More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Aicardi Goutières Syndrome (AGS) is a condition affecting the brain that most commonly presents at birth or in early infancy. Children with AGS develop abnormalities in behaviour and development such as irritability and jitteriness, stiffness of limbs, feeding problems, and sometimes epilepsy. The irritability usually lasts for several months and then begins to settle. They may also develop other medical problems such as skin rashes, liver, blood or heart problems. However most children with AGS continue to have significant disability affecting feeding, mobility, learning and understanding. How severely an individual with AGS is affected varies from child to child. In the more severely affected, life expectancy is significantly reduced. Atypical and later onset forms of the condition can occur and the clinical course may be milder.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
Mutations in any of nine different genes may cause Aicardi Goutieres Syndrome. These are TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1 (also known as MDA5), LS11, RNU7. Mutations in these genes cause an increase in the production of a chemical called interferon which is thought to play a central role in the brain injury that occurs in AGS.
Mutations in these genes may sometimes cause neurological conditions that are different from AGS and that do not primarily affect the white matter of the brain.
Aicardi Goutieres syndrome (AGS) usually presents at birth or in the first year of life although later onset may occur. Those presenting at birth usually have the most severe symptoms with neurological abnormalities, a skin rash, enlarged liver and spleen and a fever.
Alternatively there may be a period of normal development followed by a rapid onset of irritability, regression of development, epileptic seizures, feeding difficulties and fever. There is usually a period of several months of extreme irritability and the onset of neurological abnormalities such as stiffness and spasticity of the arms and legs, abnormal eye movements, swallowing difficulties and slowing of head growth. Fever is common and initially a brain infection is suspected. The exclusion of infection and abnormal brain scan appearances (CT and MRI) usually lead to the diagnosis.
The disease course usually stabilises but neurological problems such as stiffness, feeding difficulties, speech problems, poor vision and learning difficulties persist. Around a third of patients develop chilblain like skin lesions.
Atypical and later onset forms of the condition can occur and the clinical course may be milder.
Those with the most severe form usually do not live past 10 years of age, those with a milder form have been known to survive into adulthood.
Note: Aicardi-Goutieres Syndrome differs from Aicardi Syndrome which is not a leukodystrophy
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Usually Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
May be Autosomal dominant: In autosomal dominant conditions, only one copy of the genetic mutation is needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. Someone with an autosomal dominant condition has one parent with a copy of the genetic mutation and the condition themselves. Therefore, someone with an autosomal dominant condition has a genetic mutation on one copy of the gene from their parent with the condition. Each child of a parent with the genetic mutation will have a 50% chance of having the condition and a 50% chance of not having the condition.
Learn about the ways in which we can help in the how we support you section. When you or a family member are diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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