伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的临床特点(附1家系报告).pdfVIP

·254· !垦!!旦塑竺坚竺!!垒坚￡里坠兰鱼!!!!竺!：呈鱼!堕竺：兰 ·论著· 伴皮质下梗死和白质脑病的常染色体显性 遗传性脑动脉病的临床特点 (附1家系报告) 胡新星，秦超，程道宾，叶子明，王天保 【摘要】 目的探讨伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cADAsIL)的临床特 点。方法对1例cADAsIL患者及其家系的临床资料进行回顾性分析。结果先证者以大脑皮质下梗死起 病，伴有渐进性认知功能障碍。头颅MRI示皮质下多发梗死灶，脑白质疏松。NOTHc3基因检测为第3号外 显子Argll0Cys突变，家系调查显示为常染色体显性遗传。结论cADAsIL临床表现主要为缺血性卒中、认 知障碍、偏头痛及精神症状。MRI特征性改变是颞极白质T：的异常高信号。NOTcH3基因检查发现突变。 【关键词】 伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病；家系；临床特点 【中图分类号】R749．13 【文献标识码】A 【文章编号】1004—1648(2013)04—254_03 ClinicaIfeaturesofcerebralautosomaldominant infarcts 砌thsubcorticaI and arteriopathy of1 HU leukoencephalopathy(reportfhIIIily)X珏痂w，Q，ⅣC^∞，C舰，vGD∞一6流，以of．D印on脱m可 Neurology，theFtrSt领li咖aHosp讧越《G№喏感Med泌缸Un诌ershy，N帆n主昭53002l，ChtM Abstract： To theclinicalfeaturesofcerebralautosomaldominant with Objective investigate aneriopathy subcorticaljnfarc￡sand Cljniealdalaofa wilhCADASILand leukoencephalopathy(CADASIL)．Methodspa￡ient his were familyanalvzed Theclinicalmanifestationofthe wasonsetassubcortical retrospectively．ResuIts pmband associatedwith MRIshowedsubco币calmulmnfarctlesionsand infarction，and pmgressivecognitivedysfunction． leukoaraiosis．Genetic revealed mutationin thethirdexonofNOTHC3 showed tes“ng A。9110Cys gene．Familysunrey autosomaIdominent inhe而tence．ConclusionsIschemic andmental stmke， migraine cogni“vedysfunction， arethecommonmanifestationsofCADASIL． ThecharacteristicofMRIisabno丌Ilal