AGS Basics
what does AGS stand for?
Aicardi-Goutières Syndrome
What is the name for a very small head size?
Microcephaly
What system attacks the body in AGS?
Immune system
When was AGS first discovered?
1984
What are genes?
Body instructions
Is Aicardi-Goutières Syndrome common or rare?
rare
Name one movement problem a child with AGS may have.
Spasticity / stiff muscles / trouble moving (any one)
What protein is too high in AGS?
Interferon
Who discovered AGS?
Jean Aicardi and Françoise Goutières
Name one gene linked to AGS.
SAMHD1 / TREX1 / RNASEH2a
Which body part is mainly affected by AGS?
brain
What happens when calcium builds up in the brain?
Brain calcification (calcium buildup in the brain)
True or False: The immune system attacks the brain by mistake.
true
About how many AGS cases are known?
400–500
Most AGS is inherited in what pattern?
Autosomal recessive
Is AGS caused by germs or genes?
genes
True or False: All children with AGS are born with symptoms.
false
Interferon usually fights what?
viruses
True or False: AGS was first thought to be a virus.
True
If both parents carry one gene, what chance does a child have of AGS?
25%
What three body systems are affected by AGS?
The brain, immune system, and skin
Name a skin problem in AGS.
Chilblains
What system attacks the brain in AGS?
immune system
What did doctors first think AGS was?
A virus
How many changed genes does a child need to get AGS?
2