Home A-Z conditions Aicardi-Goutières syndrome
Aicardi-Goutières syndrome (AGS) is a genetic brain disease which can be mistaken for the consequences of viral infections affecting a child in the womb. Most children with AGS show signs of the condition in the first few months of life. Features allowing a doctor to make a diagnosis of AGS include:
Last updated July 2018 by Professor Yanick Crow, University of Edinburgh, Edinburgh, UK.
Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.
What are the symptoms?
In general terms there are two types of presentation in AGS. Some babies, especially those with AGS1 mutations (see ‘What are the causes?’), experience problems at or very soon after birth. Features include feeding difficulties, abnormal neurological signs, low platelets (blood cells involved in clotting), and liver abnormalities. In contrast, other children, develop normally for the first few weeks or months of life. They then experience the sudden onset of a period of intense irritability, cry a lot for hours at a time, sleep poorly, and can develop fevers without infection. During this period there is a loss of skills.
After a few months the disease process seems to ‘stop’. Many individuals with AGS are still stable in their late teens and early twenties. Typical neurological features of AGS include learning problems, stiffness of the limbs with poor body and head control, dystonia (impairment in muscle tone) of the limbs, and seizures (see entry Epilepsy). Although the neurological problems seen in AGS are often severe, a small number of children, usually those with AGS2 or AGS5-7 mutations, display good communication skills, and a few children can have completely normal intellectual development.
What are the causes?
Seven different genes (see table) have been identified that, when damaged by a mutation, can cause Aicardi-Goutières syndrome (AGS). Only one gene is involved in any one family.
% of families with mutations
How is it treated?
The following treatments may be used for the management of AGS:
Surveillance includes the following:
Inheritance patterns and prenatal diagnosis
Inheritance patterns AGS is most frequently inherited as an autosomal recessive genetic disorder. This means that for a couple with one affected child there is a 1 in 4 risk of having a further affected child in any future pregnancy. However, there are rare autosomal dominant cases with specific genetic changes in AGS1 and AGS6, and the same dominant situation applies to all cases due to genetic changes in AGS7. Where the disease occurs due to a single ‘new mutation’ in the affected child, known as a sporadic mutation, the risk of recurrence is very low. Very rarely with dominantly inherited disease, a ‘carrier’ parent is at risk of having a more severely affected child.
Prenatal diagnosis The availability of genetic testing allows for confirmation of the diagnosis of AGS in most, but not all, families. For couples where mutations have been identified in their child it may be possible to offer testing during a subsequent pregnancy.
Is there support?
Contact Professor Yanick Crow: firstname.lastname@example.org
Group details last updated July 2018.
Necessary cookies are absolutely essential for the website to function properly. These cookies ensure basic functionalities and security features of the website, anonymously.
Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features.
Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.
Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics the number of visitors, bounce rate, traffic source, etc.
Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. These cookies track visitors across websites and collect information to provide customized ads.
Other uncategorized cookies are those that are being analyzed and have not been classified into a category as yet.