舞蹈症-棘红细胞增多症临床特征及诊治  

Clinical features,diagnosis,and treatment of chorea-acanthocytosis

作　　者：刘慧卿 林靖奇 孟红梅[1] 侯帅[1] LIU Huiqing;LIN Jingqi;MENG Hongmei(Department of Neurology,The First Hospital of Jilin University,Changchun 130021,China)

机构地区：[1]吉林大学白求恩第一医院神经内科,吉林长春130021

出　　处：《中风与神经疾病杂志》2023年第8期692-696,共5页Journal of Apoplexy and Nervous Diseases

摘　　要：舞蹈症-棘红细胞增多症(ChAc)属于神经棘红细胞增多症(NA)较为常见的一种,目前常染色体9q21上的VPS13A基因是唯一致病基因,以神经系统变性表现及外周血棘红细胞增多为典型特征,其临床表现复杂多样,辅助检查结果多变,目前国内外尚无统一的诊治标准,本文通过总结相关文献,针对ChAc的病因及发病机制、临床表现、诊断标准、治疗、疾病管理及预后进行阐述。Chorea-acanthocytosis(ChAc)is a common type of neuroacanthocytosis,and the VPS13A gene which settles on autosomal 9q21 is the only pathogenic gene.ChAc has the typical features of neurological degeneration and peripheral blood acanthocytosis,as well as complex and diverse clinical manifestations and variable results of auxiliary examinations.At present,there are still no unified diagnosis and treatment standards for this disease in China and globally.By summarizing related articles,this article elaborates on ChAc from the aspects of etiology and pathogenesis,clinical manifestations,diagnostic criteria,treatment,disease management,and prognosis.

关 键 词：舞蹈症-棘红细胞增多症 神经棘红细胞增多症 VPS13A chorein蛋白 

分 类 号：R742.2[医药卫生—神经病学与精神病学]