大脑叶酸缺乏:一种可治疗的病晚期恶化的原因,发育延迟
Fahmida Amin Chowdhury1, Elisaveta Sokolov2,3, Jessica Anderson4
1Neurology, National Hospital for Neurology and Neurosurgery, London, UK.
Practical neurology
|December 22, 2023
概括
由于CNTNAP2突变而导致的罕见遗传性,由于脑叶酸缺乏症而恶化. 叶酸治疗稳定了神经衰退,强调了诊断成年人的代谢状况的重要性.
科学领域:
- 神经遗传学 神经遗传学
- 代谢障碍 代谢障碍 代谢障碍
- 是一种病.
背景情况:
- 儿童发作的和发育迟缓可能与遗传因素有关,例如接触素相关蛋白类2 (CNTNAP2) 基因的突变.
- 渐进的神经系统恶化,包括移动性问题和语言回归,即使在已知的遗传条件下也可能发生.
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