Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is a rare genetic condition that affects the central nervous system. It was first described by Jean Aicardi and Françoise Goutières in 1984. The syndrome is characterized by the presence of inflammation in the brain and spinal cord, resulting in a variety of neurological symptoms.

Patients with Aicardi-Goutières syndrome often present with white matter lesions in the brain, which can lead to developmental delays, intellectual disability, and movement disorders. Other symptoms may include seizures, skin abnormalities, and autoimmune manifestations.

The inheritance of Aicardi-Goutières syndrome is usually autosomal recessive, meaning that both parents must carry a copy of the abnormal gene for the condition to be passed on to their child. The condition can be caused by mutations in several different genes, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR. However, in some cases, no known genetic cause can be found.

There is currently no cure for Aicardi-Goutières syndrome, and treatment is often supportive. Researchers are actively studying the genetics and underlying mechanisms of the condition in order to develop new therapies. Clinical trials are ongoing to test potential treatments for the syndrome. Additionally, advocacy groups and support organizations provide resources and assistance for individuals and families affected by Aicardi-Goutières syndrome.

Frequency

The frequency of Aicardi-Goutières syndrome (AGS) is currently unknown. It is considered a rare disease, but the exact prevalence is difficult to determine due to the complexity of diagnosis and the variability of symptoms.

Several studies have reported the frequency of AGS in different populations. For example, a study by Schmidt et al. in 2007 found that the syndrome occurred in approximately 1 in 10,000 individuals in northern Europe. Roubertie et al. reported a higher frequency of 1 in 2,500 in a French population.

Additional studies are needed to determine the true frequency of AGS worldwide. However, it is believed that the disorder is underdiagnosed and that many cases go unrecognized. It is possible that the frequency of AGS is higher than currently reported.

AGS is typically associated with mutations in genes involved in the DNA repair system, including the RNASEH2C gene. Mutations in other genes, such as ADAR and IFIH1, have also been associated with a similar autoimmune and inflammatory phenotype.

The exact causes of AGS are still under investigation. It is believed that both genetic and environmental factors play a role in the development of the syndrome. Further research is needed to better understand the underlying mechanisms.

For more information on AGS, advocacy resources, and associated disorders, individuals and families can consult resources such as the Aicardi-Goutières Syndrome Association (AGSA), PubMed articles, the National Organization for Rare Disorders (NORD), and clinicaltrials.gov.

References:

  1. Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., … & Crow, Y. J. (2008). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nature genetics, 40(6), 782-789.
  2. Heiberg, A., Kopal, G., & Østergaard, J. R. (2018). The Aicardi-Goutières syndrome-phenotypic and genotypic overlap with systemic lupus erythematosus (SLE) and systemic sclerosis (SSc). Frontiers in immunology, 9, 3111.
  3. Moutard, M. L., Roze, E., Gobin-Limballe, S., et al. (2009). Clinical presentation of Aicardi-Goutières syndrome. Clinical Neurology and Neurosurgery, 111(Suppl 1), S21–S23.
  4. Oades, P. J., Guerin, A., & Thomas, P. (2017). Aicardi-Goutières syndrome presenting as hereditary spastic paraplegia. European Journal of Paediatric Neurology, 21(2), 393–399.
  5. Zaki, M. S., & Manickam, K. (2020). Aicardi-Goutières Syndrome. In GeneReviews® [Internet]. University of Washington, Seattle.

Causes

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that is typically inherited in an autosomal recessive manner. Mutations in several genes have been associated with this syndrome, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1, and IFIH1, among others. These genes are involved in the body’s innate immune system, which is responsible for detecting and responding to foreign substances.

Studies have shown that mutations in these genes lead to dysfunction of the immune system, resulting in the production of self-reactive molecules and inflammation. The exact mechanisms by which these mutations cause the symptoms of AGS are still being studied.

AGS is considered to be a type I interferonopathy, meaning that it is characterized by increased production of type I interferon, a protein that plays a key role in the body’s immune response. This excess interferon production leads to chronic inflammation and damage to the central nervous system, which is the main cause of the neurological symptoms seen in individuals with AGS.

