Diseases of the human nervous system are an important cause of morbidity and mortality worldwide. These disorders arise out of multiple aetiologies of which rare genetic mutations in genes vital to nervous system development and function are an important cause. The diagnosis of such rare disorders is challenging due to the close overlap of clinical presentations with other diseases that are not of genetic origin. Further, understanding the mechanisms by which mutations lead to altered brain structure and function is also challenging, given that the brain is not readily accessible for tissue biopsy. However, recent developments in modern technologies have opened up new opportunities for the analysis of rare genetic disorders of the brain. In this review, we discuss these developments and strategies by which they can be applied effectively for better understanding of rare diseases of the brain. This will lead to the development of new clinical strategies to manage brain disorders.

人类神经系统疾病是全世界发病和死亡的重要原因。这些疾病由多种病因引起，其中对神经系统发育和功能至关重要的基因中罕见的基因突变是一个重要原因。由于临床表现与其他非遗传性疾病密切重叠，此类罕见疾病的诊断具有挑战性。此外，鉴于大脑不易进行组织活检，了解突变导致大脑结构和功能改变的机制也具有挑战性。然而，现代技术的最新发展为分析罕见的大脑遗传疾病开辟了新的机会。在这篇综述中，我们讨论了这些进展和策略，通过它们可以有效地应用它们以更好地了解大脑罕见疾病。这将导致开发新的临床策略来管理脑部疾病。