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。 Nervous system genetic disease is a disease caused by the change of genetic material that affects the nervous system. Due to its complicated pathogenesis and diverse symptoms, it is difficult to diagnose early and difficult to treat. A considerable number of diseases are still beyond cure. The incidence of nervous system monogenic genetic disease involves a pair of alleles, in strict accordance with Mendelian law of genetics. With the development of medical research, scholars have learned more and more about their molecular pathogenesis, made great progress in diagnosis and treatment, more and more such diseases can be healed, and more and more methods for treatment are available , Patients’ quality of life also gradually improved. This article briefly summarizes the treatment of some diseases in recent years.