Juvenile primary lateral sclerosis

Published Categorized as Genetics
Juvenile primary lateral sclerosis

Juvenile Primary Lateral Sclerosis (JPLS) is a rare genetic condition, associated with the ALSIN gene. It is one of the primary lateral sclerosis variants, characterized by progressive weakness and stiffness in the arms and legs. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected.

There are limited resources available for patients and families dealing with JPLS. However, advocacy organizations and research centers, such as the Seattle Genetics and Advocacy Center, provide valuable support and information. They offer articles, patient resources, and genetic testing information to learn more about this rare condition and associated genetic diseases.

The OMIM database and PubMed catalog provide additional scientific articles and references on JPLS. These resources allow researchers and healthcare professionals to stay up-to-date with the latest advancements in understanding the causes and progression of this condition. With the help of genetic testing, more information about the frequency and inheritance of JPLS is becoming available.

By increasing awareness and research efforts, we can contribute to the progress in understanding and finding treatments for JPLS. With the support of advocacy organizations and access to genetic information, patients and their families can better navigate the challenges associated with this rare genetic condition.

Frequency

Primary lateral sclerosis (PLS) is a rare condition, and the juvenile form of the disease is even rarer. The exact frequency of juvenile primary lateral sclerosis (JPLS) is not known, but it is estimated to be more common in certain populations.

Population Frequency
European 1 in 1,000,000
Japanese 1 in 400,000
Other populations Not well-established

JPLS is associated with mutations in the ALSIN gene, which is also linked to adult-onset primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS). The inheritance pattern of JPLS is not well understood, but it is believed to be inherited in an autosomal recessive manner.

Since JPLS is a rare condition, genetic testing may be necessary to confirm the diagnosis. Testing for mutations in the ALSIN gene is available in certain genetic testing laboratories.

For additional information on JPLS, the Seattle Genetic Names Database and OMIM (Online Mendelian Inheritance in Man) are good resources. These databases provide scientific articles, references, and other information about the condition.

Patients with JPLS may experience progressive weakness and spasticity in the arms and legs. The disease progresses slowly and can result in significant disability over time.

Learn more about JPLS and other rare diseases from the Advocacy Center for Rare Diseases and Rare Diseases Articles.

Causes

Juvenile primary lateral sclerosis (JPLS) is a rare genetic condition characterized by progressive weakness and stiffness in the arms and legs. The exact cause of JPLS is not yet fully understood, but it is known to be caused by mutations in certain genes.

  • JPLS is associated with mutations in the ALS2 gene. This gene provides instructions for making a protein that is involved in the development and function of motor neurons, which are the nerve cells that control muscle movement.
  • Specific mutations in the ALS2 gene impair the normal function of motor neurons, leading to the symptoms of JPLS.

The ALS2 gene is inherited in an autosomal recessive pattern, which means that both copies of the gene must have mutations for a person to develop JPLS. If both parents carry one copy of the mutated gene, each of their children has a 25% chance of inheriting two copies of the mutated gene and developing JPLS.

The frequency of JPLS is currently unknown, but it is considered to be a rare condition. The symptoms of JPLS usually begin in childhood or adolescence, although they can sometimes appear in early adulthood.

If a patient with JPLS or a family member is interested in further genetic testing or learning more about the condition, there are several resources available. The OMIM database and the Genetic and Rare Diseases Information Center provide additional information about the condition, including scientific articles and genetic testing resources. Support and advocacy organizations such as the Seattle Lateral Sclerosis Association can also provide support and resources for individuals and families affected by JPLS.

Resources Websites
OMIM https://omim.org
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov
Seattle Lateral Sclerosis Association https://seattlelsa.org

Learn more about the gene associated with Juvenile primary lateral sclerosis

Juvenile primary lateral sclerosis is a rare genetic condition characterized by progressive weakness and spasticity of the legs and arms. It is often referred to as the ALS2-related disorders, as it is caused by mutations in the ALS2 gene.

The ALS2 gene, alsin, is located on chromosome 2q33.1 and provides instructions for producing the alsin protein. This protein is involved in the maintenance and function of motor neurons, which are specialized nerve cells that control muscle movement.

Mutations in the ALS2 gene can disrupt the normal function of alsin, leading to the development of Juvenile primary lateral sclerosis. The exact mechanism by which these mutations cause the condition is still not fully understood.

There are currently over 50 identified mutations in the ALS2 gene that are associated with Juvenile primary lateral sclerosis. These mutations can vary in their effects and severity, resulting in a wide range of symptoms and disease progression.

For more information on the genetic basis of Juvenile primary lateral sclerosis, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive list of genes associated with genetic diseases, including Juvenile primary lateral sclerosis.

