ADPRHL2基因相关应激诱发的儿童神经退行性病变伴癫痫-共济失调综合征研究进展

Research progress of ADPRHL2 gene related stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

ADPRHL2基因突变导致应激诱发的儿童神经退行性病变伴癫痫-共济失调综合征是近几年新诊断的一种遗传性神经系统退行性疾病,该病报道病例数少,起病年龄早,病死率高。为引起临床医师的重视,现就ADPRHL2基因及蛋白结构功能,ADPRHL2基因相关应激诱发的儿童神经退行性病变伴癫痫-共济失调综合征的遗传方式、致病机制、临床特点及治疗预后的研究进展进行综述。

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures caused by ADPRHL2 gene mutation is a recently diagnosed hereditary neurodegenerative disease,featured by a small number of reported cases,early age of onset,and high mortality.Therefore,to attract the attention of clinicians,the research progress of ADPRHL2 gene,its protein structure and function,as well as the hereditary mode,pathogenic mechanism,clinical features,and treatment prognosis of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures were reviewed in this paper.