Etiology, pathology and pathogenesis of acute necrotizing encephalopathy and acute encephalopathy with biphasic seizures and late reduced diffusion

为了阐明急性坏死性脑病（ANE）和急性脑病合并双相发作和晚期弥散减少（AESD）的病因，进行了遗传分析。我们通过全国性的合作研究收集了血液样本，并检查了候选基因的突变和多态性。我们发现线粒体酶CPT2和腺苷受体ADORA2A的多态性使儿童易患AESD，并且某些HLA类型是ANE的危险因素。这些发现导致鉴定这些综合征的病理机制的关键分子。我们还发现日本散发性ANE与RANBP2突变无关，不像白种人的家族性ANE。

To elucidate the etiology of acute necrotizing encephalopathy (ANE) and acute encephalopathy with biphasic seizures and late reduced diffusion (AESD),genetic analyses were performed. We collected blood samples by a nationwide collaborative study, and examined mutations and polymorphisms of candidate genes. We found that polymorphism of a mitochondrial enzyme, CPT2, and an adenosine receptor, ADORA2A,predisposes children to AESD, and that certain HLA types are a risk factor for ANE. These findings led to identification of key molecules of the pathomechanism of these syndromes.We also found that Japanese sporadic ANE is unrelated to mutation of RANBP2, unlike familial ANE in Caucasians.