The ATL1 gene, particularly the 3A variant, is a genetic condition associated with several nerve-related disorders, including spastic paraplegia. It plays a crucial role in the formation and regulation of cell tracts in the spinal cord and other parts of the nervous system.
Scientific databases, such as PubMed and OMIM, have listed numerous articles and resources on this gene and its related conditions. The Auer-Grumbach Syndrome and Hereditary Sensory Neuropathy Type 2F are some of the conditions associated with mutations in the ATL1 gene.
Testing for changes in the ATL1 gene is done through genetic tests and is often recommended when there are symptoms or a family history of related diseases. These tests can provide essential information for diagnosis, treatment, and management of the condition.
Furthermore, the Neurol Genet catalog, along with other health resources, provides additional information on the ATL1 gene, its variants, and related disorders. This comprehensive collection of articles and references can help researchers, medical professionals, and individuals seeking information on this gene and its implications in various diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the ATL1 gene can lead to various health conditions.
One of the conditions associated with these genetic changes is the hereditary sensory and autonomic neuropathy type III, also known as the Riley-Day syndrome. This condition is characterized by the inability to feel pain, temperature, and other sensations.
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Another condition related to genetic changes in the ATL1 gene is hereditary spastic paraplegia type 3A. This condition affects the nerve tracts in the spinal cord, leading to spastic paraplegia, which is characterized by stiffness and weakness in the legs.
These health conditions are listed in various scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
Scientific articles on these conditions and the genetic changes associated with them can be found on PubMed, as well as other resources for additional information.
Tests can be conducted to detect genetic changes in the ATL1 gene and diagnose these conditions.
Spastic paraplegia type 3A
Spastic paraplegia type 3A (SPG3A) is a genetic condition characterized by progressive weakness and stiffness (spasticity) in the legs. It is classified as a subtype of hereditary spastic paraplegia (HSP), a group of disorders that primarily affect the pathways that allow nerve impulses to travel from the brain to the spinal cord.
SPG3A is caused by mutations in the ATL1 gene, which provides instructions for making a protein called atlastin. This protein is involved in maintaining the structure and function of a cell’s endoplasmic reticulum, which is responsible for protein synthesis and lipid metabolism.
Individuals with SPG3A typically develop symptoms in adolescence or early adulthood. The most common feature is difficulty with walking, caused by spasticity and muscle weakness in the legs. Other symptoms may include foot abnormalities, such as high arches or hammertoes, and urinary problems.
Diagnosis of SPG3A is based on clinical evaluation, family history, and genetic testing. Genetic testing can identify mutations in the ATL1 gene and confirm the diagnosis.
There is currently no cure for SPG3A, so treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, assistive devices such as braces or walkers, and medications to alleviate spasticity.
For additional information and resources on SPG3A, related conditions, and genetic testing, the following databases and articles can be consulted:
- Online Mendelian Inheritance in Man (OMIM) – This database provides comprehensive information on genetic disorders and associated genes.
- PubMed – This online database includes scientific articles and studies on various diseases and genes, including SPG3A.
- Hereditary Spastic Paraplegia Mutation Database – This database catalogs mutations in genes associated with hereditary spastic paraplegia and provides information on related articles and resources.
- Heredity (Edinb). 2007 Jan;98(1):52-6. PMID: 17167499
- Neurol Genet. 2015 May; 1(1): e3. PMID: 27066542
- Neurol Genet. 2015 Jun; 1(2): e33. PMID: 27066554
ATL1 gene mutations have been associated with a range of other disorders, including:
- Spinal muscular atrophy, Charcot-Marie-Tooth disease type 2
- Hereditary motor neuropathy (OMIM 601152)
- Spastic paraplegia-3A (OMIM 182600)
These conditions are characterized by changes in the nerve cells, particularly in the spinal cord and nerve tracts, leading to impaired impulse transmission. Additional conditions listed in the ATL1 gene-related disorders catalog include ulcers, sores, and changes in the reticulum.
Testing for gene variants related to the ATL1 gene mutations can be performed through genetic testing. Resources such as the ATL1 Gene Registry and databases like OMIM and PubMed provide information on these disorders, including articles and references.
Other Names for This Gene
The ATL1 gene is also known by other names, including:
- Atlastin-1: This is the protein product of the gene, which plays a role in nerve cell impulses.
- SPG3A: This is the gene’s official symbol, representing “spastic paraplegia 3A.”
- Auer-Grumbach disease, autosomal dominant, type 2: This is a specific condition associated with mutations in the ATL1 gene, characterized by muscle weakness and stiffness in the legs.
- HKRP: This stands for “Hereditary neuropathy with liability to pressure palsies,” another condition that can result from changes in the ATL1 gene.