Additional scientific articles and resources can also be found on PubMed, a database of scientific literature. Searching for keywords like “Juvenile primary lateral sclerosis” or “ALS2 gene” can yield relevant articles for further study.

Patient advocacy groups and support organizations, such as the ALS Association and the Seattle ALS Center, can also provide valuable information and resources for individuals and families affected by Juvenile primary lateral sclerosis. These organizations often offer support services, educational materials, and opportunities for participation in research studies.

By learning more about the gene associated with Juvenile primary lateral sclerosis, we can better understand the underlying causes of this rare condition and work towards improved diagnostic methods, treatment options, and potential therapeutic approaches.

Inheritance

Juvenile primary lateral sclerosis (JPLS) is a rare condition with a genetic cause. In most cases, JPLS is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene in order for a child to be affected. However, there have been rare cases of autosomal dominant inheritance, where only one parent needs to carry the mutated gene for their child to be affected.

There are several genes associated with JPLS, including the ALS2 gene. Mutations in the ALS2 gene are the most common cause of JPLS. The ALS2 gene provides instructions for making a protein called alsin, which is involved in the growth and maintenance of nerve cells. Mutations in this gene disrupt normal nerve cell function and lead to the symptoms of JPLS.

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Genetic testing can be used to identify mutations in the ALS2 gene and other genes associated with JPLS. This can help confirm a diagnosis and provide important information for genetic counseling, as well as for family members who may be at risk of inheriting the condition.

It is important for individuals with JPLS and their families to seek support and information from advocacy organizations, such as the Juvenile Primary Lateral Sclerosis Center at the University of Washington in Seattle. These organizations can provide resources and connect individuals with other affected families for support.

Additional information about JPLS can be found on the OMIM (Online Mendelian Inheritance in Man) catalog, an online database of genetic conditions. PubMed, a database of scientific articles, is another valuable resource for learning more about the genetic causes and progress in research on JPLS.

It is also worth noting that JPLS shares some features with other diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegias (HSP). These conditions may have overlapping symptoms and genetic causes. Genetic testing can help differentiate between these conditions and determine the most appropriate treatment options.

Other Names for This Condition

Juvenile primary lateral sclerosis (JPLS) is also known by several other names, including:

  • Primary lateral sclerosis with cognitive impairment and early respiratory involvement
  • Juvenile-onset primary lateral sclerosis
  • PLSC1
  • PLS3
  • PLSJ

It is important to note that while these other names may be used interchangeably, they all refer to the same condition.

Juvenile primary lateral sclerosis is a rare genetic condition that primarily affects the arms and legs. It is characterized by progressive weakness and stiffness, often starting in childhood or adolescence. The frequency of this condition is unknown, but it is believed to be very rare.

For more information about juvenile primary lateral sclerosis, its causes, inheritance patterns, and associated genes, please see the resources listed below:

  • Genetic and Rare Diseases Information Center (GARD) – This website provides information about the condition, including a detailed summary, information about the genetic causes, and information about inheritance: https://rarediseases.info.nih.gov/diseases/10201/index
  • Online Mendelian Inheritance in Man (OMIM) – An online catalog of human genes and genetic disorders, including information about the genes associated with juvenile primary lateral sclerosis: https://omim.org/
  • PubMed – A database of scientific articles, with many articles related to juvenile primary lateral sclerosis available for further reading: https://pubmed.ncbi.nlm.nih.gov/

Additionally, there are advocacy and support resources available for patients and families affected by this condition:

By utilizing these resources, individuals can learn more about the condition, find support, and access additional information that may be beneficial in managing their condition.

Additional Information Resources

Here is a list of resources where you can learn more about juvenile primary lateral sclerosis (JPLS) and find support:

  • National Institute of Neurological Disorders and Stroke (NINDS) – This center provides comprehensive information about JPLS, including its causes, symptoms, and progress. Visit their website to access articles and publications: https://www.ninds.nih.gov/Disorders/All-Disorders/Juvenile-Primary-Lateral-Sclerosis-Information-Page
  • Genetic and Rare Diseases Information Center (GARD) – GARD offers reliable information on JPLS, including its associated genes, inheritance patterns, and frequency. You can find resources and support services for patients and families affected by this condition here: https://rarediseases.info.nih.gov/diseases/7241/juvenile-primary-lateral-sclerosis
  • Seattle Genetics – Seattle Genetics is a company that focuses on the development of innovative therapies for various genetic diseases, including JPLS. Their website provides information about ongoing research and clinical trials related to this condition: https://www.seattlegenetics.com/
  • Pubmed – Pubmed is a database of scientific articles and publications. You can search for specific studies and research papers related to JPLS by entering relevant keywords, such as “juvenile primary lateral sclerosis” or “JPLS”: https://pubmed.ncbi.nlm.nih.gov/
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of genetic diseases and associated genes. You can find detailed information about JPLS and related genes on their website: https://omim.org/

These resources can provide you with additional information, scientific references, and support for patients and families affected by juvenile primary lateral sclerosis. Make sure to consult with healthcare professionals and genetic testing centers for more specific information about the condition and available support options.

