Spastic Paraplegia Type 4 (SPG4) is a rare hereditary condition that is characterized by progressive weakness and stiffness of the legs, also known as paraplegia. It is one of the more common types of hereditary spastic paraplegias, which are a group of genetic disorders that primarily affect the nerves that control muscle movement in the legs.

SPG4 is caused by mutations in the SPAST gene, which provides instructions for making a protein called spastin. This protein is involved in maintaining the structure and function of nerve cells. Mutations in the SPAST gene lead to a loss of spastin function, resulting in the development of spastic paraplegia.

SPG4 is generally inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, there are also rare cases of sporadic, or non-inherited, SPG4. Additional genetic and environmental factors are thought to contribute to the development of the condition in these cases.

There are several resources available for individuals and families affected by SPG4. The OMIM database provides comprehensive information on the known genetic, clinical, and research aspects of SPG4. The SPG4 Gene Reviews article is also a valuable resource for learning about the genetics and clinical features of the condition.

Frequency

Spastic paraplegia type 4 (SPG4) is a rare hereditary condition. It is one of the types of spastic paraplegias, which are a group of diseases characterized by spasticity (tightness/stiffness) in the lower limbs.

Studies have shown that SPG4 is generally caused by mutations in the SPAST gene. This gene provides instructions for making a protein called spastin, which is important for the normal function of nerve cells.

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The frequency of SPG4 is rare, with only a few cases reported in the scientific literature. As a result, information about this condition can be limited. However, there are resources available for patients and their families to learn more about SPG4, its causes, and other associated symptoms.

One such resource is the SPG4 Genetic Testing Center, which provides information about genetic testing options and inheritance patterns. The center also offers support and advocacy for patients and families affected by SPG4.

For more scientific information and research studies on SPG4, references can be found in PubMed, a database of scientific articles. The Online Mendelian Inheritance in Man (OMIM) catalog also provides additional information about SPG4 and other related genes.

Additional resources for information on clinical trials and research studies can be found on clinicaltrials.gov. This website provides information about ongoing studies and trials for SPG4 and other related conditions.

In summary, SPG4 is a rare condition associated with spastic paraplegia. It is caused by mutations in the SPAST gene and is characterized by tightness/stiffness in the lower limbs. Resources such as the SPG4 Genetic Testing Center, PubMed, OMIM, and clinicaltrials.gov provide valuable information and support for individuals affected by this condition.

Causes

Spastic paraplegia type 4 (SPG4) is a rare genetic condition caused by mutations in the SPAST gene. This gene provides instructions for making a protein called spastin, which is involved in the development and maintenance of nerve cells.

Most cases of SPG4 are inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. In some cases, however, SPG4 can occur sporadically without a family history of the condition.

SPG4 is one of many types of hereditary spastic paraplegias (HSP), a group of genetic disorders characterized by progressive muscle stiffness and weakness in the lower limbs. These conditions are generally caused by mutations in different genes, leading to various types of HSP.

There is no specific information about the frequency of SPG4 in the general population, but it is considered relatively rare. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog are reliable resources for more detailed information on the condition and associated genes.

Diagnosis of SPG4 can be confirmed through genetic testing, which analyzes the SPAST gene for mutations. Clinical trials and research studies may offer additional support and resources for patients and their families. Organizations such as advocacy groups and scientific centers provide information and support for individuals affected by SPG4 and other spastic paraplegias.

It is important for patients and their families to consult with healthcare professionals for proper diagnosis, genetic counseling, and treatment options. Further research and scientific studies are still ongoing to learn more about the causes and underlying mechanisms of SPG4 and other types of hereditary spastic paraplegias.

References:

• PubMed: Search for more articles on SPG4 and related diseases
• OMIM: The Online Mendelian Inheritance in Man catalog for genetic information
• ClinicalTrials.gov: Find clinical trials and research studies on SPG4
• Genetic and Rare Diseases Information Center: Resources on SPG4 and advocacy support

Learn more about the gene associated with Spastic paraplegia type 4

Spastic paraplegia type 4 (SPG4) is a hereditary condition that causes spasticity and other types of paraplegias. It is associated with the SPG4 gene, also known as the SPAST gene.

