Spastic paraplegia type 3A (SPG3A) is a rare genetic condition characterized by progressive weakness and spasticity in the lower limbs. It is caused by mutations in the ATL1 gene, which is responsible for the production of a protein called atlastin-1. This protein plays a key role in maintaining the structure and function of nerve cells in the spinal cord.

People with SPG3A typically develop symptoms in childhood or adolescence, although the age of onset and severity can vary. Common symptoms include difficulty walking, muscle stiffness, and muscle weakness in the legs. In some cases, the condition may also affect the upper limbs or other parts of the body.

While SPG3A is a rare condition, it has been the subject of extensive research. Various studies have investigated the genetic causes of SPG3A, as well as potential treatments and management strategies. The National Institute of Neurological Disorders and Stroke (NINDS) has developed a comprehensive resource on spastic paraplegias, including information on SPG3A and other types of the condition.

Additional information, resources, and support can be found through organizations such as the Spastic Paraplegia Foundation and clinicaltrials.gov, where ongoing clinical trials and research studies related to SPG3A may be listed. Patients, family members, and caregivers can also find additional references and scientific articles related to SPG3A through resources like OMIM and PubMed.

Frequency

The frequency of Spastic paraplegia type 3A (SPG3A) is currently unknown. SPG3A is a rare condition that belongs to a group of hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness and weakness in the legs.

The exact prevalence of SPG3A is difficult to estimate due to its rarity and the lack of a central catalog or registry for collecting patient data. However, studies suggest that SPG3A may account for a small percentage of all HSP cases.

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SPG3A is associated with mutations in the ATL1 gene, which is involved in the transport of proteins within nerve cells. Mutations in this gene disrupt the normal functioning of nerve cells, leading to the characteristic symptoms of SPG3A.

More research is needed to learn about the frequency and inheritance patterns of SPG3A. Genetic testing can help confirm a diagnosis of SPG3A and identify mutations in the ATL1 gene. ClinicalTrials.gov and PubMed are valuable resources for finding information on ongoing research studies and scientific articles about SPG3A.

It’s important for patients with SPG3A and their families to seek support from advocacy groups and patient organizations that specialize in rare diseases, such as the Spastic Paraplegia Foundation. These organizations can provide valuable resources, support, and information on clinical trials and other available treatment options.

References:

• Auer-Grumbach, M. (2013). Hereditary Spastic Paraplegias: The Current Status. The Neurologist, 19(1), 1–13.
• OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
• PubMed – NCBI. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
• Spastic Paraplegia Foundation. (n.d.). Retrieved from https://sp-foundation.org/

Causes

Spastic paraplegia type 3A (SPG3A) is a rare genetic condition characterized by progressive muscle stiffness and weakness in the lower limbs. The main symptom of SPG3A is spasticity, which refers to a tightness and stiffness in the muscles that can affect the ability to move and walk.

SPG3A is caused by mutations in the atlastin-1 gene (ATL1). This gene provides instructions for making a protein that is involved in the development and maintenance of nerve cells. Mutations in the ATL1 gene lead to the production of a mutated protein that disrupts the normal functioning of nerve cells, particularly those that control muscle movement. This disruption in nerve cell function results in the spasticity and weakness seen in SPG3A.

SPG3A is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing on the condition to each of their children. However, not all individuals with a mutation in the ATL1 gene will develop SPG3A. The severity of symptoms can vary widely, even among members of the same family who have the same mutation.

In addition to SPG3A, there are several other types of hereditary spastic paraplegias (HSPs) caused by mutations in different genes. These types include SPG4, SPG7, and SPG31, among others. Each type of HSP is caused by mutations in a specific gene, resulting in similar symptoms of spasticity and weakness in the lower limbs.

Diagnosis of SPG3A is typically made based on a combination of clinical evaluation, family history, and genetic testing. Genetic testing can identify mutations in the ATL1 gene, confirming the diagnosis. Additional testing may also be done to rule out other causes of spastic paraplegia, such as other genetic disorders or acquired conditions.

There is currently no cure for SPG3A, but treatment focuses on managing the symptoms and improving quality of life for affected individuals. This may include physical therapy, assistive devices for mobility, and medications to help reduce spasticity. Research is ongoing to better understand the underlying causes of SPG3A and to develop more effective treatments.

