{"title":"家族性神经元核内包涵体病伴阵发性意识障碍1例","authors":"Q. Tong, X. Tian, Xiaofeng Zhu, Jinlong Zheng","doi":"10.3760/CMA.J.ISSN.0254-9026.2019.11.028","DOIUrl":null,"url":null,"abstract":"本病例急性起病，首诊被误诊为急性缺血性脑血管病，经皮肤活检和FMR1基因检测排除脆性X相关震颤/共济失调综合征(FXTAS)最终确诊为神经元核内包涵体病(NIID)。通过对本病例资料的复习，可以加深对NIID的认识，提高临床对NIID的识别能力和鉴别诊断水平，避免误诊和漏诊。","PeriodicalId":9997,"journal":{"name":"中华老年医学杂志","volume":"38 1","pages":"1307-1309"},"PeriodicalIF":0.0000,"publicationDate":"2019-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"One case of familial neuronal intranuclear inclusion disease presenting with paroxysmal disturbance of consciousness\",\"authors\":\"Q. Tong, X. Tian, Xiaofeng Zhu, Jinlong Zheng\",\"doi\":\"10.3760/CMA.J.ISSN.0254-9026.2019.11.028\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"本病例急性起病，首诊被误诊为急性缺血性脑血管病，经皮肤活检和FMR1基因检测排除脆性X相关震颤/共济失调综合征(FXTAS)最终确诊为神经元核内包涵体病(NIID)。通过对本病例资料的复习，可以加深对NIID的认识，提高临床对NIID的识别能力和鉴别诊断水平，避免误诊和漏诊。\",\"PeriodicalId\":9997,\"journal\":{\"name\":\"中华老年医学杂志\",\"volume\":\"38 1\",\"pages\":\"1307-1309\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-11-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中华老年医学杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3760/CMA.J.ISSN.0254-9026.2019.11.028\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华老年医学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/CMA.J.ISSN.0254-9026.2019.11.028","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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