The SPG4 gene is located on chromosome 2 and its frequency is relatively high in pure Spastic Paraplegia cases. The SPG4 gene provides instructions for making a protein called spastin, which is involved in maintaining the structural integrity of nerve cells. Mutations in the SPG4 gene can lead to the production of abnormal spastin or reduce its levels, which affects the normal functioning of nerve cells and causes the symptoms of Spastic paraplegia type 4.

Research studies and clinical trials have provided additional information about the SPG4 gene and its role in the development of spastic paraplegia. Scientific articles, catalogs, and databases such as OMIM, PubMed, and GeneCards provide valuable resources and references for genetic information, inheritance patterns, and clinical studies associated with this condition.

For patients and their families, advocacy and support centers can provide information on testing options, available treatments, and ongoing studies related to Spastic paraplegia type 4. ClinicalTrials.gov is another useful resource to explore current research studies and clinical trials for this condition.

Learn more about the SPG4 gene and its association with Spastic paraplegia type 4 to gain a better understanding of this rare genetic condition and available resources for support and information.

Inheritance

Inheritance refers to the way a genetic condition like spastic paraplegia type 4 (SPG4) is passed down from parents to their children. SPG4 is a hereditary condition that is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the condition to each of their children.

SPG4 is caused by mutations in the SPAST gene. This gene provides instructions for making a protein called spastin, which plays a role in the structure and function of nerve cells. Mutations in the SPAST gene lead to the production of an abnormal version of the spastin protein, which results in the signs and symptoms of SPG4.

The genetic mutation responsible for SPG4 can be inherited from one affected parent or it can occur spontaneously in individuals with no family history of the condition. When a person with SPG4 has children, each child has a 50% chance of inheriting the mutated gene and developing the condition.

There are many different types of spastic paraplegias, and each type can have a different inheritance pattern. Some types are inherited in an autosomal recessive manner, others are inherited in an X-linked manner, and still others have a more complex inheritance pattern. It is important to speak with a genetic counselor or healthcare provider to learn more about the specific inheritance pattern associated with the type of spastic paraplegia you are interested in.

For more information about the inheritance of SPG4 and other types of hereditary spastic paraplegias, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders, including information on the inheritance of SPG4. Available at: https://www.omim.org/.
• PubMed: A database of scientific articles and research studies. Search for keywords like “spastic paraplegia inheritance” or “SPG4 inheritance” to find relevant studies and information. Available at: https://pubmed.ncbi.nlm.nih.gov/.
• ClinicalTrials.gov: A registry of clinical research studies. Search for keywords like “spastic paraplegia” or “SPG4” to find studies that may support additional information on the inheritance and causes of the condition. Available at: https://clinicaltrials.gov/.

In addition to these scientific resources, there are also advocacy and patient support organizations that provide information and resources for individuals and families affected by SPG4 and other types of spastic paraplegia. These organizations can provide more information on the inheritance patterns, symptoms, management, and treatment options for the condition.

Other Names for This Condition

• Spastic paraplegia type 4 (SPG4)
• Hereditary spastic paraplegia type 4
• SPG4, and other names for this condition
• Spasticity, hereditary, spastic paraplegia, type 4
• Spastic paraplegia 4, autosomal dominant
• SPAST-related hereditary spastic paraplegia
• SPG4, pure
• Autosomal dominant spastic paraplegia type 4

These are just a few of the names associated with this condition. There may be other names not listed here.

Spastic paraplegia type 4 (SPG4) is a rare genetic condition characterized by progressive weakness and spasticity (tightness and stiffness) in the legs. It is caused by mutations in the SPAST gene. SPG4 is inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the gene is sufficient to cause the condition.

Additional research is being conducted to better understand the genetic causes of SPG4 and other types of hereditary spastic paraplegias. Gene studies, advocacy organizations, and clinical trials are providing more information and support to patients and their families.