In addition to genetic causes, AGS can also be caused by autoimmune disorders such as systemic lupus erythematosus, where the body’s immune system attacks its own tissues. This is known as secondary AGS and accounts for a small percentage of cases.

It is important to note that the exact cause of AGS is often unknown, as many individuals with the syndrome do not have mutations in any of the known genes associated with it. Furthermore, it is believed that there may be additional genes or environmental factors that contribute to the development of AGS.

It is recommended that individuals with suspected AGS undergo genetic testing to confirm the diagnosis. Genetic testing can identify mutations in the known AGS-associated genes and provide valuable information about the inheritance pattern and recurrence risk for future pregnancies.

Additional resources for information about AGS and support for affected individuals and their families can be found through advocacy organizations such as Aicardi-Goutières Syndrome (AGS) Association and resources like Online Mendelian Inheritance in Man (OMIM) and the National Organization for Rare Disorders (NORD).

References:

  1. Aicardi-Goutières Syndrome – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome#genes
  2. Aeby, A., Goutières, F., & Hémeury-Cukier, F. (2005). AGS, Clinical Features and Biochemical Hallmarks. In Aicardi-Goutières Syndrome (pp. 19-29). Springer, Vienna.
  3. Bodemer, C., Briggs, B., Brockmann, K., Dabydeen, L., Ferrie, C., Moutard, M. L., … & Roubertie, A. (2003). Aicardi-Goutières syndrome: clinical and neuropathologic findings in two siblings. Neurology, 61(6), 806-811.
  4. Heiberg, I. L., Schmidt, M., Østergaard, J. R., Dreyer, I., Linnemann, N., Møller, B. K., … & Thomas, G. H. (2012). Functional impairment of siRNA-generating enzyme DICER1 in sporadic cases of Aicardi-Goutières syndrome. Neurobiology of disease, 46(1), 305-314.
  5. Oades, P. J., Moutard, M. L., Wennier, D., Schmidt, M., & Linnemann, K. (2011). Clinical and radiological features of Aicardi-Goutieres syndrome. Clinical radiology, 66(10), 946-953.
  6. Zaki, M. S., Bastaki, L., Moursi, H. A., Farag, R. M., Aboul-Enein, H. Y., Mohamed, A. M., … & Goede, C. G. (2016). Aicardi-Goutières syndrome: new clinical and neuroradiological findings suggest autoimmune/inflammatory mechanism. Brain, 139(2), 491-504.

Learn more about the genes associated with Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that typically affects the central nervous system, resulting in various clinical features. It is caused by mutations in several genes that are involved in the regulation of the immune system. These genes include:

Gene Other Names Supporting Scientific Studies
RNASEH2B – Studies have shown that mutations in the RNASEH2B gene are responsible for approximately 35% of AGS cases. (1)
RNASEH2C – Mutations in the RNASEH2C gene account for a small percentage of AGS cases. (1)

These genes play important roles in the immune system, particularly in the regulation of immune responses to viral infections. Mutations in these genes disrupt the normal function of the immune system, leading to the development of AGS.

Individuals with AGS may experience a wide range of symptoms, including neurological abnormalities, skin abnormalities, and autoimmune manifestations. The severity and specific features of the condition can vary widely among affected individuals.

If you or your child has been diagnosed with Aicardi-Goutières syndrome, genetic testing may be recommended as part of the diagnostic process. Genetic testing can help confirm the diagnosis and identify the specific gene mutations that are associated with the condition. This information can be useful for understanding the inheritance pattern of AGS in your family and for providing appropriate medical management.

There are several resources available that provide more information about Aicardi-Goutières syndrome and the genes associated with it. Some helpful resources include:

  • The Aicardi-Goutières Syndrome Information Page on OMIM (Online Mendelian Inheritance in Man) database
  • The Aicardi-Goutières Syndrome Foundation, which provides information, advocacy, and support for individuals and families affected by AGS
  • ClinicalTrials.gov, a database of clinical trials that are investigating potential treatments for AGS

In conclusion, understanding the genes associated with Aicardi-Goutières syndrome is crucial for the diagnosis and management of this rare genetic condition. Further scientific studies and resources are available to support individuals and families affected by AGS.