For more information about SPG3A and other hereditary spastic paraplegias, resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center provide additional information and scientific studies on the condition. Advocacy groups and clinical trial databases, such as ClinicalTrials.gov, may also have information on ongoing research and support for patients and their families.

Learn more about the gene associated with Spastic paraplegia type 3A

Spastic paraplegia type 3A is a rare genetic condition characterized by spasticity and weakness in the lower limbs. The condition is caused by mutations in the gene known as Auer-Grumbach, which is also associated with other types of hereditary spastic paraplegias and neuropathy.

Spastic paraplegia type 3A is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent in order to develop the condition.

Clinical studies and genetic testing have identified several mutations in the Auer-Grumbach gene that are associated with spastic paraplegias. These mutations disrupt the normal function of the gene, leading to impaired transmission of impulses along the spinal cord.

There are several resources available for patients and their families to learn more about this condition. The Spastic Paraplegia Foundation provides support, advocacy, and information about spastic paraplegias and related diseases. The foundation’s website offers articles, information on clinical trials, and additional resources for those affected by this condition.

Pure and some additional scientific information on the Auer-Grumbach gene and its association with spastic paraplegia type 3A can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM catalog is a comprehensive resource that provides information on the genetic basis of human diseases.

References to scientific studies and articles on spastic paraplegia type 3A can be found on PubMed, a searchable database of scientific literature. PubMed includes studies on the inheritance, clinical features, and genetic testing for this condition.

1. Spastic Paraplegia Foundation: https://sp-foundation.org/
2. Online Mendelian Inheritance in Man: https://omim.org/
3. PubMed: https://pubmed.ncbi.nlm.nih.gov/

By learning more about the Auer-Grumbach gene and its association with spastic paraplegia type 3A, patients and their families can gain a better understanding of this condition and access the necessary resources and support for managing the symptoms and seeking appropriate medical care.

Inheritance

Spastic paraplegia type 3A (SPG3A) is a rare genetic condition that affects the spinal cord and causes spasticity in the lower limbs. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

The exact gene associated with SPG3A is called the atlastin-1 gene, which is located on chromosome 14. Mutations within this gene are known to cause the condition. Studies have also identified other genes that can cause spastic paraplegias and are associated with pure hereditary spastic paraplegia (HSP). The frequency of SPG3A is not well documented, but it is considered a rare form of HSP.

Gene and Inheritance:

• Gene: ATL1
• Condition: Spastic paraplegia type 3A
• Inheritance: Autosomal dominant

There is currently no cure for SPG3A, but there are treatment options available to manage symptoms. These may include physical therapy, medications to reduce spasticity, and adaptive devices to aid mobility. Research is ongoing to better understand the underlying causes of SPG3A and develop potential therapeutic interventions.

References:

1. Auer-Grumbach, M. (2008). Hereditary spastic paraplegias: molecular genetics to pathophysiology. Journal of Neurology, Neurosurgery & Psychiatry, 79(4), 377-383.
2. OMIM: Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
3. SPG3A. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition
4. ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/

PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Resource for research articles: https://www.researchgate.net/

Spastic Paraplegia Foundation. (n.d.). Retrieved from https://sp-foundation.org/

Other Names for This Condition

Spastic paraplegia type 3A is a rare genetic condition that falls under the group of hereditary spastic paraplegias (HSPs). It is also known by other names such as:

• Auer-Grumbach disease
• HSP type 3A
• Spastic paraplegia 3A

Spastic paraplegia type 3A is characterized by the progressive stiffness and weakness (spasticity) of the legs. It is caused by mutations in the KIF1A gene, which is responsible for maintaining normal function of nerve cells. When this gene is mutated, it affects the ability of nerve cells to transmit impulses, leading to the development of spasticity.

Patients with spastic paraplegia type 3A may also experience additional symptoms such as neuropathy (nerve damage) and muscle wasting. The condition can vary in severity, with some individuals being able to walk with the aid of assistance devices while others may require a wheelchair for mobility.

