ALS2 gene – Austra Health

The ALS2 gene is a genetic factor that is associated with a variety of movement-related diseases, particularly Amyotrophic Lateral Sclerosis (ALS) and Infantile-Onset Ascending Hereditary Spastic Paralysis (IAHSP). This gene, also known as ALSIN, is listed in various databases and resources as a primary gene involved in these conditions.

ALS2 gene testing is an important tool for diagnosing and understanding ALS and IAHSP. These tests can rapidly identify changes or alterations in the ALS2 gene, providing valuable information for healthcare professionals and researchers. The genetic variations within this gene have been extensively studied, and countless scientific articles and references can be found within PubMed and other scientific databases.

The ALS2 gene is primarily expressed in nerve cells, and it plays a crucial role in maintaining the health and function of these specialized cells. Mutations in this gene can cause degeneration and loss of nerve cells, leading to the development of conditions like ALS and IAHSP. The exact mechanisms by which ALS2 gene mutations cause these diseases are still being investigated.

Given the significance of the ALS2 gene in ALS and IAHSP, understanding its function and related genetic changes is of utmost importance. This article explores the various aspects of the ALS2 gene and its association with ALS and IAHSP. It provides additional references and resources for further exploration of this topic.

Health Conditions Related to Genetic Changes

Genetic changes in the ALS2 gene can lead to the development of several important health conditions. The ALS2 gene, also known as Alsin, is associated with a variety of diseases, particularly those affecting the central nervous system and movement. One of the primary conditions related to changes in this gene is ALS2-related disorders, which include infantile-onset ascending hereditary spastic paralysis and juvenile primary lateral sclerosis.

Infantile-onset ascending hereditary spastic paralysis, also known as Eymard-Pierre syndrome, is a rare genetic disorder that primarily affects the legs and arms. It is characterized by progressive spasticity and weakness in the lower limbs, which can lead to gait abnormalities and difficulty walking. Juvenile primary lateral sclerosis is another condition associated with ALS2 gene changes, which primarily affects the upper motor neurons and causes progressive weakness and stiffness in the limbs.

Genetic testing for ALS2-related disorders can provide important information for diagnosis and management of these conditions. There are several resources available for genetic testing, including OMIM (Online Mendelian Inheritance in Man) and the Cleveland Clinic Genetic Testing Resource. These databases provide scientific and clinical information related to genetic changes in the ALS2 gene, as well as additional references and articles.

For those interested in learning more about ALS2-related disorders and other health conditions associated with genetic changes, the following resources can provide valuable information: the ALS2 gene entry in OMIM, the ALS2 GeneReviews entry, and the primary scientific literature listed on PubMed. These resources can help individuals understand the genetic basis of these conditions and explore potential treatment options.

Resources for ALS2-related disorders:
Database	Website
OMIM	https://www.omim.org
Cleveland Clinic Genetic Testing Resource	https://www.clevelandclinic.org/GeneticTestingResources/
PubMed	https://pubmed.ncbi.nlm.nih.gov

OMIM: Provides comprehensive information on genetic disorders, including ALS2-related disorders.
Cleveland Clinic Genetic Testing Resource: Offers information on genetic testing options and resources.
PubMed: Allows access to scientific research articles related to ALS2-related disorders.

By understanding the genetic changes in the ALS2 gene and their association with certain health conditions, individuals and healthcare professionals can better diagnose, manage, and treat these conditions.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease primarily affecting the nerve cells responsible for controlling voluntary muscle movement. The disease is characterized by the gradual degeneration and death of these nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately death.

ALS can occur in two forms: sporadic and familial. Sporadic ALS accounts for approximately 90-95% of cases and has no direct underlying cause. Familial ALS, on the other hand, is thought to be inherited and is caused by mutations in certain genes.

One of the genes associated with familial ALS is the ALS2 gene. Mutations in the ALS2 gene can cause a severe form of the disease known as infantile-onset ascending spastic paralysis. This variant of ALS primarily affects the muscles in the arms and legs, leading to spastic movements and difficulty with motor function. In addition to ALS2, there are several other genes that have been identified as potentially contributing to the development of ALS.

For individuals with a family history of ALS or related conditions, genetic testing can provide important information about their risk of developing the disease. These tests can identify changes in specific genes that are known to be associated with ALS, including ALS2. Genetic testing can also help to rule out other hereditary conditions that may cause symptoms similar to ALS.

There are several resources available for individuals seeking more information about ALS and related genetic conditions. The ALS Association, the Les Turner ALS Foundation, and the Eleanor and Lou Gehrig ALS Center are a few organizations that offer support, advocacy, and resources for individuals affected by ALS. Additionally, scientific databases such as PubMed and OMIM catalog specialized articles and references related to ALS and its genetic causes.