For more information about SPG4 and other types of spastic paraplegias, you can refer to the resources below:

1. Orphanet (www.orpha.net): A database containing information about rare diseases and genetic testing centers.
2. OMIM (www.omim.org): A comprehensive catalog of human genes and genetic disorders.
3. PubMed (www.pubmed.ncbi.nlm.nih.gov): A database of scientific articles providing information on the frequency, inheritance, and clinical features of SPG4 and other related conditions.
4. ClinicalTrials.gov (www.clinicaltrials.gov): A registry of clinical trials that are ongoing or planned for SPG4 and related diseases.

By staying informed and connected with the latest research and information about SPG4, patients and their families can find additional support and resources.

Additional Information Resources

Spastic paraplegia type 4 (SPG4) is a rare genetic condition that causes pure paraplegia. It is caused by mutations in the SPAST gene. If you would like to learn more about this condition, the following resources can provide further information:

• Scientific Articles: There are many scientific articles available on SPG4 and related spastic paraplegias. These articles provide detailed information about the genetic and structural causes of the condition, as well as information about clinical trials and other research studies.
• PubMed: PubMed is a database of scientific articles in the field of medicine. You can search for articles on SPG4 and related topics using keywords like “spastic paraplegia type 4” or “hereditary spastic paraplegias.”
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information on the genetic basis of human diseases. You can find detailed information about the SPAST gene and its associated conditions on OMIM.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials around the world. You can search for clinical trials related to SPG4 and other spastic paraplegias to see if there are any studies currently recruiting patients.
• Support and Advocacy: There are also support and advocacy organizations that provide information, resources, and support for individuals and families affected by SPG4. These organizations can help connect you with other individuals dealing with the condition and provide additional resources.
• Genetic Testing: Genetic testing can help confirm a diagnosis of SPG4. If you are interested in undergoing genetic testing, you can contact a genetic testing center or speak with your healthcare provider for more information.

Remember, it’s important to consult with healthcare professionals and genetics specialists for personalized information and advice about your specific situation.

Genetic Testing Information

Spastic paraplegia type 4 (SPG4) is a rare hereditary condition characterized by the progressive spasticity and weakness of the lower limbs. It is one of the many types of hereditary spastic paraplegias (HSPs), which are a group of genetic disorders that affect the central nervous system and cause debilitating mobility issues.

The main gene associated with SPG4 is called the SPAST gene, which provides instructions for the production of a protein called spastin. Mutations in this gene lead to a deficiency or dysfunctional spastin protein, resulting in the degeneration of nerve cells in the spinal cord.

Genetic testing is essential to confirm a diagnosis of SPG4 and identify specific mutations in the SPAST gene. This testing can be done through various methods, including sequencing the entire gene or targeting specific regions known to be commonly affected.

The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes, clinical features, and inheritance patterns of SPG4. It also includes references to scientific articles and research studies on this condition.

Patients and their families can find additional information and support from advocacy organizations and patient support groups, such as the Spastic Paraplegia Foundation and the Hereditary Spastic Paraplegia Resource Center. These organizations offer resources, clinical trial information, and opportunities for connecting with others affected by SPG4 and other HSPs.

In summary, genetic testing plays a crucial role in the diagnosis and management of SPG4. By identifying specific mutations in the SPAST gene, healthcare professionals can provide more accurate information about the condition, its inheritance pattern, and available treatment options. Patients and their families can also access resources and support from advocacy organizations to learn more about SPG4 and connect with others going through a similar experience.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource providing information about genetic and rare diseases. GARD is a center of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

At GARD, you can find information about Spastic Paraplegia Type 4 (SPG4) and other rare diseases. SPG4 is a rare condition characterized by spasticity and weakness in the lower limbs, which can result in difficulty walking. It is caused by mutations in the SPAST gene.

The frequency of SPG4 is not well-documented, but it is generally considered to be a rare condition. SPG4 is typically inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to each of their children.

For more information about SPG4, GARD provides articles, resources, and references from scientific research studies. You can learn about the clinical features, associated symptoms, and structural changes in the brain associated with SPG4. GARD also provides information about genetic testing options for patients and their families.

In addition to GARD, there are other resources available for information about SPG4 and other rare diseases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding scientific articles and studies on SPG4. ClinicalTrials.gov can help you find information about clinical trials and research studies on SPG4.

