SPG11 gene

The SPG11 gene, also known as spatacsin, is responsible for a type of hereditary spastic paraplegia called SPG11. This gene is found in the GTP-binding family and is located on chromosome 15q21.3.

SPG11 is an autosomal recessive disorder characterized by progressive spasticity and weakness in the lower limbs, leading to paralysis. It is one of the most common forms of autosomal recessive hereditary spastic paraplegia and has a wide spectrum of clinical manifestations.

Research on the SPG11 gene has led to the identification of several variants and changes in its protein, providing valuable insight into the pathogenesis of the disease. This information has also contributed to the development of genetic tests and screening tools for the diagnosis of SPG11.

The SPG11 gene is listed in various genetic databases, including OMIM, the Human Gene Mutation Database, and the PubMed database. These resources provide additional information on the gene, its associated diseases, and references to scientific articles related to SPG11.

The SPG11 gene is just one of many genes associated with spastic paraplegia. There are over 70 known genes that cause various forms of spastic paraplegia, each with its own unique clinical presentation and genetic basis.

Understanding the genetic basis of diseases like SPG11 is crucial for the development of targeted treatments and therapies. The identification of the SPG11 gene has opened doors to further research into the underlying causes of hereditary spastic paraplegia and has provided valuable insights into the overall function of the nervous system.

In conclusion, the SPG11 gene is an important player in the pathogenesis of hereditary spastic paraplegia. Its identification has led to advancements in genetic testing and understanding of related diseases. Further research on this gene and other genes involved in spastic paraplegia will continue to shed light on the complex nature of these conditions, helping to improve diagnosis and treatment options for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the SPG11 gene are associated with various health conditions.

  • Charcot-Marie-Tooth disease, type 2X (CMT2X): This is an autosomal recessive disorder characterized by peripheral nervous system abnormalities. Mutations in the SPG11 gene can result in CMT2X.
  • Hereditary spastic paraplegia type 11 (SPG11): SPG11 gene mutations cause this neurodegenerative disorder, leading to progressive spastic paraplegia.
  • Autosomal recessive amyotrophic lateral sclerosis 5 (ALS5): Some variants in the SPG11 gene have been associated with ALS5, a form of motor neuron disease characterized by the degeneration of nerve cells.
  • Other spastic paraplegia spectrum disorders: Genetic changes in the SPG11 gene may also be linked to other spectrum disorders within the spastic paraplegia category.

Additional information about these and other diseases related to SPG11 gene changes can be found in scientific articles, genetic testing resources, and databases such as OMIM, PubMed, and the GeneReviews catalog.

It is important to note that the names and specific characteristics of these diseases may vary in scientific literature and medical databases. Therefore, consulting authoritative sources and healthcare professionals is recommended for accurate and up-to-date information on these health conditions.

Spastic paraplegia type 11

Spastic paraplegia type 11 (SPG11) is a type of hereditary spastic paraplegia, which is a group of genetic disorders characterized by progressive lower limb spasticity and weakness.

SPG11 is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated SPG11 gene – one from each parent – in order to develop the condition. Genetic tests can be performed to identify mutations in the SPG11 gene.

Individuals with SPG11 may experience a wide spectrum of symptoms, ranging from mild to severe. In addition to spastic paraplegia, they may also have other neurological and motor problems. The disease can also be associated with cognitive impairment, thinning of the corpus callosum, and progressive white matter changes in the brain.

The SPG11 gene provides instructions for making a protein called spatacsin, which is found in the nervous system. Mutations in this gene can lead to a deficiency or malfunction of the spatacsin protein, disrupting normal cellular processes and causing the signs and symptoms of SPG11.

SPG11 is listed in various scientific databases, including the Online Mendelian Inheritance in Man (OMIM) catalog and the GeneReviews database. These resources provide detailed information about the gene, associated diseases, and genetic testing options.

In addition to SPG11, there are other genes related to spastic paraplegia, such as SPG4 (related to Charcot-Marie-Tooth disease), and SPG31. Information about these genes, as well as additional resources and references, can be found in scientific articles and databases like PubMed.

Testing for SPG11 and other related genes may be available through specialized laboratories or genetic testing companies. This can help confirm a diagnosis and provide information about the specific variant of the gene that is causing the condition.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a genetic disorder characterized by progressive degeneration of the motor neurons in the brain and spinal cord. It is a type of motor neuron disease that affects the nerves responsible for muscle movement.

