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ID:33747028
大小:2.39 MB
页数:26页
时间:2019-02-28
《伴发严重白内障的脊髓小脑性共济失调1个家系的临床表现、影像学特点与基因突变分析》由会员上传分享,免费在线阅读,更多相关内容在行业资料-天天文库。
1、ClinicalManifestation,ImagingCharacteristics,andGenMutationAnalysisofOnePedigreeoftheSpinocerebellarAtaxiawithSevereCataractMasterdegreecandidate:LeiGuoSupervisor:ProfessorChun—BoDongMajor:NeurologyAbstractObjective:Spinocerebellarataxia(SEA)isararedegenerativediseaseofthenervoussystem.Th
2、eclinicalcharacteristicofthisdiseaseiSinsidiousonset.slowinprogress.Usuallythepatientcan’twalkinthe10—20yearsafteronset.ForthereasonthatthesymptomofSCAarevariedandcompletedalsothereareoverlapinthesymptomofdifferentsubtypesinSCA,theclinicaldiagnosisoftheSCAisverydifficult.Untilnowthediagno
3、sisofdifferenttypesofSCAstilldependsontheclinicalmanifestationsmainly,particularlyitscharacteristicclinicalfindingstogetherwitllpositivefamilyhistory.Geneticdiagnosisisanimportantmeansofdiagnosis.Atotalof35typesofSCAwerereportednow,andaspecialSCApedigreewithcataractwasfoundbyUSandthemainc
4、linicalmanifestations,imagecharacteristicsandgenemutationwerestudied.Methods:Theclinicalfilesofthepedigreewascollected.ThescorewasevaluatedusingInternationalCooperativeAtaxiaRatingScale(ICARS)andmini.mentalstateexamination(MMSE)onthecasesandthememberswitlloutt11edisease.M砌wasscannedtothec
5、ases’brain,andtheimagechangesofwhichwasdescribed.ThegenedetectionWasconductedbyusingpolymerasechainreaction(PCR)andAgargelelectrophoresistechnologyonthecasesandsomehealthysubjectsinthepedigree.Results:Allthesixcasesmanifestedascerebellarataxiatogetherwithseverecataracts.3ofsixmembersfromt
6、he2ndgenerationfelliII,theincidenceratewas50%,andthediseasewasfoundinbothmaleandfemaleinthepedigree.Themeanageofthesixcaseswas27.3(士3.6)years,inwhich3deadcases’averagedurationwas14.0(士1.7)years.TheICARSscoreofthe3existingcaseswas20points,44points,93pointsrespectively,andtheMMSEscoreswere2
7、7points,28points,5pointsrespectively.All3the6casesgotdiseaseafter20yearsold,andaverageageofonsetamongsecondandthirdgenerationfrompedigreewere29.3(士O.6)years,25.3(士4。5)yearsoldrespectively.Theonsetperiodof3rdgenerationwasearliert11a112nd.Atrophyincerebellumandponswas
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