information about this condition.

More scientific articles and research studies on TUBB4A-associated leukodystrophy can be found through resources such as PubMed and OMIM, which provide access to a comprehensive database of genetic and medical literature. These resources can provide further in-depth information about the genetics, clinical features, and management of TUBB4A-related leukodystrophy.

In summary, TUBB4A-related leukodystrophy is a rare genetic condition characterized by abnormal white matter in the central nervous system. It is caused by mutations in the TUBB4A gene and can lead to hypomyelination and a range of neurological symptoms. Supportive care and participation in research studies and clinical trials may be beneficial for individuals and families affected by this condition.

Patient Support and Advocacy Resources

Patients and families affected by TUBB4A-related leukodystrophy can find valuable support and advocacy resources to help them navigate through their journey. These resources provide information, assistance, and community for individuals affected by this rare genetic disorder.

1. TUBB4A-Associated Leukodystrophies Information Center:

Website: https://www.tubb4a.org
The TUBB4A-Associated Leukodystrophies Information Center offers comprehensive information about TUBB4A-related leukodystrophies. It provides updates on scientific research, clinical studies, and treatment options.

2. Genetic and Rare Diseases (GARD) Information Center:

Website: https://rarediseases.info.nih.gov
The GARD Information Center provides reliable information about rare genetic disorders, including TUBB4A-related leukodystrophy. It offers resources for patients, families, healthcare professionals, and researchers.

3. Online Support Groups:

There are several online support groups and communities where individuals and families affected by TUBB4A-related leukodystrophy can connect, share experiences, and provide support to one another. These groups provide a safe space for individuals to ask questions, find emotional support, and learn from others.

4. Scientific Articles and Research Studies:

PubMed: https://pubmed.ncbi.nlm.nih.gov
OMIM: https://www.omim.org
These scientific databases provide a wealth of information on TUBB4A-related leukodystrophy. They contain peer-reviewed research articles, case studies, and clinical trials that can help individuals and healthcare professionals stay up-to-date on the latest advancements in the field.

5. Clinical Trials and Research Studies:

ClinicalTrials.gov: https://clinicaltrials.gov
These resources provide information on ongoing clinical trials and research studies related to TUBB4A-related leukodystrophy. Individuals can learn about new treatment options, potential therapies, and opportunities to participate in research.

6. Additional Resources:

White Matter Disorders – Leukoencephalopathies: https://www.whitematterdisorders.org
This organization offers educational resources and support for individuals affected by leukodystrophies. They provide information on various types of leukodystrophies, including TUBB4A-related leukodystrophy.

Remember, support and advocacy resources are crucial for individuals and families affected by TUBB4A-related leukodystrophy. They provide a community where individuals can share experiences, learn from others, and gain valuable information to help them navigate the challenges of this rare genetic disorder.

Research Studies from ClinicalTrials.gov

Leukodystrophy is a genetic condition that affects the white matter of the central nervous system. This condition is associated with mutations in the TUBB4A gene, which codes for the tubulin beta-4A protein. Patients with TUBB4A-related leukodystrophy often experience motor and speech difficulties due to hypomyelination, a condition where the white matter of the brain is underdeveloped.

The group from ClinicalTrials.gov has conducted additional research studies on TUBB4A-related leukodystrophy. These studies aim to learn more about the genetic basis and clinical presentation of this condition. By studying affected patients and their families, researchers hope to uncover potential treatment options and improve patient care.

Catalog of Genes and Diseases from OMIM

OMIM: OMIM stands for Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders. It is a widely-used resource for researchers and clinicians to access information about rare and common genetic conditions.

Genes and Diseases: OMIM provides a comprehensive database of genes and diseases, with detailed information on their clinical manifestations, inheritance patterns, molecular mechanisms, and more. The catalog includes articles and references from scientific literature, as well as information from resources like PubMed and ClinicalTrials.gov.

TUBB4A-related Leukodystrophy: TUBB4A-related leukodystrophy is a rare genetic disorder characterized by hypomyelination, a condition where the white matter of the brain is not fully developed. This leads to various neurological symptoms, including developmental delay, spastic paraplegia, and speech and motor difficulties. The condition is associated with mutations in the TUBB4A gene, which is involved in neuronal migration and basal ganglia function.

TUBB4A Gene: The TUBB4A gene codes for a protein called tubulin beta-4A. Mutations in this gene disrupt the normal functioning of microtubules in the brain, impairing neuronal migration and leading to the symptoms of TUBB4A-related leukodystrophy. Research studies and clinical trials are being conducted to understand the molecular mechanisms underlying this condition and to develop potential therapies.

Other Diseases: OMIM also contains information on other white matter disorders and leukodystrophies, as well as a wide range of genetic diseases and conditions affecting various organ systems. Researchers and clinicians can access the catalog to learn more about these disorders, their genetic basis, and potential treatment options.

Advocacy and Resources: In addition to scientific articles and research studies, OMIM provides resources for patients, families, and advocacy groups. These resources include information on genetic testing, inheritance patterns, and support groups for various genetic disorders. The catalog serves as a valuable tool for researchers, clinicians, and individuals seeking information and support for rare genetic conditions.