ALS can be inherited in an autosomal dominant or autosomal recessive manner. The SPG11 gene, also known as spatacsin, is associated with a recessive form of ALS called spastic paraplegia 11 (SPG11). Mutations in the SPG11 gene can cause a spectrum of diseases, ranging from pure hereditary spastic paraplegia to complex forms with additional symptoms such as motor neuron disease and cognitive impairment.

Genetic testing can be used to identify mutations in the SPG11 gene and determine if a person is at risk for developing ALS or related conditions. Additional tests, such as electromyography (EMG) and nerve conduction studies, may be used to assess nerve and muscle function.

For more information on ALS and related conditions, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic disorders, including ALS and related conditions. You can search for the SPG11 gene and related articles on the OMIM website.
  • PubMed: The PubMed database contains scientific articles and research papers on various diseases, including ALS. You can search for specific keywords such as “SPG11 gene” or “amyotrophic lateral sclerosis” to find relevant articles.
  • Registry of Motor Neuron Disease: The Registry of Motor Neuron Disease is a database that collects clinical and genetic information on individuals with motor neuron diseases, including ALS. It provides valuable resources and references for healthcare professionals and researchers.
  • Charcot-Marie-Tooth Association: The Charcot-Marie-Tooth Association is an organization dedicated to raising awareness and providing support for individuals with Charcot-Marie-Tooth disease, which is a related neurological condition. Their website contains information on various genetic conditions and resources for patients and families.

In summary, amyotrophic lateral sclerosis is a genetic disease that affects the nervous system, specifically the motor neurons. Mutations in the SPG11 gene can lead to a spectrum of conditions, including ALS. Genetic testing and other diagnostic tests can help identify these changes and provide valuable information for healthcare professionals and individuals at risk.

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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited, nervous system disorders that affects the peripheral nerves, which are responsible for transmitting signals between the brain and the limbs. It is one of the most common inherited neurological diseases, with an estimated prevalence of 1 in 2,500 people worldwide.

CMT can cause a variety of symptoms, including muscle weakness and wasting in the feet, legs, hands, and arms; high-arched feet (pes cavus); decreased sensitivity to touch, heat, and cold; and difficulties with balance and coordination. The severity of symptoms can vary widely, even among members of the same family.

There are several different genetic changes that can cause CMT, and the SPG11 gene is one of them. SPG11-related CMT is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the changed SPG11 gene – one from each parent – to develop the disease. SPG11-related CMT is characterized by a range of symptoms, including progressive muscle weakness, spastic paraplegia, and cognitive impairment.

Diagnosis of Charcot-Marie-Tooth disease can be challenging, as it requires a combination of clinical evaluations, genetic testing, and nerve conduction studies. Genetic testing can identify changes in the SPG11 gene and other genes associated with CMT, providing valuable information for diagnosis and genetic counseling.

There are several resources available for additional information about Charcot-Marie-Tooth disease and the SPG11 gene. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes, genetic variants, and related conditions. The National Institutes of Health (NIH) has a registry of scientific articles and other resources related to Charcot-Marie-Tooth disease, including the GeneReviews database.

Overall, understanding the genetic basis of Charcot-Marie-Tooth disease, including the role of the SPG11 gene, is crucial for diagnosis, management, and research into potential treatments for this complex neurological disorder.

Other Names for This Gene

The SPG11 gene is also known by several other names:

  • Spastic Paraplegia 11 (recessive)
  • Autosomal Recessive Spastic Paraplegia Type 11
  • Corpus callosum, changes in thickness of, with Spastic Paraplegia and Amyotrophic Lateral Sclerosis
  • Charcot-Marie-Tooth, type 11
  • Spastic Paraplegia, Autosomal Recessive, of Childhood, Thin Corpus Callosum, and Progressive Microcephaly

In addition to these names, the SPG11 gene is associated with a spectrum of conditions including:

  • Spastic Paraplegia
  • Thin Corpus Callosum
  • Changes in the thickness of the corpus callosum
  • Spastic Paraplegia and Amyotrophic Lateral Sclerosis
  • Charcot-Marie-Tooth disease
  • Amyotrophic Lateral Sclerosis
  • Progressive Microcephaly

For more information about the SPG11 gene and related conditions, you can refer to the following resources:

  • OMIM: Online Mendelian Inheritance in Man: SPG11
  • PubMed: Search for scientific articles related to the SPG11 gene
  • GeneReviews: SPG11-Related Hereditary Spastic Paraplegia
  • Genetic and Rare Diseases Information Center: SPG11 gene
  • SPG11 Registry: A registry for individuals with SPG11-related disorders

The SPG11 gene is one of many genes associated with spastic paraplegia. If you are interested in genetic testing for spastic paraplegia or related conditions, you can find a list of available tests and additional resources from the following databases and catalogs:

Database/Catalog Website
Genetics Home Reference https://ghr.nlm.nih.gov/gene/SPG11
OMIM https://www.omim.org/entry/604360
GeneTests https://www.genetests.org/gene/spg11-recessive/

These resources provide valuable information and support for individuals and families affected by SPG11-related disorders.

