Aicardi-Goutieres syndrome 6 is an autosomal recessive disorder caused by mutations of the ADAR gene. Aicardi-Goutieres syndrome is characterized by subacute encephalopathy with basal ganglia calcification, cystic leukodystrophy, lymphocytosis of the cerebrospinal fluid. The onset is usually soon after birth, but also milder cases with normal cognitive function have been reported.
The prevalence of all types of Aicardi-Goutieres syndrome is less than 1-5:10,000.
1. |
Rice GI et al. (2012) Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. |
2. |
Livingston JH et al. (2014) A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. |
3. |
Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. |
4. |
Wikipedia article Wikipedia EN (Aicardi–Goutières_syndrome) |