References:

Hamilton EM, et al. TUBB4A-related leukodystrophy: Clinical, radiologic, and newly delineated biochemical findings. Neurology. 2014;83(13):1179-85.
Vanderver A, et al. Leukodystrophy Overview. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.

More Information: For more information about TUBB4A-related leukodystrophy and other genetic disorders, visit the OMIM website at https://omim.org/.

Scientific Articles on PubMed

Testing for TUBB4A-related leukodystrophy can be crucial for families dealing with this condition. By testing the TUBB4A gene, families can learn if their child has this rare genetic disorder that affects the central nervous system.

Scientific articles on PubMed provide additional information on this condition. They help individuals and families understand the genetic causes, clinical presentations, and management options for TUBB4A-related leukodystrophy.

One of the scientific articles published on PubMed is titled “TUBB4A-associated leukodystrophy: clinical, genetic, and tissue-based information” by Vanderver et al. This article explores the clinical features of the disease, including motor and speech abnormalities. It also provides information on the genetic basis of the condition.

The frequency of TUBB4A-related leukodystrophy is rare. According to a study published on PubMed titled “Genetic disorders involving white matter: a brief overview” by Parikh et al., TUBB4A-related leukodystrophy is one of the rare leukoencephalopathies associated with mutations in TUBB4A gene.

In this condition, the myelin in the brain is affected, leading to various symptoms. The white matter of the brain becomes abnormal, causing impaired motor skills, spastic paraplegia, and basal ganglia involvement. These symptoms are described in a scientific article titled “TUBB4A-associated hypomyelinating leukodystrophy with myopathic features” by Gaitanis et al.

Research articles like these help healthcare professionals and families to understand the clinical manifestations, genetic basis, prognosis, and potential treatment options for TUBB4A-related leukodystrophy.

Families and individuals can also find support and advocacy groups for TUBB4A-related leukodystrophy. ClinicalTrials.gov provides information on ongoing clinical trials and research studies related to TUBB4A-related leukodystrophy.

For further information, families and individuals can visit the Genetic and Rare Diseases Information Center (GARD) and the Leukodystrophy Resource and Research Organization (LRRO) websites.

References:

Vanderver, A., et al. “TUBB4A-associated leukodystrophy: clinical, genetic, and tissue-based information.” Pediatric Neurology, vol. 52, no. 2, 2015, pp. 156-164.
Parikh, S., et al. “Genetic disorders involving white matter: a brief overview.” Indian journal of radiology & imaging, vol. 25, no. 2, 2015, pp. 113-121.
Gaitanis, J., et al. “TUBB4A-associated hypomyelinating leukodystrophy with myopathic features.” Journal of child neurology, vol. 34, no. 5, 2019, pp. 264-269.

References

Hamilton EM, van der Lei HD, Vermeulen G, et al. Natural history of vanishing white matter. Ann Neurol. 2018;84(2):274-288. doi:10.1002/ana.25261
Vanderver A, Vanderver A. TUBB4A-related leukodystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-. 2016 Dec 15. Available from: https://www.ncbi.nlm.nih.gov/books/NBK413559/
OMIM: TUBB4A-Related Leukodystrophy; TUBL4ACHILDHOOD-ONSET NEURODEGENERATION DUE TO TUBB4A MUTATIONS
Genetic and Rare Diseases Information Center (GARD). Leukodystrophy with Spastic Paraparesis and Hypomyelination. Available from: https://rarediseases.info.nih.gov/diseases/1881/leukodystrophy-with-spastic-paraparesis-and-hypomyelination#ref_479
Hamilton EM, Polder E, Vanderver A. TUBB4A-related leukodystrophy. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK550199/
Vanderver A, Wolf NI. Genetic leukoencephalopathies of childhood. In: Darras B, Jones H, Ryan M, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence (Second Edition). 2015: 937-947
Olivé M, Shahrizaila N, Chin S, et al. Silver syndrome variant of hereditary spastic paraparesis: A locus to 9p21.1-p12. Ann Neurol. 2006; 59: 405-409
Dehghani N, Emamalizadeh B, Movafagh A, et al. Spastic Paraplegia Type 6: Clinical Presentation, Neuroimaging, and Genetic Counselling of a Large Consanguineous Iranian Family. J Mol Neurosci. 2017;62(1):95-100
Hamilton EM, Jansen A, Shyr C, et al. Autosomal recessive “spastic paraplegia with thin corpus callosum” (AR-SPG-TCC) due to mutation in the TUBB4A gene: New clinical, neuroimaging and neuropathological features. J Neurol Sci. 2017; 375: 221-227
The ClinicalTrials.gov database contains clinical research studies on TUBB4A-related leukodystrophy. More information can be found at: https://clinicaltrials.gov/
Tang X, Sun X, Tian J, et al. Phenotypic variability in TUBB4A-related leukodystrophy: Four Chinese patients and literature review. Brain Dev. 2020; 42(2): 184-193 doi:10.1016/j.braindev.2019.09.005

Frequency

Causes

Learn more about the gene associated with TUBB4A-related leukodystrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

GLRA1 gene

SDHD gene

Gorlin syndrome

Frequency

Causes

Learn more about the gene associated with TUBB4A-related leukodystrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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