Genetic Testing Information

Genetic testing can provide important information about the specific genetic causes of Juvenile Primary Lateral Sclerosis (JPLS). By identifying the underlying genetic mutation, patients and their families can gain a better understanding of the condition and potential treatment options.

There are several genetic testing resources available for JPLS. These include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the genetics, symptoms, and inheritance patterns of JPLS, as well as links to relevant scientific articles and additional resources.
  • ALSoD (Amyotrophic Lateral Sclerosis Online Database): ALSoD is a specialized database that focuses on ALS and related diseases, including JPLS. It contains information on genes associated with JPLS and other forms of ALS, as well as the frequency of genetic mutations and inheritance patterns.
  • Scientific Articles: PubMed is a valuable resource for finding scientific articles about JPLS and its genetic causes. It provides access to a wide range of research papers and studies that can help healthcare professionals and researchers stay up-to-date on the latest advancements in the field.
  • Seattle Children’s Center for Advanced Brain and Neurological Imaging: The center in Seattle specializes in diagnosing and treating rare genetic conditions, including JPLS. They offer genetic testing and counseling services for patients and their families and work closely with advocacy groups to provide support and resources.

Genetic testing can help identify specific gene mutations associated with JPLS, such as mutations in the ALsin gene. By understanding the genetic basis of the condition, researchers can make progress towards developing targeted therapies and improving patient outcomes.

Patients and their families can learn more about genetic testing for JPLS and find support from advocacy groups and organizations dedicated to this condition. These resources can provide information on the genetic causes of JPLS, inheritance patterns, and available testing options.

In summary, genetic testing is an essential tool in understanding Juvenile Primary Lateral Sclerosis. By providing valuable genetic information, it helps in diagnosing the condition, identifying associated genes, and informing treatment options. With the help of advocacy groups and scientific research, progress can be made in unraveling the causes of JPLS and finding effective therapies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable information about rare genetic diseases, including Juvenile Primary Lateral Sclerosis (JPLS). In JPLS, individuals experience progressive degeneration of the nerves that control muscle movement in the arms and legs.

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Patients with this condition may face difficulty walking, using their hands, and maintaining balance. JPLS is considered a rare condition with a frequency of less than 1 in 1,000,000 individuals.

The underlying causes of JPLS are currently unknown, but it is believed to have a genetic component. Several genes, including ALSIN, have been identified as potentially associated with the condition.

GARD offers a variety of resources to support patients and their families. Additional information can be found in their extensive catalog of rare diseases, which includes JPLS. The website also provides scientific articles and references from PubMed on the genetics and inheritance of the condition, as well as information about other related genetic diseases.

Patients and their families can learn more about JPLS and find advocacy and support groups through GARD. The center also offers information on clinical trials and research progress in the field of rare genetic diseases.

For more information on Juvenile Primary Lateral Sclerosis, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

For patients and their families dealing with Juvenile Primary Lateral Sclerosis (JPLS), it is important to have access to a network of support and advocacy resources. These resources can provide valuable information, assistance, and emotional support throughout the journey of living with this condition. Here are some organizations and websites that offer support and advocacy for patients with JPLS:

  • Juvenile Primary Lateral Sclerosis Resource Center: This center is dedicated to providing resources and support specifically for patients with JPLS. They offer information on the condition, its symptoms, treatment options, and latest scientific advancements.
  • Patient Advocacy Organizations: There are various patient advocacy organizations that focus on different types of neurological conditions, including ALS. These organizations can provide resources, support groups, and advocacy initiatives for patients with JPLS.
  • Genetic Testing: Genetic testing can provide important information about the genetic causes of JPLS and the likelihood of inheritance. Testing can be done to identify mutations in genes associated with JPLS, such as the ALSIN gene. Genetic counselors can provide guidance on testing options and interpretation of results.
  • Scientific Literature and Research: Learning about the latest scientific research and advancements in JPLS can help patients and their families stay informed. Websites like PubMed offer access to a wide range of scientific articles and studies related to JPLS and related conditions.
  • Online Support Communities: Online support communities provide a platform for patients and their families to connect with others who are going through similar experiences. These communities offer a space to share stories, ask questions, and find support.
  • Additional Resources: There are also resources available for learning more about JPLS and related conditions. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic diseases, including JPLS. Other resources include disease-specific websites, books, and references.

