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

《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