Aicardi-Goutieres syndrome 5

Aicardi-Goutieres syndrome 5 is an autosomal recessive disorder caused by mutations of the SAMHD1 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.

Epidemiology

The prevalence of all types of Aicardi-Goutieres syndrome is less than 1-5:10,000.

Systematic

Aicardi-Goutieres syndrome
	Aicardi-Goutieres syndrome 1
	Aicardi-Goutieres syndrome 2
	Aicardi-Goutieres syndrome 3
	Aicardi-Goutieres syndrome 4
	Aicardi-Goutieres syndrome 5
		SAMHD1
	Aicardi-Goutieres syndrome 6
	Aicardi-Goutieres syndrome 7

References:

1.	Rice GI et al. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

2.	Dale RC et al. (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

3.	Leshinsky-Silver E et al. (2011) A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.

4.	Wikipedia article Wikipedia EN (Aicardi–Goutières_syndrome)