Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-04516-0.pdf
Reference8 articles.
1. Livingston JH, Crow YJ (2016) Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières syndrome and beyond. Neuropediatrics 47:355–360
2. Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol. 2010 Aug;52(8):725-32.
3. Adang LA, Gavazzi F, Jawad AF, Cusack SV, Kopin K, Peer K, Besnier C, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Shults J, Vanderver A (2020) Development of a neurologic severity scale for Aicardi Goutières syndrome. Mol Genet Metab 130:153–160
4. Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E (2009) Aicardi-Goutières syndrome: neuroradiologic findings and follow-up. Am J Neuroradiol 30:1971–1976
5. Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Developmental Outcomes of Aicardi Goutières Syndrome. J Child Neurol. 2020 Jan;35(1):7-16.
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