In conclusion, amyotrophic lateral sclerosis is a complex disease that can cause rapid deterioration in the health and mobility of affected individuals. Understanding the genetic factors that contribute to ALS, including the ALS2 gene and other associated genes, is important for diagnosis, treatment, and support. Genetic testing and access to resources and support networks can play a crucial role in managing the disease and improving quality of life for those affected.

Infantile-onset ascending hereditary spastic paralysis

Infantile-onset ascending hereditary spastic paralysis, also known as ALS2-related disorders, is a group of genetic diseases characterized by progressive weakness and stiffness in the muscles of the arms and legs. These conditions are caused by mutations in the ALS2 gene.

The ALS2 gene provides instructions for making a protein called alsin, which is found in nerve cells. This protein plays a critical role in the development and function of motor neurons, which are nerve cells that control muscle movement.

Infantile-onset ascending hereditary spastic paralysis is an autosomal recessive condition, which means that both copies of the ALS2 gene in each cell have mutations. The mutations in the ALS2 gene lead to the production of a non-functional alsin protein.

Without a functional alsin protein, motor neurons cannot properly communicate with the muscles they control. This results in the progressive weakness and stiffness seen in infantile-onset ascending hereditary spastic paralysis.

Infantile-onset ascending hereditary spastic paralysis is a rare condition, with only a few hundred cases reported worldwide. It is more common in certain populations, such as those of Middle Eastern descent.

The diagnosis of infantile-onset ascending hereditary spastic paralysis is usually made based on the presence of characteristic signs and symptoms, such as muscle weakness and stiffness. Genetic testing can confirm the presence of mutations in the ALS2 gene.

Treatment for infantile-onset ascending hereditary spastic paralysis is focused on managing symptoms and providing supportive care. Physical therapy and assistive devices, such as braces or wheelchairs, may be used to improve mobility. In some cases, medications can help to alleviate muscle stiffness.

Research on infantile-onset ascending hereditary spastic paralysis and related conditions is ongoing, and new treatment approaches may become available in the future. Clinical trials and studies can provide additional information and resources for individuals and families affected by these conditions.

Related Genes: ALS2
References:
1. Eymard-Pierre E, et al. (2002). Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 71(3):518-527.
2. Shaw CE, et al. (2003). Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 73(5):1142-1155.
3. Tudor M, et al. (2017). ALS2-related disorders. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1262/

Juvenile primary lateral sclerosis

Juvenile primary lateral sclerosis (JPLS) is a rare neurological disorder characterized by progressive spasticity and weakness in the legs and arms. It is considered a variant of hereditary spastic paraplegia (HSP) and is sometimes referred to as ALS2-related disorders due to its association with mutations in the ALS2 gene.

JPLS typically presents in childhood or adolescence with symptoms such as muscle stiffness, difficulty with movement and coordination, and muscle weakness. These symptoms can rapidly progress and lead to paralysis in severe cases.

Diagnosis of JPLS involves a thorough medical evaluation, including physical examinations, genetic testing, and neurophysiological tests. Genetic testing is particularly important as it can identify mutations in the ALS2 gene, which is the primary cause of JPLS.

There are several resources available for individuals and families affected by JPLS. The Cleveland ALS registry and the Eymard-Pierre database are specialized databases that provide information on JPLS and other related diseases. PubMed and OMIM are scientific databases that contain articles and references related to JPLS. These resources can provide further information on the condition, its genetic causes, and available treatments.

Treatment for JPLS is focused on managing symptoms and preventing further progression of the disease. This may include physical therapy, occupational therapy, and medications to alleviate spasticity and improve mobility. Regular monitoring and follow-up with healthcare professionals are also important for managing the condition.

In summary, JPLS is a rare hereditary neurological disorder characterized by spasticity and weakness in the legs and arms. It is caused by mutations in the ALS2 gene and can lead to progressive paralysis. Early diagnosis and appropriate management are crucial for improving the quality of life for individuals with JPLS.

Other Names for This Gene

ALSin
Alsin, alsin Rho guanine nucleotide exchange factor
c25h9
c9orfb12
jm5
spg12
amyotrophic lateral sclerosis 2
infantile-onset ascending hereditary spastic paralysis 2

The ALS2 gene is also known by several other names, which are listed above. This gene is rapidly gaining importance in scientific research, as it has been found to be associated with several conditions such as amyotrophic lateral sclerosis (ALS) and infantile-onset ascending hereditary spastic paralysis (IAHSP).

ALSin is a specialized gene that plays a crucial role in the movement and function of motor neurons in the central and peripheral nervous systems. Motor neurons are specialized cells that control the movement of muscles, particularly in the arms and legs. Changes within the ALS2 gene can alter the function of these motor neurons, leading to the development of diseases such as ALS and IAHSP.

The ALS2 gene is listed in various genetic databases and resources, including OMIM, GeneCards, and PubMed. These databases contain additional information, references, and articles on the ALS2 gene, making them important resources for scientific research and testing.