Additional Information Resources

Here is a list of additional resources that provide more information about the SPG11 gene, related conditions, and testing:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes, genetic conditions, and the relationship between genes and diseases. You can find detailed information about SPG11, including gene changes (variants), diseases associated with SPG11, and references to scientific articles.
  • PubMed: PubMed is a widely used database of scientific articles. You can search for publications related to SPG11, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, and other related conditions.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized resource that provides information about genetic tests. You can find information about available tests for SPG11 and related conditions, as well as laboratories that offer these tests.
  • SPG11 Gene in Other Databases: SPG11 is listed in various genetic databases, including the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Animals (OMIA) database. These databases provide additional information about the gene and its related diseases.
  • SPG11 Gene Variant Databases: Several databases collect information about genetic variants in the SPG11 gene. These databases, such as the Leiden Open Variation Database (LOVD), facilitate the sharing and analysis of variant data.
  • Related Genes and Diseases: SPG11 is part of a spectrum of diseases known as spastic paraplegia. Understanding related genes and diseases can provide a broader context for studying SPG11 and its role in the nervous system. Some related genes include SPG7, SPG15, and SPG21.
  • Catalog of Human Genes and Genetic Disorders: The OMIM database provides a catalog of human genes and genetic disorders. You can find information about other genes involved in spastic paraplegia and related conditions.
  • Scientific Articles: There are numerous scientific articles that provide insights into SPG11 and related conditions. These articles cover topics such as the molecular basis of the disease, clinical presentations, and potential therapeutic approaches.
  • Health Information: Various health organizations and websites provide information about SPG11 and related conditions. These resources can help individuals and families better understand the disease, its symptoms, and available treatment options.

Tests Listed in the Genetic Testing Registry

The SPG11 gene, also known as the spatacsin gene, is associated with various neurological conditions including hereditary spastic paraplegia (HSP) and amyotrophic lateral sclerosis (ALS) spectrum diseases. Mutations in the SPG11 gene can lead to a variant of HSP characterized by progressive spasticity and neurodegeneration.

Genetic testing allows for the detection of changes or mutations in the SPG11 gene that may be related to these conditions. The Genetic Testing Registry (GTR) lists several tests for the SPG11 gene, provided by different laboratories and testing centers.

Tests listed in the GTR for the SPG11 gene include:

  • SPG11 gene sequencing: This test involves analyzing the DNA sequence of the SPG11 gene to look for any variations or mutations.
  • SPG11 gene deletion/duplication analysis: This test looks for large deletions or duplications of genetic material within the SPG11 gene.
  • SPG11 gene targeted variant analysis: This test focuses on specific known variants or mutations in the SPG11 gene.

Additional information about these tests, including the type of testing method used and references to scientific articles, can be found in the GTR catalog for the SPG11 gene. This catalog provides details on the purpose of the test, associated diseases or conditions, and the names of the genes and variants being tested. It also includes information from resources like OMIM (Online Mendelian Inheritance in Man) and PubMed.

Genetic testing for the SPG11 gene can help individuals and healthcare professionals in diagnosing and managing hereditary spastic paraplegia and related disorders. By identifying specific gene mutations, this testing can provide valuable information about the underlying causes of these conditions and aid in genetic counseling and treatment decisions.

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Resources References
Genetic Testing Registry (GTR) Stevanin G, et al. Mutations in the SPG11 gene cause hereditary spastic paraplegia with thin corpus callosum. Ann Neurol. 2007;62(3): 354- 359.
OMIM Stevanin G, et al. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Hum Genet. 2008;82(2): 433- 439.
PubMed Lo Giudice T, et al. Phenotypic variability of SPG11 gene mutations in recessive hereditary spastic paraplegia. Clin Genet. 2006;70(3): 263- 269.

Scientific Articles on PubMed

The SPG11 gene is a recessive gene that is closely related to various neurological conditions, including spastic paraplegia. PubMed is a comprehensive database of scientific articles that contains a wealth of information about these conditions and the role of the SPG11 gene.

PubMed databases provide information about changes in the SPG11 gene and its association with other genetic diseases, such as Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. The database also includes articles on additional genes and their role in these conditions.