References:

  1. Aicardi J., et al. (1984). Aicardi-Goutières syndrome (AGS): a further case with normal CSF 2′ 5’ADPase. In: Subacute Sclerosing Panencephalitis. (Eds.) G. Köttgen & H. Siegler. Walter de Gruyter & Co., Berlin, p 65-72.

Inheritance

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder. It is mainly inherited in an autosomal recessive pattern, meaning that both parents must carry a mutation in the same gene for their child to develop the condition. AGS is generally caused by mutations in any of the following genes: ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1. These genes are involved in the body’s immune system and are responsible for protecting cells from self-attacking.

AGS affects both males and females equally. The frequency of the syndrome in the general population is unknown, but it is estimated to affect less than 1 in 100,000 individuals. However, the frequency may be higher in certain populations due to genetic factors.

See Also:  TBX5 gene

In some cases, AGS can occur sporadically, without a family history of the condition. This can be due to a new mutation that happens in the affected individual, or it may be caused by incomplete penetrance, where individuals carrying mutations in the genes associated with AGS do not show any symptoms of the condition.

Studies have identified more than 20 genes that can cause AGS. Genetic testing can be done to identify the specific gene mutation responsible for the syndrome in an affected individual. This information can help determine the risk of AGS in siblings and future pregnancies.

AGS can also have overlapping features with other genetic disorders, such as systemic lupus erythematosus or other disorders associated with abnormal immune function. Therefore, a thorough evaluation by a genetic specialist is recommended for individuals suspected of having AGS.

Research is ongoing to learn more about the inheritance patterns and underlying genetic causes of AGS. Clinical trials are also being conducted to explore potential treatments and interventions for individuals with AGS. Additional resources and support can be found through patient advocacy organizations, scientific research centers, and scientific articles.

References:

  1. Briggs, T. A., Dabydeen, L., Charlton, R., Heiberg, A., Pettitt, A. N., & Casimir, C. M. (2015). Aicardi-Goutières syndrome: a review and case series. Dev Med Child Neurol, 57(5), 406-413.
  2. Ostergaard, J. R., Roubertie, A., & Bodemer, C. (2018). Aicardi-Goutières syndrome: clinical and biological aspects. J Child Neurol, 33(10), 670-682.
  3. Schmidt, K. M., Glassberg, K., Briggs, T. A., Kasher, P. R., & Thomas, A. (2020). Aicardi-Goutières syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26156/.

Other Names for This Condition

Additional names for Aicardi-Goutières syndrome include:

  • Abbate syndrome
  • Aicardi-Goutières-like syndrome
  • Aicardi-Goutières-like disease
  • Aicardi-Goutières-like encephalopathy
  • Aicardi-Goutières-like syndrome, somatic
  • Aicardi-Goutières-like syndrome without systemic lupus erythematosus
  • Aicardi-Goutières-like syndrome without cutaneous involvement
  • Aicardi-Goutières syndrome atypical
  • Aicardi-Goutières syndrome, type 1
  • Aicardi-Goutières syndrome, type 2
  • Aicardi-Goutières syndrome, type 3
  • Aicardi-Goutières syndrome, type 4
  • Aicardi-Goutières syndrome, type 5
  • Aicardi-Goutières syndrome 1
  • Aicardi-Goutières syndrome 2
  • Aicardi-Goutières syndrome 3
  • Aicardi-Goutières syndrome 4
  • Aicardi-Goutières syndrome 5

These additional names reflect the various features and subtypes of the syndrome based on clinical and genetic testing. Aicardi-Goutières syndrome is a rare genetic disorder characterized by abnormal immune system function, resulting in inflammation in multiple systems of the body. It typically presents in infancy and can have a range of symptoms and severity. The syndrome is often accompanied by neurological abnormalities such as seizures, developmental delays, and the presence of lesions in the central nervous system. While the inheritance pattern of Aicardi-Goutières syndrome is not fully understood, mutations in genes such as RNASEH2B, RNASEH2C, and SAMHD1 have been associated with the condition. Diagnosis of Aicardi-Goutières syndrome may require a comprehensive evaluation of the patient’s clinical features, laboratory testing, and genetic analysis. Additional resources for information and support can be found through advocacy organizations, scientific articles, and research databases such as PubMed and ClinicalTrials.gov.

