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뇌척수액 신경잔섬유 가벼운사슬의 호전을 보이는 성인 척수근위축증 3a형 증례: 실사용 근거
A Case of Spinal Muscular Atrophy Type 3a Showing Improvement in Neurofilament Light Chain of Cerebrospinal Fluid: Real-world Evidence
- 고판우;
- 이종목
초록
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.
키워드
Motor neurons; Oligonucleotides; antisense; Survival of motor neuron 1 protein
- 제목
- 뇌척수액 신경잔섬유 가벼운사슬의 호전을 보이는 성인 척수근위축증 3a형 증례: 실사용 근거
- 제목 (타언어)
- A Case of Spinal Muscular Atrophy Type 3a Showing Improvement in Neurofilament Light Chain of Cerebrospinal Fluid: Real-world Evidence
- 저자
- 고판우; 이종목
- 발행일
- 2024-02
- 유형
- Y
- 저널명
- 대한신경과학회지
- 권
- 42
- 호
- 1
- 페이지
- 40 ~ 43
- 언어
- KOR
- 출판사
- 대한신경과학회
- 발행국가
- 대한민국
- 분량
- 4 페이지
- ISSN
- E 2288-985X
P 1225-7044