Other genes related to ALS and spastic paraplegia, such as EYMARD-PIERRE, TUDOR, and SHAW, are also listed within these databases. These genes may share similar functions or be associated with similar diseases, further emphasizing the important role of the ALS2 gene in these conditions.

Testing for variants in the ALS2 gene can be an important part of genetic testing for individuals with symptoms or a family history of ALS or related conditions. Identifying changes or mutations in this gene can help healthcare professionals make a definitive diagnosis and provide appropriate treatment and management options.

It is important to consult with a healthcare professional or genetic counselor for more information on the ALS2 gene, associated diseases, and available testing options.

Additional Information Resources

For additional information on ALS2 gene and hereditary spastic paraplegia, you can refer to the following specialized resources:

Amyotrophic Lateral Sclerosis (ALS) Online Genetic Database: A comprehensive database that provides information on genetic changes associated with ALS and other related diseases. It includes references to scientific articles and important genetic alterations.
Cleveland Clinic ALS Registry: A primary registry for ALS patients, providing information on conditions and specialized tests for diagnosing ALS.
OMIM – Online Mendelian Inheritance in Man: A catalog of human genes and genetic disorders. You can find information on ALS2 gene and its associated diseases within this database.
PubMed: A well-known scientific database that offers access to a vast number of articles related to ALS2 gene and its variants.

In addition, the following resources provide valuable information on hereditary spastic paraplegia and related conditions:

Hereditary Spastic Paraplegia Genetic Subtypes Database: A specialized database that lists the genetic subtypes associated with hereditary spastic paraplegia and provides references for further reading.
GeneReviews: Provides concise and up-to-date information on genetic disorders, including hereditary spastic paraplegia.
Ascending Paralysis – Tudor Eymard-Pierre: A website dedicated to providing information on ascending paralysis, particularly in the context of juvenile and infantile-onset forms of the disease.

These resources offer a wealth of information on ALS2 gene, hereditary spastic paraplegia, and related conditions. They are particularly important for understanding the genetic changes associated with ALS and the impact on the central nervous system, nerve cells, and movement in the legs and arms.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various hereditary diseases, particularly those associated with changes in the ALS2 gene. This gene is primarily involved in the health and function of nerve cells within the central and peripheral nervous systems.

ALS2 gene changes are associated with a range of conditions, including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and amyotrophic lateral sclerosis (ALS). Rapidly progressing muscle weakness and spasticity predominantly affecting the legs and arms are observed in these conditions.

The tests listed in the Genetic Testing Registry catalog the genetic variations in the ALS2 gene and other related genes. These tests are especially important for identifying genetic changes that may contribute to the development of neurodegenerative disorders.

In addition to the Genetic Testing Registry, other resources such as PubMed, OMIM, and Genet provide additional scientific articles, references, and information on genetic testing for ALS2 gene variants and related conditions. These databases contain a wealth of specialized information on hereditary diseases and can be valuable tools for healthcare professionals and researchers.

Some of the tests listed in the registry include:

The ALS2 gene test: This test examines the ALS2 gene for any alterations or mutations that may be associated with ALS, IAHSP, or JPLS.
The ALSIN gene test: This test focuses specifically on the ALSIN gene, which is closely related to ALS and other motor neuron diseases.
The EYMARD-PIERRE variant test: This test looks for a specific variant in the ALS2 gene that is associated with EYMARD-PIERRE syndrome, a rare form of hereditary spastic paraplegia.
The TUDOR gene test: This test examines the TUDOR gene, which has been found to play a role in the development of ALS and other neurodegenerative disorders.

These tests serve as valuable tools for diagnosing and managing conditions associated with ALS2 gene changes. By identifying these genetic variations, healthcare professionals can provide targeted treatments and interventions to individuals affected by these conditions.

Scientific Articles on PubMed

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It provides information on the ALS2 gene, particularly its association with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) conditions. OMIM is a valuable resource for researchers and healthcare professionals seeking additional information on these diseases.

Cleveland Clinic’s Genomic Medicine Institute offers a specialized ALS registry that collects and rapidly updates information on ALS and related diseases. This registry provides a wealth of information on the ALS2 gene and its role in the development and progression of ALS. It also offers genetic testing for individuals who may be at risk for hereditary forms of ALS.

The ALSIN gene, also known as ALS2, is associated with infantile-onset ascending hereditary spastic paralysis (IAHSP). Research articles available on PubMed provide important scientific information on this gene and its role in the development of IAHSP. These articles discuss genetic alterations, changes in movement and nerve cells, and testing methods for identifying variants in the ALS2 gene.