Scientific articles on PubMed provide information on various tests and genetic testing options for SPG11 and related genes. They also provide a catalog of names and variants associated with these genes, as well as information on the spectrum of neurological conditions they can cause.

The PubMed databases list articles from various sources, including the National Library of Medicine, the National Institutes of Health, and other reputable scientific institutions. These articles offer valuable insights into the SPG11 gene and its impact on the nervous system.

Researchers and healthcare professionals can use PubMed to access a wide range of scientific articles related to SPG11 and related genes. The database serves as a valuable resource for staying up to date on the latest research and discoveries in this field.

In conclusion, the scientific articles available on PubMed provide a wealth of information about the SPG11 gene, its related conditions, and the impact it has on the nervous system. By accessing PubMed, researchers and healthcare professionals can stay informed about the latest research and advancements in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals to access information about genes and their related diseases. It provides a comprehensive corpus of scientific articles, references, and additional information on a wide spectrum of genetic disorders. One of the genes listed in the catalog is the SPG11 gene, which is related to a recessive form of hereditary spastic paraplegia (HSP).

Hereditary spastic paraplegia is a group of neurodegenerative disorders characterized by progressive weakness and stiffness in the lower limbs. The SPG11 gene encodes the protein spatacsin, and mutations in this gene can lead to changes in the structure or function of the protein, causing the development of HSP. Other genes related to HSP, such as SPG genes, Charcot-Marie-Tooth disease genes, and amyotrophic lateral sclerosis genes, are also listed in the catalog.

For individuals suspected of having HSP or related conditions, genetic testing can be conducted to identify specific mutations in genes like SPG11. This type of testing can be performed by healthcare providers or specialized laboratories and can help with accurate diagnosis and personalized treatment options. The OMIM catalog provides information about available genetic tests and references to scientific articles on the subject.

In addition to genes associated with HSP, the OMIM catalog includes information on a wide range of other genetic disorders and diseases. It serves as a comprehensive resource for researchers, healthcare professionals, and patients to access relevant information on various genetic conditions. The catalog also references related resources, databases, and registries, such as PubMed, to provide a comprehensive understanding of the genetic landscape.

Genes and Diseases in the OMIM Catalog
Gene Disease
SPG11 Hereditary Spastic Paraplegia
SPG genes Spastic Paraplegia
Charcot-Marie-Tooth disease genes Charcot-Marie-Tooth Disease
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis

The OMIM catalog provides a comprehensive and centralized repository of information about genes and their associated diseases. It facilitates research, genetic testing, and informed decision-making in the field of genetic health. Researchers and healthcare professionals can make use of this catalog to access current and reliable information, enriching their understanding of genetic disorders and contributing to advancements in the field.

Gene and Variant Databases

The SPG11 gene, also known as the spastic paraplegia gene 11, is associated with a recessive form of hereditary spastic paraplegia (HSP). HSP is a group of genetic diseases characterized by progressive spasticity and weakness of the lower limbs. Additional symptoms may include cognitive impairment, peripheral neuropathy, and other neurological abnormalities.

Several databases provide information about the SPG11 gene and its variants. These databases serve as valuable resources for scientists, healthcare professionals, and individuals seeking more information about this gene and related conditions.

1. OMIM (Online Mendelian Inheritance in Man)

OMIM is a comprehensive catalog of human genes and genetic phenotypes. It provides detailed information about the SPG11 gene, including its structure, function, and associated diseases. OMIM also includes references to scientific articles, clinical descriptions, and genetic testing information.

2. PubMed

PubMed is a database of scientific articles, primarily in the field of health and life sciences. Researchers can find published studies related to the SPG11 gene and its role in various conditions such as hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and amyotrophic lateral sclerosis. PubMed helps scientists stay up-to-date with the latest research in the field.

3. HGMD (Human Gene Mutation Database)

HGMD is a comprehensive resource that collects information about genetic mutations reported in the medical literature. It includes both disease-causing mutations and benign variants. Researchers can find data about SPG11 gene mutations associated with spastic paraplegia and other related conditions in the HGMD database.

4. ClinVar

ClinVar is a public archive of genetic variants and their clinical significance. It collects data from various sources, including research laboratories and clinical testing laboratories. ClinVar provides information about SPG11 gene variants and their association with hereditary spastic paraplegia and other conditions.

These database resources can help researchers and healthcare professionals gain a better understanding of the SPG11 gene and its role in various conditions. They provide valuable information about genetic changes, protein structure, and associated diseases. Additionally, these databases serve as references for genetic testing and research in the field of neurology.

References

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