Aicardi-Goutieres Syndrome 1
Aicardi-Goutieres

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Description from OMIM

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1; 147660), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006). In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene. Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (251290), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (304050), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres Syndrome See also AGS2 (610181), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B; 610326) on chromosome 13q; AGS3 (610329), caused by mutation in the RNASEH2C gene (610330) on chromosome 11q13.2; AGS4 (610333), caused by mutation in the RNASEH2A gene (606034) on chromosome 19p13.13; AGS5 (612952), caused by mutation in the SAMHD1 gene (606754) on chromosome 20; AGS6 (615010), caused by mutation in the ADAR1 gene (146920) on chromosome 1q21; and AGS7 (615846), caused by mutation in the IFIH1 gene (606951) on chromosome 2q24.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Microcephaly nervous 100 % 15883328 2014-01-24
Basal ganglia pathology nervous 100 % 15883328 2014-01-24
Basal ganglia calcifications nervous 100 % 15883328 2014-01-24
Leukodystrophy nervous 100 % 15883328 2014-01-24
Cerebral atrophy nervous 100 % 15883328 2014-01-24
Developmental delay nervous 100 % 24300241 2014-01-24
CSF elevated neopterin nervous 75 % 24300241 2014-01-24
CSF lymphocytosis nervous 70 % 24300241 2014-01-24
CSF elevated IFN-alpha nervous 63 % 24300241 2014-01-24
Serum elevated IFN-alpha circulatory 57 % 24300241 2014-01-24
Irritability nervous 45 % 15883328 2014-01-24
Psychomotor retardation nervous 45 % 15883328 2014-01-24
Fever nervous 35 % 15883328 2014-01-24
Feeding difficulties nervous 35 % 15883328 2014-01-24
Increased blood transaminase circulatory 35 % 15883328 2014-01-24
Seizures nervous 27 % 15883328 2014-01-24
Chilblain-like lesions integumentary 18 % 15883328 2014-01-24



List of references:


The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.
G Lanzi, E Fazzi, S D'Arrigo, S Orcesi, I Maraucci, C Uggetti, E Bertini, P Lebon,

Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.

Neurology - May 2005



A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Junya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, Mitsuhiro Kato, Noriko Mitsuiki, Kazushi Izawa, Tomonari Awaya, Tomoki Kawai, Takahiro Yasumi, Itaru Toyoshima, Kazuko Hasegawa, Yusei Ohshima, Toru Hiragi, Yoji Sasahara, Yasuhiro Suzuki, Masahiro Kikuchi, Hitoshi Osaka, Takashi Ohya, Shinya Ninomiya, Satoshi Fujikawa, Manami Akasaka, Naomi Iwata, Akiko Kawakita, Makoto Funatsuka, Haruo Shintaku, Osamu Ohara, Hiroshi Ichinose, Toshio Heike,

Aicardi-Goutières syndrome (AGS) is a rare, genetically determined, early onset progressive encephalopathy associated with autoimmune manifestations. AGS is usually inherited in an autosomal recessive manner. The disease is rare, therefore the clinical manifestations and genotype-phenotype correlations, particularly with regard to autoimmune diseases, are still unclear. Here we performed a nationwide survey of AGS patients in Japan and analysed the genetic and clinical data.

Rheumatology (Oxford, England) - Mar 2014