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- Yanick J Crow
- Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh UK
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- Jayakara Shetty
- Royal Hospital for Sick Children NHS Lothian Edinburgh UK
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- John H Livingston
- Department of Paediatric Neurology Leeds General Infirmary Leeds UK
抄録
<jats:sec><jats:label /><jats:p>Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi–Goutières syndrome (<jats:styled-content style="fixed-case">AGS</jats:styled-content>), 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 <jats:styled-content style="fixed-case">AGS</jats:styled-content>, 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.</jats:p></jats:sec><jats:sec><jats:title>What this paper adds</jats:title><jats:p> <jats:list list-type="bullet"> <jats:list-item><jats:p>Progress in understanding AGS disease pathogenesis has led to the first attempts at targeted treatment.</jats:p></jats:list-item> <jats:list-item><jats:p>Further rational therapies are expected to become available in the short‐ to medium‐term.</jats:p></jats:list-item> </jats:list> </jats:p></jats:sec>
収録刊行物
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- Developmental Medicine & Child Neurology
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Developmental Medicine & Child Neurology 62 (1), 42-47, 2019-06-07
Wiley