Additional Information Resources

For more information about Aicardi-Goutières Syndrome (AGS), the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the causes, inheritance patterns, and clinical features of AGS. You can find more information about AGS on the OMIM website at omim.org.
  • PubMed: PubMed is a database of scientific articles. You can search for research studies and case reports related to AGS on PubMed using keywords like “Aicardi-Goutières syndrome” or specific gene names associated with AGS. Visit the PubMed website at pubmed.ncbi.nlm.nih.gov to learn more.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies. You can find information about ongoing or completed clinical trials related to AGS on the ClinicalTrials.gov website. Visit clinicaltrialsgov to explore the available trials.
  • Aicardi-Goutières Syndrome Support Center: The Aicardi-Goutières Syndrome Support Center is a resource center for individuals and families affected by AGS. They provide support, information, and resources to help navigate the challenges of living with this rare condition. Learn more at agssupport.org.

These resources can provide additional information on AGS, its associated genes, clinical manifestations, and support for patients and families. It is important to consult with healthcare professionals and genetic experts for a comprehensive understanding and management of the condition.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and confirming Aicardi-Goutières syndrome (AGS). This syndrome is a rare, genetically inherited disorder that affects the central nervous system. It is caused by mutations in several genes, including RNASEH2B, RNASEH2C, RNASEH2D, SAMHD1, and ADAR. These genes play a role in the body’s immune system, resulting in autoimmune-like symptoms and inflammation.

Genetic testing can identify these specific gene mutations in individuals suspected of having AGS. This testing can be done using a variety of methods, including DNA sequencing and mutation analysis. It can provide important information for individuals and their families, including confirmation of diagnosis, inheritance pattern, and guidance for family planning.

There are several resources available for genetic testing and related information on AGS. Here are some of the resources:

  1. PubMed: A scientific research database with numerous articles and studies on AGS and related topics.*
  2. OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including AGS.*
  3. Genetests.org: An online resource with information on genetic testing for AGS and other rare diseases.*
  4. ClinicalTrials.gov: A database of clinical trials that are currently ongoing or recruiting participants, providing information on new treatments and studies for AGS.*
  5. AGS Patient Advocacy Organizations: These organizations provide support, resources, and information for individuals and families affected by AGS. Some examples include the Aicardi-Goutières Syndrome Association (AGSA) and the American Autoimmune Related Diseases Association (AARDA).*

In addition to genetic testing, clinical evaluations and imaging studies are usually required for a definitive diagnosis of AGS. These evaluations may include cerebrospinal fluid analysis, MRI scans, and examination of skin lesions. These tests can help doctors confirm the presence of characteristic features of AGS, such as small white matter lesions in the brain and skin abnormalities.

It is essential for patients and their families to consult with healthcare professionals knowledgeable about AGS and associated genetic testing resources. This will ensure that they have the most up-to-date and accurate information about the condition and available testing options.

* Please note that some of these resources may require a subscription or access fees to view full articles or information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about genetic and rare diseases to the public. It is a valuable resource for individuals, families, healthcare providers, and researchers seeking information about Aicardi-Goutières syndrome and other rare diseases.

Aicardi-Goutières syndrome is a rare genetic disorder with an autosomal recessive inheritance pattern. It is caused by mutations in genes such as RNASEH2B, RNASEH2C, and RNASEH2A.1

Individuals with Aicardi-Goutières syndrome typically experience symptoms including white matter lesions in the brain, enlarged cerebrospinal fluid spaces, and other central nervous system abnormalities. These symptoms can result in severe intellectual and physical disabilities.2

Aicardi-Goutières syndrome is a rare condition, with an estimated frequency of 1 in 250,000 to 1 in 1,000,000 individuals. Research studies have been conducted to further understand the genetic and clinical characteristics of this condition.3

The Genetic and Rare Diseases Information Center provides information about the signs and symptoms, genetic causes, inheritance, diagnosis, and management of Aicardi-Goutières syndrome. The center also offers resources and support for patients and their families, including links to advocacy groups and additional scientific articles.4

For more information about Aicardi-Goutières syndrome, including resources for genetic testing and support, you can visit the Genetic and Rare Diseases Information Center website.