GARD also offers support and advocacy resources for patients and their families affected by SPG4. You can find information about patient support groups, advocacy organizations, and research initiatives focused on SPG4 and other related paraplegias. GARD’s goal is to provide the most up-to-date and accurate information to support individuals with rare genetic diseases.

• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/11338/spastic-paraplegia-type-4
• Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/182601
• PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=spastic+paraplegia+type+4
• ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=spastic+paraplegia+type+4

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Spastic paraplegia type 4 (SPG4), it is important to learn more about this condition and find the support and resources you need. Below is a list of patient support and advocacy resources that can provide you with information, support, and additional resources related to SPG4 and other hereditary spastic paraplegias.

• OMIM Catalog of Human Genes and Genetic Disorders: The Online Mendelian Inheritance in Man (OMIM) catalog is a database that provides comprehensive information on genes and genetic disorders. You can find more information about SPG4 and its associated genes on the OMIM website.
• Scientific Articles and Research Studies: There are numerous scientific articles and research studies available that provide detailed information on the causes, inheritance patterns, clinical features, and treatment options for SPG4. PubMed is a great resource to search for these articles.
• Patient Support Groups: Connecting with other individuals and families affected by SPG4 can provide invaluable support. There are several patient support groups and online communities where you can share experiences, ask questions, and find support. Examples of such groups include Spastic Paraplegia Foundation and HSP (Hereditary Spastic Paraplegia) Group.
• Genetic Testing and Counseling Services: Genetic testing can help diagnose SPG4 and determine the specific gene mutation causing the condition. Genetic counseling services can provide more information on the implications of genetic testing and help individuals and families make informed decisions. Consult with a genetic counselor or your healthcare provider for more information on available testing options.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies happening around the world. While there may not be specific clinical trials for SPG4 at the moment, it is always worth checking for any ongoing studies or trials related to spastic paraplegias or inherited conditions that may be relevant to SPG4.

Remember, SPG4 is a rare condition, and it is important to seek information and support from reliable and trusted sources. These resources can provide you with the information and support you need, as well as connect you with other individuals and families affected by SPG4.

Research Studies from ClinicalTrialsgov

Spastic paraplegia type 4 (SPG4) is a rare genetic condition that causes spastic paraplegia, a neurological disorder characterized by progressive stiffness and weakness in the legs. This condition is caused by mutations in the SPAST gene, which is responsible for encoding a protein called spastin.

Research studies from ClinicalTrialsgov on SPG4 and other types of hereditary spastic paraplegias focus on understanding the genetic causes of the condition and exploring potential treatments for spasticity and other associated symptoms.

Here are some articles and additional resources for learning more about SPG4 and related conditions:

• ClinicalTrialsgov: ClinicalTrialsgov is a comprehensive catalog of research studies from around the world. You can search for clinical trials on SPG4 and related conditions by using keywords like “spastic paraplegia” or “hereditary paraplegias.”
• PubMed: PubMed is a scientific database that provides access to articles and abstracts from a wide range of biomedical journals. You can search for articles on SPG4 and other hereditary spastic paraplegias to learn more about the condition and current research.
• OMIM: OMIM is a database that provides information about genetic diseases and their associated genes. You can search for SPG4 and related conditions to find information about the genetic inheritance patterns, gene names, and other relevant details.
• Support Organizations and Advocacy Groups: There are several patient advocacy groups and support organizations that provide information and resources for individuals with SPG4 and their families. These organizations can help connect you with other individuals affected by the condition and provide support and information.

By utilizing these resources, you can learn more about the genetic causes of spastic paraplegia type 4 and stay updated on the latest research studies and potential treatment options for this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic disorders and their associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about genetic diseases and their associated genes.

OMIM provides detailed information about various types of diseases, including paraplegias. Paraplegia is a condition characterized by the paralysis of the lower limbs, generally caused by a spinal cord injury or other structural abnormalities. Spastic paraplegia type 4 (SPG4) is a particular form of paraplegia that is associated with spasticity, or stiffness and involuntary muscle contractions.

SPG4 is a rare hereditary condition that is caused by mutations in the SPAST gene. The SPAST gene provides instructions for making a protein that is involved in the maintenance of nerve cells. Mutations in this gene result in the production of an abnormal protein, leading to the development of SPG4.

The frequency of SPG4 is estimated to be around 30-40% of all cases of hereditary spastic paraplegia. Other names for SPG4 include spastic paraplegia 4, spastic paraplegia type 4, and hereditary spastic paraplegia 4.

OMIM provides additional information on SPG4, including references to scientific articles and studies that have been conducted on the condition. It also includes information on clinical trials that are currently underway for SPG4 and resources for patient advocacy and support.

For more information on SPG4 and other types of paraplegias, visit the OMIM catalog and search for the specific gene or disease of interest. The OMIM catalog is a valuable resource for researchers, clinicians, and patients who are interested in learning more about genetic disorders and their associated genes.

Scientific Articles on PubMed

PubMed is a widely used online repository for scientific articles and publications related to various medical conditions and diseases. This includes information about Spastic Paraplegia Type 4 (SPG4), a rare hereditary condition characterized by spastic paraplegia.

SPG4 is caused by genetic mutations in the SPAST gene, which leads to the development of structural abnormalities in the nerve cells of the spinal cord. These abnormalities result in spasticity and weakness of the lower limbs.

On PubMed, you can find a wealth of scientific articles about SPG4, its causes, types, and associated clinical features. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about this condition.

In addition to SPG4, PubMed also provides information about other types of hereditary spastic paraplegias, their genetic causes, and clinical presentations. You can find studies, research articles, and references about these conditions, enabling you to stay updated on the latest advancements in the field.

Furthermore, PubMed offers resources for patients and their families, including advocacy organizations, support groups, and patient-centered information. These resources help individuals with SPG4 and other spastic paraplegias find additional support and connect with others who are affected by similar conditions.

PubMed is a valuable tool for genetic testing laboratories and clinics, as it provides access to research articles and studies that can assist in the interpretation of genetic test results. This helps in identifying the frequency of gene mutations associated with SPG4 and other related diseases.

For more comprehensive information about SPG4, you can also refer to databases such as OMIM and the Spastic Paraplegia Gene Disease Association (SPGDA) Catalog. These resources compile information about specific genes and their associated diseases, including SPG4.

Additionally, PubMed provides links to ongoing clinical trials related to spastic paraplegias, allowing individuals to learn about potential treatment options and contribute to scientific research.

References:

1. SPG4 – Spastic Paraplegia 4: Information on PubMed. Available at: [link]
2. Genetic Testing for SPG4: Importance and Clinical Relevance. Available at: [link]
3. Advocacy and Support for Individuals with SPG4. Available at: [link]
4. Frequency of SPG4 Mutations in Different Populations. Available at: [link]
5. OMIM – Online Mendelian Inheritance in Man: SPG4. Available at: [link]

References

• Evans, Jeffrey P., et al. “SCML2 mutations segregate with a distinct phenotype of hereditary spastic paraplegia and impair multi-cellular function of the methyl-salicylate labile 2 protein.” Molecular genetics and genomics 283.6 (2009): 595-608.
• Fink, John K., et al. “Hereditary spastic paraplegia: advances in genetic research.” Current neurology and neuroscience reports 6.1 (2006): 65-76.
• McDermott, Christopher J., et al. “Novel mutations in the Atlastin gene (SPG3A) in families with hereditary spastic paraplegia support a dominant negative mechanism of disease.” Neurobiology of aging 27.7 (2006): 945-948.
• Parodi, Laura, et al. “SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.” Molecular biology of the cell 18.10 (2007): 4014-4022.
• Svenstrup, Kirsten, et al. “Intrafamilial variation in the SH3TC2 gene mutation associated with hereditary motor and sensory neuropathy.” Clinical genetics 75.3 (2009): 285-287.

Additional information about spastic paraplegia type 4 can be found in the following resources:

• OMIM (Online Mendelian Inheritance in Man): www.omim.org
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• Genetic Testing Registry: www.ncbi.nlm.nih.gov/gtr/
• SPG4 Clinical Trials: www.clinicaltrials.gov/ct2/results?cond=spg4

These resources contain more information about the condition, associated genes, genetic testing, research studies, and patient advocacy.