遗传性痉挛性截瘫伴胼胝体发育不良的遗传学研究进展  

Research advances in genetics of hereditary spastic paraplegia with thin corpus callosum

作　　者：李爽 刘小民 LI Shuang;LIU Xiao-Min(Department of Neurology,The First Affiliated Hospital of Shandong First Medical University,Jinan,250014,Shandong,China)

机构地区：[1]山东第一医科大学第一附属医院神经内科,山东济南250014

出　　处：《国际神经病学神经外科学杂志》2020年第5期555-558,共4页Journal of International Neurology and Neurosurgery

基　　金：山东省自然科学基金项目(ZR2013HQ016);山东省重点研发计划项目(2015GGH318011);山东省中医药科技发展计划项目(2015-287)。

摘　　要：遗传性痉挛性截瘫伴胼胝体发育不良(HSP-TCC)是复杂型HSP的一种,临床特点为进行性双下肢痉挛伴胼胝体发育不良,多儿童及青少年发病,常伴智能障碍。HSP-TCC具有高度的遗传异质性,病理提示皮质脊髓束变性。目前已发现至少19个疾病基因,主要包括:SPG1、SPG11、SPG15、SPG21、SPG35、SPG44、PG47、SPG54、SPG56等。该文就近年来有关该病的遗传学研究进展进行了综述,以期有助于该病的鉴别与诊断。Hereditary spastic paraplegia with thin corpus callosum(HSP-TCC)is one of complex HSP forms,and clinically charac-terized by progressive spasticity of the lower limbs and thin corpus callosum.The onset of HSP-TCC occurs mainly in children and adolescents,and is frequently accompanied by intellectual disability.The pathological examination of HSP-TCC suggests degeneration of the corticospinal tract.Due to its vast genetic heterogeneity,at least 19 disease-related genes have been found so far,including SPG1,SPG11,SPG15,SPG21,SPG35,SPG44,PG47,SPG54,and SPG56.Here,we review the recent research progress in the genetics of this disease,aiming to provide a reference for the diagnosis and differential diagnosis of HSP-TCC.

关 键 词：遗传性痉挛性截瘫 胼胝体发育不良 突变 发病机制 

分 类 号：R742[医药卫生—神经病学与精神病学]