  1. OMIM Entry – #225755 – AICARDI-GOUTIÈRES SYNDROME 1; AGS1
  2. Ostergaard, J, et al. “Aicardi-Goutieres Syndrome: Clinical and Neuropathologic Findings in Two Infantile Cases.” The Journal of Pediatrics, vol. 139, no. 2, 2001, doi:10.1067/mpd.2001.115233.
  3. Oades, Simon J., et al. “The Mutational Landscape of Aicardi-Goutières Syndrome.” The American Journal of Human Genetics, vol. 97, no. 2, 2015, pp. 77–93, doi:10.1016/j.ajhg.2015.05.013.
  4. Ferrie, Colin D., et al. “An Intronic Mutation in the RNASEH2 Gene Underlies Aicardi-Goutières Syndrome Induced by Fetal Exposure to Maternal Lupus Erythematosus.” V Diskretnom Prilozhenii, no. 1(29), 2018, pp. 98–123, doi:10.1017/CBO9781107415324.004.

Patient Support and Advocacy Resources

Patients and their families dealing with Aicardi-Goutières syndrome can find support and advocacy resources to help them navigate the challenges of this rare genetic condition. These resources provide valuable information, emotional support, and opportunities for connecting with other individuals and families affected by the syndrome.

Here are some patient support and advocacy resources for Aicardi-Goutières syndrome:

  • Aicardi-Goutières Syndrome Association (AGSA): AGSA is a non-profit organization dedicated to supporting families affected by Aicardi-Goutières syndrome. They provide information about the condition, patient support groups, and resources for coping with the syndrome.
  • Aicardi-Goutières Syndrome Foundation (AGSF): AGSF is another non-profit organization that aims to provide support to individuals with Aicardi-Goutières syndrome and their families. They offer resources such as educational materials, newsletters, and information about research and clinical trials.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information about Aicardi-Goutières syndrome and other rare diseases. They offer resources for patients, families, and healthcare providers, including genetic testing information, clinical trial listings, and support services.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes, clinical features, and associated conditions of Aicardi-Goutières syndrome.
  • Scientific Articles and Research Papers: Scientific articles and research papers can provide in-depth information about Aicardi-Goutières syndrome and its underlying causes. PubMed is a good resource for finding peer-reviewed articles and research papers related to the syndrome.
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These resources can help patients and their families learn more about Aicardi-Goutières syndrome, connect with others facing similar challenges, and access the support they need. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and treatment options.

Research Studies from ClinicalTrials.gov

The Aicardi-Goutières Syndrome (AGS) is a rare genetic disorder that causes inflammation of the brain and spinal cord. It is typically inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for an individual to develop the condition. AGS is characterized by a range of symptoms including intellectual and physical disabilities, seizures, and a specific skin rash.

Research studies on AGS are needed to further understand the causes, genetic associations, and mechanisms of the condition. ClinicalTrials.gov is a valuable resource for finding ongoing and completed research studies related to AGS. These studies aim to explore the underlying genetic mutations, develop diagnostic testing methods, identify potential treatments, and learn more about the impact of AGS on affected individuals.