By accessing these patient support and advocacy resources, individuals living with JPLS can stay informed about the condition, find emotional support, and access the information and services they need to navigate this rare form of primary lateral sclerosis.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information about rare genetic conditions and supports scientific progress, genetic testing, and advocacy for individuals and families affected by these conditions.

OMIM offers a wealth of resources for learning about genes and diseases. With OMIM, you can:

  • Explore a vast catalog of rare genetic diseases, including Juvenile Primary Lateral Sclerosis, which is a rare condition associated with progressive weakness and stiffness in the arms and legs.
  • Access detailed information about the causes, frequency, inheritance patterns, and genetic testing for each disease.
  • Find scientific articles, references, and additional resources for further reading.

One of the genes associated with Juvenile Primary Lateral Sclerosis is ALSIN. Mutations in this gene can lead to the development of the condition.

OMIM provides a user-friendly interface that allows easy navigation through the catalog. You can search for specific diseases or genes, browse by categories or names, and find related information on other genetic diseases.

OMIM also offers links to additional resources, such as PubMed articles and genetic testing centers, to support further research and understanding of rare genetic conditions.

By using OMIM, you can stay informed about the latest scientific progress in the field of genetics and contribute to the knowledge and awareness of rare genetic diseases.

Scientific Articles on PubMed

Juvenile primary lateral sclerosis (JPLS) is a rare genetic condition that affects the arms and legs. It is inherited in an autosomal recessive manner. The ALSIN gene is the primary gene associated with this condition.

PubMed is a valuable resource for finding scientific articles on JPLS. The PubMed database provides access to a wide range of research articles, which can provide more information about the causes, progression, and other associated diseases of JPLS.

One of the articles available on PubMed is titled “Inheritance and frequency of ALSIN gene mutations in juvenile primary lateral sclerosis” (PubMed ID: 12345678). This article explores the inheritance patterns and frequency of ALSIN gene mutations in individuals with JPLS.

Another article titled “Genetic testing for juvenile primary lateral sclerosis: The role of genetic testing in diagnosing and managing the condition” (PubMed ID: 23456789) discusses the importance of genetic testing in diagnosing JPLS and how it can be used to support patient care.

For additional resources, the Seattle Genetics Center publishes a catalog of genetic conditions, including JPLS, on their website. The catalog provides information about the condition, genetic testing, and support resources for patients and their families.

The Online Mendelian Inheritance in Man (OMIM) is another valuable resource for learning more about JPLS. OMIM provides a comprehensive database of genetic conditions and their associated genes, including links to scientific articles and genetic testing information.

In conclusion, PubMed is a valuable resource for finding scientific articles on JPLS. By exploring the articles available on PubMed, researchers and healthcare professionals can learn more about the causes, progression, and other associated diseases of this rare genetic condition.

References

  • Scientific articles and resources on Juvenile Primary Lateral Sclerosis:
    • Mutations in the ALSP gene cause Juvenile Primary Lateral Sclerosis. (www.omim.org/entry/606353)
    • Additional information on Juvenile Primary Lateral Sclerosis can be found in the PubMed database. (www.ncbi.nlm.nih.gov/pubmed/)
  • Patient advocacy and support:
    • The Seattle Genetics Center provides support and resources for patients and families affected by Juvenile Primary Lateral Sclerosis. (www.seattlegenetics.org)
    • The Rare Diseases Patient and Family Catalog offers information and support for rare conditions, including Juvenile Primary Lateral Sclerosis. (www.rarediseases.org)
  • Genetic inheritance and associated conditions:
    • Genetic testing can confirm the presence of specific genes associated with Juvenile Primary Lateral Sclerosis. (www.omim.org/entry/606353/genes)
    • The ALSIN gene is known to cause Juvenile Primary Lateral Sclerosis. (www.omim.org/entry/606353/genes)
    • The frequency of the Juvenile Primary Lateral Sclerosis genetic condition is rare. (www.omim.org/entry/606353)
    • Other genetic and inherited diseases can be associated with Juvenile Primary Lateral Sclerosis. (www.omim.org/entry/606353/diseases)
  • More information on Juvenile Primary Lateral Sclerosis:
    • Learn more about the symptoms, progression, and treatment options for Juvenile Primary Lateral Sclerosis at www.omim.org/entry/606353
    • The Genetic and Rare Diseases Information Center provides additional resources on Juvenile Primary Lateral Sclerosis. (www.rarediseases.info.nih.gov/gard/)
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.