These names may be used in scientific articles, databases, and genetic testing resources. They are particularly useful when researching related conditions, as many genes and disorders are listed under different names in various resources. For additional information on the ATL1 gene and associated conditions, it is recommended to consult reputable sources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide valuable references and information on changes in the gene, associated diseases, and health registries.
In summary, the ATL1 gene, also known as Atlastin-1 or SPG3A, is implicated in certain genetic disorders affecting the nerves and spinal tracts. It may cause conditions such as Auer-Grumbach disease, autosomal dominant, type 2, and hereditary neuropathy with liability to pressure palsies. Patients and healthcare professionals interested in learning more about these conditions and the ATL1 gene can find additional information in scientific articles, databases, and health registries.
Additional Information Resources
Here is a list of additional resources related to the ATL1 gene and its associated conditions:
- Nerve Conditions: The ATL1 gene is associated with spinal neuropathy with congenital anomalies of the spinal cord. To learn more about this condition and other nerve-related disorders, you can visit the OMIM catalog or check the PubMed database for scientific articles related to the ATL1 gene.
- Genetic Testing: If you suspect you or someone you know might have a variant in the ATL1 gene, genetic testing can provide more information. You can consult a genetic counselor or visit a genetics laboratory to discuss the available tests.
- Related Genes: There are other genes, such as Auer-Grumbach disease, that are related to the ATL1 gene. To explore these genes and their associated conditions, you can search the OMIM catalog or the PubMed database.
- Registry and Support: There may be registries or support organizations available specifically for individuals with conditions related to the ATL1 gene. These resources can provide additional information, support, and connect you with others who have similar experiences.
These resources can provide valuable information on the ATL1 gene and associated conditions. It is important to stay informed and consult healthcare professionals for personalized advice and guidance.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a valuable resource for information on genetic tests related to the ATL1 gene and its associated diseases, particularly hereditary spastic paraplegia (HSP) and sensory neuropathy.
The GTR catalog includes information on the availability, clinical validity, and utility of genetic tests for various diseases. The registry also provides links to additional resources, such as scientific articles, PubMed references, and other databases.
Tests listed in the GTR for the ATL1 gene and related disorders include:
- ATL1 gene variant testing: This test identifies changes in the ATL1 gene, which is associated with hereditary spastic paraplegia and sensory neuropathy.
- Hereditary spastic paraplegia testing: This test examines genes associated with hereditary spastic paraplegia, including ATL1. It helps identify the specific gene variant causing the condition.
- Sensory neuropathy testing: This test analyzes genes involved in sensory neuropathy and related disorders, such as ATL1 and others. It helps detect gene variants that may contribute to the condition.
By testing these genes, healthcare professionals can gather important information about the individual’s risk of developing these conditions, as well as provide appropriate treatment and management options.
For additional information on specific tests and the related diseases, healthcare professionals and individuals can refer to the GTR database. The database provides detailed information on each test, including test type, scientific names, OMIM catalog numbers, and references to PubMed articles.
Through the GTR, healthcare professionals can access resources to stay updated on the latest research and advancements in the field. This information is essential for making evidence-based decisions in patient care and genetic testing.
In summary, the Genetic Testing Registry offers a comprehensive catalog of tests and resources for the ATL1 gene, hereditary spastic paraplegia, sensory neuropathy, and related disorders. These tests enable healthcare professionals to diagnose and manage these conditions effectively.
Scientific Articles on PubMed
ATL1 gene, also known as Auer-Grumbach type, is listed in various scientific articles. This gene is associated with several neurologic disorders, including hereditary spastic paraplegia and sensory neuropathy. Researchers have conducted tests and studies on this gene to better understand its role in these conditions.
Additional names for ATL1 gene include Atlastin, Spastic Paraplegia 3A, SPG3A, and Autosomal Dominant Hereditary Spastic Paraplegia Type 3A. The gene is cataloged in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
Scientific articles related to the ATL1 gene cover a wide range of topics, including genetic changes associated with the condition, diagnostic testing, and treatment options. These articles provide valuable information for researchers, scientists, and healthcare professionals.
PubMed, a widely-used database, hosts a collection of articles on the ATL1 gene. Researchers can find relevant articles by searching for keywords such as “ATL1 gene,” “spastic paraplegia,” “neuropathy,” or “ATL1 gene testing.”
Some of the articles available on PubMed discuss the relationship between ATL1 gene and other genes involved in the transmission of nerve impulses. They explore the role of ATL1 gene in maintaining the health of nerve tracts and the endoplasmic reticulum within cells.
Articles on PubMed also provide references to other scientific resources and studies that have contributed to the understanding of the ATL1 gene and its associated conditions. These articles serve as a valuable source of information for further research and exploration.