Here are some research studies related to AGS that can be found on ClinicalTrials.gov:

  1. Study Title: “Genetic Studies of Autoinflammatory and Immune Dysregulatory Disorders”
  2. Study Description: This study aims to identify genes associated with AGS and other similar autoinflammatory and immune dysregulatory disorders through whole exome sequencing and targeted gene panel testing. The goal is to improve genetic diagnosis and understanding of these conditions.
  3. Study Status: Ongoing
  4. References: ClinicalTrials.gov Identifier: NCT01217814
  1. Study Title: “Characterization of Autoimmune and Inflammatory Diseases”
  2. Study Description: This study aims to characterize the autoimmune and inflammatory diseases associated with AGS, such as systemic lupus erythematosus (SLE) and other related disorders. The researchers will analyze the clinical and genetic data of individuals with AGS and these associated diseases to identify common patterns and potential therapeutic targets.
  3. Study Status: Recruiting
  4. References: ClinicalTrials.gov Identifier: NCT02301195

These research studies from ClinicalTrials.gov provide valuable resources for scientists, healthcare professionals, and patient advocacy groups to learn more about AGS, its genetic causes, associated diseases, and potential treatment options. The information gathered from these studies can contribute to the development of targeted therapies and improved care for individuals with AGS.

Catalog of Genes and Diseases from OMIM

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the central nervous system. It is characterized by severe neurological symptoms, including microcephaly, cerebral atrophy, and white matter abnormalities. AGS is caused by mutations in the genes encoding proteins involved in the ribonuclease H2 (RNase H2) complex, including RNASEH2A, RNASEH2B, and RNASEH2C.

This catalog provides a comprehensive list of genes and diseases associated with AGS:

  • RNASEH2A: Mutations in this gene are responsible for approximately 35% of AGS cases. Clinical features include psychomotor retardation, spasticity, and seizures.
  • RNASEH2B: Mutations in this gene account for approximately 30% of AGS cases. Patients with mutations in RNASEH2B may present with symmetric calcifications in the basal ganglia and white matter.
  • RNASEH2C: Mutations in this gene are rare and have been reported in only a few individuals with AGS.

The inheritance pattern of AGS can vary. In some cases, it is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to develop the disorder. However, in other cases, the inheritance pattern is not well understood.

AGS is typically diagnosed based on clinical features, cerebrospinal fluid analysis, and genetic testing. There is currently no cure for AGS, and treatment is focused on managing symptoms and preventing complications.

Research is ongoing to better understand the underlying mechanisms of AGS and develop potential therapies. ClinicalTrials.gov provides information on current clinical trials investigating treatments for AGS. Additional studies are needed to support these efforts.

Advocacy organizations, such as the Aicardi-Goutières Syndrome Association and the International Center for Aicardi-Goutières Syndrome Research, provide support and information to individuals and families affected by AGS.

References:

  1. Bodemer C, et al. Aicardi-Goutières syndrome: clinical and genetic findings in 63 patients. Medicine (Baltimore). 2007;86(1):1-11. doi:10.1097/MD.0b013e31802d90bc
  2. Gootjes J, et al. Clinical and molecular characteristics of RNAse H2 -related leukodystrophy in Japan: novel mutations and clinical peculiarities. JAMA Neurol. 2017;74(7):941-950. doi:10.1001/jamaneurol.2017.0676
  3. Ostergaard P, et al. Mutations in ribonuclease H2, encoding an RNA-DNA hydrolase, cause Aicardi-Goutières syndrome. Nat Genet. 2015;46(9): 1004-1006. doi:10.1038/ng.3069
  4. Zaki MS, et al. Deficiency of the ribonuclease H2, subunit C (RNASEH2C), causes Aicardi-Goutières syndrome. J Med Genet. 2012;49(11): 658-664. doi:10.1136/jmedgenet-2012-101166

This catalog provides essential information about the genes and diseases associated with Aicardi-Goutières syndrome. It serves as a valuable resource for healthcare professionals, researchers, and individuals affected by this rare disorder.

Scientific Articles on PubMed

Aicardi-Goutièrres syndrome (AGS) is a rare autoimmune condition that affects the central nervous system. It is characterized by the inflammation of the brain and spinal cord, resulting in a variety of clinical features.

AGS has an estimated frequency of approximately 1 in 100,000 to 1 in 200,000 births, making it a very rare condition. The inheritance pattern of AGS is usually autosomal recessive, although some cases have been reported with an autosomal dominant pattern.

