异染性脑白质营养不良的研究进展  

RESEARCH ADVANCES IN METACHROMATIC LEUKODYSTROPHY

作　　者：孙珊珊 赵翠萍 SUN Shanshan;ZHAO Cuiping(Department of Neurology,Qilu Hospital of Shandong University(Qingdao),Qingdao 266035,China)

机构地区：[1]山东大学齐鲁医院(青岛)神经内科,山东青岛266035

出　　处：《青岛大学学报（医学版）》2021年第4期621-625,共5页Journal of Qingdao University(Medical Sciences)

基　　金：国家重点研发计划项目(2016YFC0105901SDZ)。

摘　　要：异染性脑白质营养不良(MLD)作为一种罕见的遗传性疾病,多与ARSA基因突变有关。近年发现其基因型与临床表现有关。其影像学诊断及治疗方面亦有新进展。Metachromatic leukodystrophy(MLD)is a rare hereditary disease and is often caused by ARSA gene mutations,and recent studies have shown that ARSA genotype is associated with clinical manifestations.New progress has also been made in the imaging diagnosis and treatment of MLD.

关 键 词：脑白质营养不良 异染性 溶酶体贮积病 神经系统 脑苷脂硫酸酯酶 磁共振成像 综述 

分 类 号：R742.89[医药卫生—神经病学与精神病学] R977.6[医药卫生—临床医学]