锌指蛋白512B基因变异的肌萎缩侧索硬化1例报告

A case of Amyotrophic Lateral Sclerosis caused by ZNF512Bgene mutation was reported

肌萎缩侧索硬化(Amyotrophic Lateral Sclerosis,ALS)是运动神经元病中最常见的类型,以进行性加重的骨骼肌无力、萎缩、肌束颤动、延髓麻痹和锥体束征为主要临床表现。随着分子生物技术的飞速发展,对该病的研究取得了突破性进展。在FALS的遗传学研究中,许多诱发ALS发病的易感基因已被确定,11种基因可以描述FALS的致病突变,包括SOD1、ALS2、VAPB、SETX、ANG、DCTN1、TARDBP、NEFH、FUS、DAO和OPTN。关于SALS的易感基因已有数十篇来自候选基因的相关研究报道,包括NEFH、ANG、APEX、HFE、PON、SMN1、SMN2和VEGF,对于SALS的基因研究极为重要。

Amyotrophic Lateral Sclerosis （Amyotrophic Lateral Sclerosis,ALS） is one of the most common type of motor neuron diseases, with progression of skeletal muscle weakness and atrophy, muscle tremor,bulbar paralysis and pyramidal tract as the main clinical manifestations. With the rapid development of molecular biotechnology, a breakthrough has been made in the study of the disease. In the genetic research of FALS, many cause ALS pathogenesis of susceptibility genes have been identified, 11 kinds of genes can describe FALS pathogenic mutations, including SOD1, ALS2, VAPB, your SETX, ANG, DCTN1, TARDBP, NEFH, FUS, DAO and OPTN. There have been dozens of reports on SALS susceptibility genes from candidate genes, including NEFH ,ANG,APEX, HFE,PON,SMN1 ,SMN2 and VEGF,which are very important for the gene research of SALS.