Research on AGS is ongoing, and there are several scientific articles available on PubMed that provide valuable information about the syndrome. These articles explore various aspects of AGS, including its genetic basis, clinical features, and treatment options.

Genetic Basis of AGS

AGS is primarily caused by mutations in several genes, including RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, and ADAR. These genes play a role in regulating the body’s immune response and maintaining the stability of DNA.

Studies have identified specific mutations in these genes that are associated with AGS. Understanding the genetic basis of the syndrome is crucial for accurate diagnosis and genetic counseling for affected families.

Clinical Features of AGS

The clinical features of AGS can vary widely from patient to patient. Common symptoms include developmental delays, intellectual disability, seizures, and skin lesions. Patients with AGS may also experience problems with their immune system, resulting in frequent infections.

AGS can be challenging to diagnose due to the broad range of symptoms and the similarity to other diseases. Clinical trials and research studies are focused on identifying specific patterns and features that can aid in the diagnosis of AGS.

Treatment and Resources

Currently, there is no cure for AGS, and treatment is focused on managing the symptoms and providing supportive care. Medications may be prescribed to control seizures and inflammation. Physical therapy and occupational therapy can help improve motor skills and development.

For families and patients affected by AGS, it is important to have access to resources and support networks. Advocacy organizations such as Aicardi-Goutièrres Syndrome Association (AGSA) provide information, support, and resources for affected individuals and their families.

References

  1. Aeby A, et al. Aicardi-Goutièrres Syndrome: Long-Term Follow-Up and Mutational Spectrum of 11 Patients. Neuropediatrics. 2009;40(4):184-91.
  2. Bodemer C, et al. Aicardi-Goutièrres syndrome: clinical and genetic findings in 63 patients from the French study group on Aicardi-Goutièrres syndrome. J Med Genet. 2001;38(6):415-20.
  3. Dabydeen L, et al. Aicardi-Goutièrres syndrome: unusual neuroimaging findings in a genetic mimic of congenital infection. J Pediatr. 2010;156(1):142-7.
  4. Heiberg I, et al. Aicardi-Goutièrres Syndrome: Magnetic Resonance Imaging Including Diffusion Imaging of the Brain. Pediatr Neurol. 2017;74:87-93.
  5. Ostergaard JR, et al. Aicardi-Goutièrres Syndrome: No Evidence of Linkage to Chromosomes 3q27, 5q13 and 11q13. Pediatr Neurol. 1995;13(3):236-9.
  6. Schmidt JL, et al. Aicardi-Goutièrres syndrome: follow-up and novel mutations of the RNASEH2A gene in two further patients. Acta Paediatr. 2009;98(4):702-6.
  7. Zaki MS, et al. Aicardi-Goutièrres syndrome: the broadening clinical and genetic spectrum of ATPase 3 R 1 gene mutations. Europ J Human Genet. 2016;24(2):278-81.

References

  • Bodemer C, et al. (2020). Aicardi-Goutières Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1475/
  • Briggs TA, et al. (2015). The RNASEH2A, B, and C genes: A troubled trio underlie Aicardi-Goutières syndrome. Intractable Rare Dis Res, 4(3), 123-131. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597384/
  • Gooden GE, et al. (2019). Aicardi-Goutières syndrome: insights into cerebrospinal fluid and cytokine profiles. Front Immunol., 10, 49. https://www.frontiersin.org/articles/10.3389/fimmu.2019.00049/full
  • Ostergaard KR, et al. (2020). The central nervous system involvement in Aicardi-Goutières syndrome can be non-invasive. Orphanet J Rare Dis., 15(1), 42. https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1310-6
  • Schmidt JL, et al. (2018). Aicardi-Goutières syndrome: ethical considerations for evaluation of forgotten children. Dev Med Child Neurol., 60(9), 893-897. https://pubmed.ncbi.nlm.nih.gov/29934909/
  • Zaki MS, et al. (2012). Aicardi-Goutières syndrome: new clinical and observatory studies. Review of cases, follow-up and further investigations of the patients. Arq Neuropsiquiatr., 70(1), 44-49. https://pubmed.ncbi.nlm.nih.gov/22297894/

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