There is currently no cure for spastic paraplegia type 3A. Treatment focuses on managing symptoms and providing support to improve quality of life for affected individuals. Clinical trials and genetic testing may offer additional information and potential treatment options. Support and advocacy groups, such as the Spastic Paraplegia Foundation, provide resources and information for patients and families affected by this condition.

To learn more about spastic paraplegia type 3A, you can refer to scientific articles and publications available on PubMed, OMIM, and other reputable sources. These sources provide detailed information about the condition, its inheritance patterns, associated genes, and ongoing research studies.

References:

1. Auer-Grumbach, M. (2008). Hereditary Spastic Paraplegias: Clinical, Genetic, and Pathophysiological Aspects. The Neuroscientist, 14(1), 24-34.
2. Genetics Home Reference. (n.d.). KIF1A gene. Retrieved from https://ghr.nlm.nih.gov/gene/KIF1A
3. OMIM. (n.d.). SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT; SPG3A. Retrieved from https://omim.org/entry/182600
4. Spastic Paraplegia Foundation. (n.d.). About HSP. Retrieved from https://sp-foundation.org/whatis/

Additional Information Resources

Spastic paraplegia type 3A is a rare genetic condition that causes spastic paraplegia, a group of inherited diseases characterized by progressive weakness and spasticity in the lower limbs. This condition is caused by mutations in the gene ATP13A2.

If you are interested in learning more about spastic paraplegia type 3A and related conditions, the following resources may be helpful:

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of human diseases. You can find detailed information about spastic paraplegias and associated genes on OMIM.
2. PubMed: Pubmed is a database of scientific articles and research studies. By searching for keywords such as “spastic paraplegia type 3A” or “ATP13A2 gene”, you can find relevant studies and articles about this condition.
3. Auer-Grumbach Neuromuscular Research Center: This research center focuses on studying and understanding various types of hereditary neuropathies, including spastic paraplegias. Their website provides valuable information and resources for patients and researchers interested in these conditions.
4. Genetic Testing: If you or someone you know is affected by spastic paraplegia type 3A, genetic testing can provide more information about the specific gene mutation causing the condition. Genetic testing can be conducted by specialized laboratories and medical professionals.
5. Support and Advocacy Groups: There are several support and advocacy groups that provide resources, support, and community for individuals and families affected by spastic paraplegia and related conditions. These groups can provide valuable information, connect you with other individuals affected by the condition, and offer support in navigating the challenges of living with spasticity.

It is important to note that the information provided here is not exhaustive, and there may be additional resources available. Consulting with healthcare professionals and experts in the field is always recommended for accurate and up-to-date information.

Genetic Testing Information

Spastic paraplegia type 3A is a rare genetic condition that affects the spinal cord and causes spasticity in the lower limbs. It is caused by mutations in the gene Auer-Grumbach syndrome gene (AUR). Spastic paraplegia type 3A follows an autosomal dominant pattern of inheritance, meaning that individuals who inherit one copy of the mutated gene from an affected parent have a 50% chance of developing the condition.

Genetic testing can be used to confirm a diagnosis of spastic paraplegia type 3A. There are several genetic testing centers that specialize in testing for this condition. These centers can provide further information about the testing process, including the types of tests available and the frequency of mutations in the AUR gene.

There are also resources available for patients and their families to learn more about spastic paraplegia type 3A. Advocacy groups and support centers can provide additional information, support, and resources for individuals affected by this condition. Some of these resources include research articles, scientific studies, and clinical trials that are currently being conducted.

References to scientific studies and clinical trials can be found in resources such as PubMed, ClinicalTrials.gov, and OMIM. These resources provide detailed information about the associated genes, symptoms, causes, and treatment options for spastic paraplegia type 3A, as well as other spastic paraplegias and related diseases.

Genetic and Rare Diseases Information Center

Spastic paraplegia type 3A (SPG3A) is a rare genetic condition characterized by spastic paraplegias, pure spasticity, and occasionally additional symptoms such as neuropathy or ataxia. The condition is associated with alterations in the ATP-binding cassette subfamily A member 2 (ABCA2) gene, which plays a role in the transport of various molecules within cells.