Overall, scientific articles on PubMed offer a comprehensive collection of research on the ATL1 gene and its implications for various neurologic conditions. They provide insights into the genetic basis of these diseases and offer potential avenues for further investigation and treatment options.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic disorders and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on various genetic conditions.
OMIM stands for Online Mendelian Inheritance in Man, which is a collection of genes and genetic disorders. It contains a wealth of information on different genetic conditions, particularly those related to the nervous system, such as spinal cord disorders and neuropathy.
The catalog includes information on a wide range of genes associated with various diseases. One such gene is ATL1, which is associated with a type of hereditary spastic paraplegia. Changes in this gene can lead to impairments in the function of nerve tracts, particularly the 3a tracts.
For additional resources, the catalog provides links to other scientific databases such as PubMed, where related articles and references can be found. These resources can help researchers and healthcare professionals stay updated on the latest research and developments in the field of genetics.
The catalog also serves as a registry for genetic testing laboratories, listing the names and contact information of facilities that offer genetic testing for various conditions. This information can be useful for individuals who want to undergo testing to determine their risk of developing a specific genetic disorder.
OMIM catalog provides a comprehensive list of genetic conditions and diseases, including but not limited to spastic paraplegia. It covers a wide range of disorders, such as ulcers, nerve cell disorders, and other neurological conditions. Each entry in the catalog includes detailed information about the condition, its symptoms, genetic variants implicated, and available testing options.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic disorders and diseases. It provides a wealth of information on genes associated with various conditions, as well as additional resources for further research and testing.
Gene and Variant Databases
In the field of genetic research and testing, gene and variant databases play a crucial role in providing valuable information on various genetic conditions and diseases. These databases serve as a comprehensive registry of genes and their associated variants, enabling researchers and healthcare professionals to access and analyze the latest scientific resources related to specific genes and their effects on human health.
One such database is the ATL1 gene database, which focuses on the study of the ATL1 gene and its variants. This gene is associated with a condition known as hereditary spastic paraplegia, which affects the nerve tracts responsible for the movement of the lower limbs. The ATL1 gene database contains detailed information on the different variants of this gene and their implications for the development of this condition.
In addition to the ATL1 gene database, there are several other databases that catalog gene and variant information for various genetic disorders and diseases. These databases include OMIM (Online Mendelian Inheritance in Man), PubMed, and Genetests, among others. They provide a wealth of information on different genes and their associated variants, along with references to scientific articles and other relevant resources.
These databases are particularly useful for researchers and healthcare professionals who specialize in the study and diagnosis of genetic conditions. By accessing these resources, they can gain a better understanding of the genetic changes underlying certain diseases and identify potential targets for further investigation and treatment.
Furthermore, gene and variant databases serve as essential tools for genetic testing laboratories. When conducting genetic tests, laboratories often consult these databases to compare the genetic variants identified in their patients with known disease-causing variants. This helps in determining the significance and clinical relevance of the identified variants, aiding in accurate diagnosis and appropriate patient management.
In summary, gene and variant databases provide a wealth of information on genes and their associated variants, making them invaluable resources in the field of genetics. These databases enable researchers, healthcare professionals, and genetic testing laboratories to access up-to-date information on genes related to specific conditions and contribute to advancing our understanding of genetic diseases.
- Auer-Grumbach M. (2011). Hereditary sensory neuropathy type I. In: GeneReviews. Adam MP, Ardinger HH, Pagon RA, et al., eds. Seattle (WA): University of Washington, Seattle; 1993-2019. PMID: 20301339
- Delettre C, Lenaers G, et al. (2008). Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000 Sep;26(2):207-10. PMID: 11017080
- Engelhard C, Lacomblez L, et al. (2014). Late onset hereditary spastic paraplegia is associated with mutations in ATL1: a French study. J Neurol Neurosurg Psychiatry. 2014 May;85(5):602-8. PMID: 24282040
- Müller E, Palos F, et al. (2017). Severe sensory-predominant neuropathy related to a new atlastin mutation. Neurogenetics. 2017 Oct;18(4):237-247. PMID: 28770432
- Reid E. (2003). Pure Hereditary Spastic Paraplegia. In: GeneReviews. Adam MP, Ardinger HH, Pagon RA, et al., eds. Seattle (WA): University of Washington, Seattle; 1993-2019. PMID: 20301343
- Tesson C, et al. (2012). Alteration of fatty-acid-oxidation-related gene expression and mitochondrial respiration in atlastin-1-deficient mouse mutant. J Cell Sci. 2012 Oct 15;125(Pt 20): 4949–4959. PMID: 22899705
For additional information, you can refer to the following databases: