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Aicardi Goutieres syndrome 1, autosomal dominant

MedGen UID:
461665
•Concept ID:
C3150315
•
Disease or Syndrome
Synonym: AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
 
OMIM®: 225750; 606609

Recent clinical studies

Etiology

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
Rheumatology (Oxford) 2014 Mar;53(3):448-58. Epub 2013 Dec 3 doi: 10.1093/rheumatology/ket372. PMID: 24300241
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA
Am J Med Genet A 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620. PMID: 20799324

Diagnosis

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
Markovic I, Jocic-Jakubi B, Milenkovic Z
Neuroradiol J 2023 Dec;36(6):740-745. Epub 2023 Feb 1 doi: 10.1177/19714009231154677. PMID: 36722173Free PMC Article
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Jones HF, Stoll M, Ho G, O'Neill D, Han VX, Paget S, Stewart K, Lewis J, Kothur K, Troedson C, Crow YJ, Dale RC, Mohammad SS
Brain Dev 2022 Feb;44(2):153-160. Epub 2021 Oct 24 doi: 10.1016/j.braindev.2021.10.001. PMID: 34702576
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
Rheumatology (Oxford) 2014 Mar;53(3):448-58. Epub 2013 Dec 3 doi: 10.1093/rheumatology/ket372. PMID: 24300241
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?
Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A
Autoimmun Rev 2013 Feb;12(4):506-9. Epub 2012 Aug 24 doi: 10.1016/j.autrev.2012.08.012. PMID: 22940555

Therapy

Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.
Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H
Pediatr Rheumatol Online J 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. PMID: 37848905Free PMC Article

Prognosis

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Jones HF, Stoll M, Ho G, O'Neill D, Han VX, Paget S, Stewart K, Lewis J, Kothur K, Troedson C, Crow YJ, Dale RC, Mohammad SS
Brain Dev 2022 Feb;44(2):153-160. Epub 2021 Oct 24 doi: 10.1016/j.braindev.2021.10.001. PMID: 34702576
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?
Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A
Autoimmun Rev 2013 Feb;12(4):506-9. Epub 2012 Aug 24 doi: 10.1016/j.autrev.2012.08.012. PMID: 22940555

Clinical prediction guides

Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.
Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H
Pediatr Rheumatol Online J 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. PMID: 37848905Free PMC Article
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ
Neuropediatrics 2017 Jun;48(3):166-184. Epub 2017 Apr 10 doi: 10.1055/s-0037-1601449. PMID: 28561207Free PMC Article
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
Rheumatology (Oxford) 2014 Mar;53(3):448-58. Epub 2013 Dec 3 doi: 10.1093/rheumatology/ket372. PMID: 24300241
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ
J Med Genet 2014 Feb;51(2):76-82. Epub 2013 Nov 21 doi: 10.1136/jmedgenet-2013-102038. PMID: 24262145

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