SPG3A is typically inherited in an autosomal dominant manner, meaning that a mutation in only one copy of the ABCA2 gene is sufficient to cause the condition. However, in some cases, it may also be inherited in an autosomal recessive manner.

Symptoms of SPG3A can vary widely between affected individuals, even within the same family. The most common symptom is spasticity, which is an abnormal increase in muscle tone that can lead to stiffness and difficulty with movement. Other symptoms may include weakness, muscle wasting, pain, difficulty with coordination, and sensory abnormalities.

Diagnosis of SPG3A is typically based on the presence of characteristic symptoms, clinical evaluation, and genetic testing to identify a mutation in the ABCA2 gene. Additional testing, such as neuroimaging studies or nerve conduction studies, may be used to assess the extent of spinal cord or nerve involvement.

Treatment for SPG3A is focused on managing symptoms and providing support for affected individuals. This may include physical therapy, medication to reduce spasticity, and assistive devices or mobility aids to improve mobility and independence.

For more information about SPG3A and other types of hereditary spastic paraplegia, the following resources may be helpful:

• Genetic and Rare Diseases Information Center: Provides information and resources about SPG3A and other rare diseases.
• OMIM: Online Mendelian Inheritance in Man catalog of human genes and genetic disorders.
• PubMed: A database of scientific articles and research studies on SPG3A and related conditions.
• ClinicalTrials.gov: A database of clinical trials investigating new treatments for SPG3A.
• Advocacy groups: Organizations that provide support and advocacy for individuals and families affected by SPG3A and other rare diseases.

Overall, SPG3A is a rare genetic condition characterized by spastic paraplegias and pure spasticity, often associated with mutations in the ABCA2 gene. While there is currently no cure for SPG3A, ongoing research and clinical trials offer hope for improved understanding and treatment of this condition.

Patient Support and Advocacy Resources

There are various patient support and advocacy resources available for individuals and families affected by Spastic Paraplegia Type 3A (SPG3A).

Gene Reviews

• Gene Reviews is a comprehensive resource that provides information about genetic diseases and related genes. It offers up-to-date information on SPG3A, including its clinical features, inheritance patterns, and genetic testing options.
• Gene Reviews is an excellent source for individuals who want to learn more about the condition and its genetic causes.

OMIM

• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and their associated genes.
• OMIM provides a wealth of scientific articles and studies related to SPG3A, as well as references to additional resources for further reading.

Scientific Research Studies

• Scientific research studies, available on PubMed, explore various aspects of SPG3A, including its clinical presentation, causes, and potential treatment options.
• These studies can provide valuable insights into the condition for both patients and healthcare professionals.

Patient Support Groups

• There are several patient support groups dedicated to providing information and support to individuals and families affected by SPG3A.
• These support groups aim to connect individuals who share similar experiences and provide a platform for sharing information, resources, and personal stories.

ClinicalTrials.gov

• ClinicalTrials.gov is a comprehensive database of clinical studies and trials, including those related to SPG3A.
• By searching on ClinicalTrials.gov, individuals can find information about ongoing and upcoming clinical trials for potential treatments or interventions.

Additional Resources

• There are additional resources available for individuals seeking support and information about SPG3A, including the Auer-Grumbach Spastic Paraplegia Center and the Spastic Paraplegia Foundation.
• These organizations offer a wealth of information, support, and resources for individuals affected by SPG3A and other related conditions.

Overall, these patient support and advocacy resources can provide valuable information and support to individuals and families affected by SPG3A. They offer a range of educational materials, research articles, support groups, and potential avenues for clinical trials and treatment options.

Research Studies from ClinicalTrials.gov

The research studies carried out by the ClinicalTrials.gov group are aimed at understanding and finding treatment options for various medical conditions, including spastic paraplegia type 3A (SPG3A). These studies are conducted in collaboration with scientific and clinical experts from different centers around the world.

Spastic paraplegia type 3A is a rare neurological condition associated with the Auer-Grumbach syndrome. It is a pure neuropathy and causes spasticity and weakness in the lower limbs. The condition is caused by mutations in the SPG3A gene.

The research studies on SPG3A conducted by ClinicalTrials.gov focus on the genetic and clinical aspects of the condition. The frequency of SPG3A and other associated genes and types of paraplegias are studied to learn more about the inheritance patterns and causes of the disease.

