Genetic Background of Encephalopathy
Genetic Background of Encephalopathy
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DOI：
10.1016/b978-0-323-53088-0.00006-3
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
A. Ishii;S. Hirose
中科院分区：
文献类型：
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作者：
A. Ishii;S. Hirose
急性脑病（AE）的分子病理机制仍然很大程度上未知。据估计，日本儿童每年 AE 的发病率为 1700-3400 例中就有 1 例。日本和东亚种族个体中 AE 的高发病率表明存在潜在的遗传背景。然而，AE 由多种疾病组成，因此其异质性和稀有性阻碍了分子遗传学分析。尽管如此，最近已经开展了几项研究来确定 AE 的遗传背景。特别是，单基因家族性或复发性急性坏死性脑炎（ANE）可能由 RANBP2 突变引起的发现提供了证据，证明遗传因素有助于 AE 的发病机制。 1 本综述涵盖了目前对 AE 遗传背景的理解，这是通过最近有关 AE 免疫学、神经学和代谢方面相关遗传信息的报告确定的（图 6.1）。
The molecular pathomechanisms of acute encephalop-athy (AE) remain largely unknown. The incidence of AE in Japanese children is estimated at 1 out of 1700–3400 per year. This high incidence of AE in Japan and among individuals of East Asian ethnicity suggests an underlying genetic background. AE, however, consists of multiple disorders, and hence its heterogeneity and rarity hinder molecular genetic analyses. Nevertheless, several recent studies have been implemented to identify the genetic background of AE. In particular, the discoveries that monogenic familial or recurrent acute necrotizing encephalitis (ANE) may be caused by RANBP2 mutations have provided evidence that genetic factors contribute to the pathogenesis of AE. ¹ This review covers the current understanding of the genetic background of AE as ascertained through recent reports regarding genetic information related to the immunologic, neu-rologic, and metabolic aspects of AE (Fig. 6.1).