Abstract:

Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation sequencing (NGS), choosing proper sequencing methods is a new challenge. This paper aims to review different strategies and problems of genetic diagnosis for monogenic neurogenetic diseases based on clinical phenotypes, gene mutation characteristics and gene sequencing methodology.

Key words: Genetic diseases, inborn, Nervous system diseases, Genes, Review

摘要：

神经系统遗传性疾病临床症状复杂、诊断困难，基因检测是明确诊断的终极手段。近年来分子诊断技术的进步、方法的更新，尤其是二代基因测序技术的广泛应用，使从众多检测方法中选择适宜的基因检测方法成为临床医师的新挑战。本文拟从疾病临床表型出发，结合不同基因突变和基因检测方法，对神经系统单基因遗传病基因诊断策略及问题进行综述。

关键词: 遗传性疾病, 先天性, 神经系统疾病, 基因, 综述