摘要
神经系统遗传病是由于遗传物质发生改变影响神经系统而引起的疾病,由于其发病机制复杂,症状多样,早期诊断困难,治疗也十分困难,相当一部分疾病至今仍不可治。神经系统单基因遗传病发病涉及一对等位基因,严格按照孟德尔遗传定律。随着医学研究的发展,学者们对其分子发病机制了解得越来越多,诊断和治疗也获得较大的进展,能够医治的这类疾病越来越多,治疗的方法亦越来越多,患者生活质量亦逐渐得到改善。本文简要综述部分疾病近年的治疗概况。
The onset of neuro-inherited disorder is based on the lesion of nervous system due to the alteration of genetic material. These disorders are difficult to be diagnosed and treated because of the varieties of symptoms and complicated pathogenesis. The monogenetic disorders refer to an allelic mutation and inherit in accordance with Mendelian inheritance. A majority of monogenic disorder of the nervous system are now uncurable. But in recent years more and more methods are applied to these disorders, and more and more of these disorders are curable. The progression of the treatment in recent years was introduced partly in this
出处
《中华脑科疾病与康复杂志（电子版）》
2015年第1期46-49,共4页
Chinese Journal of Brain Diseases and Rehabilitation（Electronic Edition）
基金
国家自然科学基金面上项目(81171070)
关键词
神经系统
单基因遗传病
治疗
Nervous system
Monogenic disorder
Treatment
