Angelman综合征发病机制、分型及治疗进展

摘要

Angelman综合征(AS)是以严重发育迟缓、智力低下、语言障碍、共济失调、癫痫发作、愉快表情为特征的神经遗传性疾病。成年AS患者生活质量低下，对家庭及社会造成极大负担。目前已知AS有4种基因型，不同基因型患者的临床表现存在差异。文章综述近年对AS发病机制、基因缺陷分型、治疗的研究进展。%Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, speech impairment, gait ataxia, epileptic seizures, and exuberant behavior with happy demeanor. The ma-jority of patients have poor quality of life and cause great burden to family and society. It is known that AS is caused by four gen-otypes which have different clinical manifestations. In this article, the recent advances in pathogenesis, the relationship between genotype and symptoms, and the treatment strategies of AS will be reviewed.