The scientific articles listed on PubMed also highlight the association between the ALS2 gene and other conditions, such as juvenile primary lateral sclerosis (PLS). They discuss the important role of ALSIN in the health and function of motor neurons, particularly in the arms and legs. The articles reference studies that have identified mutations in the ALS2 gene as a cause of PLS and ALS.

Genetic databases, such as the Genet database, provide valuable resources for researchers looking for additional information on the ALS2 gene and its associated diseases. These databases contain references to scientific articles, patient registries, and clinical testing resources related to ALS and PLS.

In summary, scientific articles available on PubMed and related databases offer a wealth of information on the ALS2 gene and its association with conditions such as ALS, PLS, and IAHSP. These articles provide important insights into the genetic alterations, changes in movement and nerve cells, and testing methods associated with the ALS2 gene. Researchers and healthcare professionals can utilize these resources to further understand and develop treatments for these devastating diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a central resource for information on genes and genetic diseases. It provides a comprehensive catalog of genes and associated diseases, including the ALS2 gene.

The ALS2 gene, also known as ALSIN, is a variant of the ALSTIN gene. Mutations in this gene can alter the function of ALS2, leading to amyotrophic lateral sclerosis (ALS) and other related hereditary diseases.

The ALS2 gene is particularly important for specialized cells within the central nervous system, such as motor neurons. These cells are responsible for controlling the movement of the body, including the arms and legs. When the ALS2 gene is mutated, these cells deteriorate rapidly, leading to paralysis and other motor impairment conditions.

OMIM provides a comprehensive list of genes associated with ALS, including ALS2. Information on the ALS2 gene and related diseases can be found within these articles and references provided in the catalog.

Additional information on ALS, such as testing and resources for genetic testing, can be found in the ALS registry and other scientific databases, such as PubMed. These resources provide important information for the diagnosis and management of ALS and related conditions.

OMIM also provides information on other related diseases, such as progressive muscular atrophy (PMA) and primary lateral sclerosis (PLS). These diseases share some similarities with ALS and may have overlapping genetic causes.

In summary, the catalog of genes and diseases from OMIM provides a wealth of information on ALS2 and other genes associated with ALS. It is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of ALS and related conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information about genetic changes, particularly those associated with diseases. For the ALS2 gene, which is associated with amyotrophic lateral sclerosis type 2 (ALS2), there are several databases that are dedicated to collecting and organizing information on genetic variants within this gene.

One of the primary databases for ALS2 gene variants is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides detailed information on genetic changes and their associated health conditions. It lists the names and descriptions of variants, as well as references to scientific articles that have explored the impact of these changes on health.

Another important resource for gene and variant information is PubMed. PubMed is a database of scientific articles that provides access to information on a wide range of topics, including genetic changes associated with diseases. It can be used to find additional research on the ALS2 gene and its variants, as well as related conditions.

For specialized databases specifically focused on ALS2 and related conditions, the ALSoD (Amyotrophic Lateral Sclerosis Online Genetics Database) and the Cleveland Clinic ALS Registry are important resources. These databases contain information on genetic variants in ALS-associated genes, including ALS2. They provide data on the frequency of variants, as well as clinical information on affected individuals.

In addition to these databases, there are also other resources available for gene and variant information, such as the Genomic Medicine Catalog, which lists genetic tests and the genes they target. The Human Gene Mutation Database (HGMD) is another valuable resource that provides information on genetic changes associated with human diseases.

Overall, gene and variant databases are essential tools for researchers and clinicians studying ALS2 and other diseases. They provide a wealth of information on genetic changes associated with these conditions, helping to enhance our understanding of the underlying causes and potential treatment options.

References

Here is a list of resources and databases that provide additional information on the ALS2 gene and related topics:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of a variety of diseases, including amyotrophic lateral sclerosis (ALS) and related conditions. The entry for the ALS2 gene can be found at https://omim.org/entry/606352.
GeneReviews: This resource provides expert-authored, peer-reviewed articles on genetic conditions. The article on ALS2-related disorders can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK1255/.
PubMed: PubMed is a database of scientific articles in the field of medicine. Searching for “ALS2 gene” or related terms will provide a wealth of scientific information and research articles on this topic.
ALS Online Genetic Database (ALSoD): ALSoD is a specialized database that focuses specifically on ALS genetics and associated genes. It provides detailed information on genetic variants, phenotypes, and associated diseases. The ALS2 gene is listed in their catalog at http://alsod.iop.kcl.ac.uk/Genes.aspx?data=2.
The Cleveland Clinic ALS Registry: This registry collects information on patients diagnosed with ALS or related conditions. It can provide valuable information on the prevalence and characteristics of these diseases. More information can be found at https://my.clevelandclinic.org/departments/neurological/depts/als/living-with-als/als-registry.

These resources can be particularly important for individuals and families affected by ALS2 gene variants and related diseases. They provide access to specialized testing, health information, and support. Additionally, they may contain updates on scientific research and treatment advances.