重庆地区脊髓小脑共济失调的临床特征分析与分子遗传学研究

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1、重庆地区脊髓小脑共济失调的临床特征分析与分子遗传学研究张凤娟1*，郭洪2*，陈阳美1，宋敏1，白云2（400010重庆，重庆医科大学附属第二医院神经内科1，400038重庆，第三军医大学基础医学部医学遗传学教研室2）[摘要]目的研究重庆地区遗传性脊髓小脑共济失调（spinocerebellarataxias，SCAs）的遗传学分型及临床表现。方法：应用聚合酶链式反应(polymerasechainreaction，PCR)和琼脂糖凝胶电泳以及DNA测序技术，分析了10个常染色体显性脊髓小脑共济失调家系及9例散发小

2、脑性共济失调患者的SCA1、SCA2、SCA3、SCA6、SCA7、SCA12、SCA17、齿状核红核苍白球路易体萎缩(dentatorubral-pallidoluysianatrophy，DRPLA)的致病基因，并结合临床资料进行分析。结果其中8个家系分子遗传学检测明确为SCA3型，另外2个家系及散发患者均未明确其遗传学亚型。8个SCA3家系中，通过基因诊断确诊患者15例，CAG重复58~71次，症状前患者7例，CAG重复56~71次。SCA3临床表现以小脑共济失调及构音障碍为主，有典型的遗传早现现象，影像学

3、表现为幕下脑萎缩。结论SCA3是重庆地区最常见的脊髓小脑共济失调类型，主要表现为小脑共济失调、构音障碍及幕下脑萎缩。家族性SCA患者脑萎缩程度较散发患者轻，患者脑干萎缩程度与病程相关，病程越长，脑干萎缩越严重。[关键词]脊髓小脑性共济失调；家系；动态突变；基因[中图法分类号]R744.7[文献标志码]AClinicalandgeneticstudyonacohortofspinocerebellarataxiapatientsinChongqingdistrictFengjuanZhang1*,HongGuo2*

4、,YangmeiChen1,MinSong1#,YunBai2#(40010Chongqing,DepartmentofNeurology,TheSecondAffiliatedHospital,ChongqingMedicalUniversity1,400038Chongqing,DepartmentofMedicalGenetics,ThirdMilitaryMedicalUniversity2)[Abstract]Aim:Toundertakeanclinicalandgeneticspectrumanal

5、ysisinpatientswithhereditaryspinocerebellarataxia(SCA)inChongqingdistrict.Methods:SCA1,2,3,6,7,12,17anddentatorubral-palliodoluysianatrophy(DRPLA)nucleotiderepeatmutationsweredetectedin10autosomaldominantSCAfamiliesand9sporadicSCApatientsbyPCR,agarosegelelect

6、rophoresisandDNAsequencing.Theclinicaldatawasalsoanalyzed.Results:Therewere8SCA3families,theother2familiesandthesporadiccasesweregeneticallyunidentified.Inthe8SCA3families,15patientswereconfirmed,with58-71timesCAGrepeat.7familymembersdiagnosedtobepresymptomat

7、icpatients,with56-71timesCAGrepeat.Therewastypicalgeneticanticipation,withcerebellarataxia,dysarthriaandtentoriumbrainatrophy.Conclusions:SCA3issubstantiallythemostcommonsubtypeinSCApatientsinChongqingdistrict,manifestedbycerebellarataxia,dysarthriaandtentori

8、umbrainatrophy.TheclinicalsymptomsismoreseriousinsporadicSCApatientsthanSCApatientswithfamillyhistory.Thedegreeofbrainstematrophyisassociatedwiththecourse of disease,thelongertheduration,