Treatments in Aicardi-Goutieres syndrome

被引：83

作者：

Crow, Yanick J. ^{[1
,2
]}

Shetty, Jayakara ^{[3
,4
]}

Livingston, John H. ^{[5
]}

机构：

[1] Univ Edinburgh, MRC Inst Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh, Midlothian, Scotland

[2] Paris Descartes Univ, Inst Imagine, Lab Neurogenet & Neuroinflammat, Paris, France

[3] NHS Lothian, Royal Hosp Sick Children, Edinburgh, Midlothian, Scotland

[4] Univ Edinburgh, MRC Ctr Reprod Hlth, Dept Child Life & Hlth, Edinburgh, Midlothian, Scotland

[5] Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England

来源：

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2020年 / 62卷 / 01期

关键词：

MUTATIONS; TREX1; RNASEH2B; SAMHD1; DISEASE; ADAR1; IFIH1; RNA;

D O I：

10.1111/dmcn.14268

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi-Goutieres syndrome (AGS), particularly its contextualization within a putative type I interferonopathy framework, already exist. However, recent reports of attempts at treatment suggest that an assessment of the field from a therapeutic perspective is warranted at this time. Here, we briefly summarize the neurological phenotypes associated with mutations in the seven genes so far associated with AGS, rehearse current knowledge of the pathology as it relates to possible treatment approaches, critically appraise the potential utility of therapies, and discuss the challenges in assessing clinical efficacy. What this paper adds Progress in understanding AGS disease pathogenesis has led to the first attempts at targeted treatment. Further rational therapies are expected to become available in the short- to medium-term.

引用

页码：42 / 47

页数：6

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