{"title":"一例脊髓肌肉萎缩症 3a 型患者脑脊液神经丝轻链改善：真实世界的证据","authors":"Pan-Woo Ko, Jong-Mok Lee","doi":"10.17340/jkna.2023.0049","DOIUrl":null,"url":null,"abstract":"A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"131 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Case of Spinal Muscular Atrophy Type 3a Showing Improvement in Neurofilament Light Chain of Cerebrospinal Fluid: Real-world Evidence\",\"authors\":\"Pan-Woo Ko, Jong-Mok Lee\",\"doi\":\"10.17340/jkna.2023.0049\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.\",\"PeriodicalId\":437080,\"journal\":{\"name\":\"Journal of the Korean Neurological Association\",\"volume\":\"131 \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the Korean Neurological Association\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17340/jkna.2023.0049\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Korean Neurological Association","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17340/jkna.2023.0049","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
一名 38 岁的男性被诊断患有脊髓性肌萎缩症（SMA）3a 型，之前曾被误诊为肌肉萎缩症。在获得医疗保险服务机构的批准后，他开始接受努西那生治疗。在鞘内注射奴西能生时收集了脑脊液（CSF）。我们使用单分子阵列测量了神经丝蛋白轻链（NfL）水平，作为疗效生物标志物。完成负荷剂量后，CSF NfL水平明显下降。我们的病例表明，从现实世界的证据来看，作为一种生物标志物，奴西那生对成人 SMA 患者同样有效。
A Case of Spinal Muscular Atrophy Type 3a Showing Improvement in Neurofilament Light Chain of Cerebrospinal Fluid: Real-world Evidence
A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.
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