Aicardi-Goutieres Syndrome 1
Aicardi-Goutieres

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We were unfortunately unable to download the information for this disease from OMIM.



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