痉挛性截瘫并共济失调表型的家系基因分析  

A genetic analysis of families with spastic paraplegia and ataxia phenotype

作　　者：符星 杜鹃[2] FU Xing;DU Juan(Department of Neurosurgery,Changsha Central Hospital,University of South China,Changsha,Hunan 410000,China;Department of Neurology,Xiangya Hospital of Central South University,Changsha,Hunan 410008,China)

机构地区：[1]南华大学附属长沙中心医院神经外科,湖南长沙410000 [2]中南大学湘雅医院神经内科,湖南长沙410008

出　　处：《国际神经病学神经外科学杂志》2021年第5期456-460,共5页Journal of International Neurology and Neurosurgery

摘　　要：以该院门诊收治的5例具有痉挛性截瘫合并共济失调表型的家系先证者为研究对象,运用高通量测序芯片结合毛细管电泳技术对这些家系先证者进行致病基因动态突变检测。发现了一个家系先证者携带有ATXN3/MJD1基因CAG重复84次,其妹妹CAG重复82次,其父CAG重复73次,该家系拟诊为遗传性脊髓小脑共济失调3型(SCA3/MJD)家系,并具有明显的临床异质性及遗传早现现象。建议对于兼有痉挛性截瘫及小脑性共济失调表型的患者,特别是具有显性遗传家族史的患者,应进行SCA3致病基因的动态突变检测,同时对家系内表型正常的成员应仔细查体,以防漏诊。Five probands with spastic paraplegia and ataxiaphenotype in the outpatient department were selected as subjects.High-throughput sequencing chips combined with capillary electrophoresis were used to detect the dynamic mutations of pathogenic genes in the probands.One proband was found to carry 84 CAG repeats in the ATXN3/MJD1 gene,and his sister and father carried 82 and 73 CAG repeats,respectively;thus,this family was suspected to have a hereditary spinocerebellar ataxia type 3/Machado-Joseph disease(SCA3/MJD)pedigree,and had obvious clinical heterogeneity and anticipation.It is suggested that patients with spastic paraplegia and cerebellar ataxia phenotype,especially those with a family history of dominant inheritance,shall undergo adynamic mutation detection of SCA3 pathogenic genes;at the same time,members with normal phenotype in their families should undergo a careful physical examination to avoid missed diagnosis.

关 键 词：脊髓小脑共济失调3型 遗传性痉挛性截瘫 表型 高通量测序芯片 毛细管电泳技术 

分 类 号：R745.4[医药卫生—神经病学与精神病学]