ClinicalTrials.gov supports research by providing resources and information about ongoing studies, patient advocacy groups, and additional references and articles related to SPG3A. The studies published in PubMed and the OMIM catalog are also referenced to support the scientific findings.

Through these research studies, the ClinicalTrials.gov group aims to learn more about spastic paraplegia type 3A and provide valuable information for genetic testing, diagnosis, and treatment options for patients with this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for information about genes and diseases. It provides a wealth of knowledge about various genetic conditions, including neuropathy and spastic paraplegia type 3A.

Spastic paraplegia type 3A is a rare genetic condition characterized by progressive spasticity and weakness in the lower limbs. It is associated with mutations in the gene Auer-Grumbach (OMIM: 609304).

Patients with spastic paraplegia type 3A typically present with pure spastic paraplegia, with no associated neuropathy. The condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutation on to their children.

OMIM provides a comprehensive list of genes associated with spastic paraplegias, including type 3A. This catalog of genes is a valuable resource for researchers, clinicians, and advocacy groups seeking to learn more about the genetic causes of this condition. It also includes references to scientific articles and other resources for further reading.

Additional information about clinical trials and genetic testing for spastic paraplegia type 3A can be found on clinicaltrials.gov and PubMed.

Overall, the Catalog of Genes and Diseases from OMIM is an invaluable tool for anyone interested in learning more about genetic conditions, including spastic paraplegias. It provides a wealth of information and support for patients, researchers, and healthcare professionals.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Spastic paraplegia type 3A, also known as Auer-Grumbach syndrome. This rare genetic condition is characterized by progressive weakness and spasticity in the legs, and is caused by mutations in the KIF1A gene.

By searching PubMed, you can find a wealth of information about this condition, including research studies, clinical trials, and other resources to support patients and their families.

Some of the scientific articles available on PubMed provide information on the frequency of Spastic paraplegia type 3A, the inheritance pattern, and the clinical features associated with this condition.

The OMIM catalog is another valuable resource for learning more about Spastic paraplegia type 3A. The catalog provides detailed information about the KIF1A gene, including its associated clinical features and the types of mutations that can cause this condition.

In addition to PubMed and OMIM, there are other resources available to support patients with Spastic paraplegia type 3A. These include advocacy groups, research centers, and genetic testing centers that specialize in rare diseases.

Overall, by exploring the scientific articles and resources available on PubMed, you can gain a deeper understanding of the causes, types, and additional information about Spastic paraplegia type 3A and related genetic conditions.

References

• Harding AE. Hereditary “pure” spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981 Jun;44(6):871-83. PubMed PMID: 7025346; PubMed Central PMCID: PMC490124.
• Fink JK. Hereditary spastic paraplegia. Neurology. 2003 May 13;60(9):1385-90. Review. PubMed PMID: 12743228.
• Auer-Grumbach M. Hereditary sensory neuropathy type I. Orphanet J Rare Dis. 2008 Jan 31;3:7. doi: 10.1186/1750-1172-3-7. Review. PubMed PMID: 18237399; PubMed Central PMCID: PMC2276203.
• Parodi L, Garone C, Coarelli G, Serretti A, Conigliaro D, Biasiotta A, Biscoglio M, Taglia A, Santorelli FM, Pittis MG, Mariotti C. Hereditary spastic paraplegia: clinical-genetic study of 15 families. Neurol Sci. 2015 Feb;36(2):227-33. doi: 10.1007/s10072-014-1940-y. Epub 2014 Aug 10. PubMed PMID: 25107502.
• OMIM (Online Mendelian Inheritance in Man). Spastic paraplegia 3A, autosomal dominant; SPG3A. Johns Hopkins University; c2020 [cited 2021 Apr 20]. Available from: https://www.omim.org/entry/182600.
• Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005 May;57(5):415-24. PubMed PMID: 15852395.
• Achilli F, Bros-Facer V, Williams H, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Dis Model Mech. 2009 Sep-Oct;2(9-10):359-73. doi: 10.1242/dmm.001345. PubMed PMID: 19692592; PubMed Central PMCID: PMC2739131.