MECP2基因及MECP2相关疾病

发布时间：2018-05-14 00:03

本文选题：MECP基因 + 刻板动作　；参考：《中国当代儿科杂志》2017年05期

【摘要】：正Andrea Rett首次于1966年报道一例青年女性在1~1.5岁之前正常发育,以后出现认知、运动倒退以及手的刻板动作,提出一类疾病"认知倒退、脑萎缩伴有高氨血症"~([1])。伴有高氨血症的类似病例因此受到关注,不幸的是血氨升高是实验室误差所致。直到1983年,Hagberg等~([2])在Annals of Neurology报道了类似发育倒退但没有高氨血症
[Abstract]:Positive Andrea Rett reported for the first time in 1966 a young woman who developed normal development before the age of 1: 1. 5 and developed cognitive, motor regression and hand stereotype. A class of diseases, "cognitive retrogression, brain atrophy with hyperammoniaemia" ([1]), were reported for the first time. Similar cases with hyperaminemia are therefore of concern. Unfortunately, elevated blood ammonia is due to laboratory errors. Until 1983, Hagberg et al. ([2]) reported similar developmental regression without hyperammonia in Annals of Neurology.
【作者单位】：中南大学湘雅医院儿科;
【分类号】：R741

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