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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