Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Department of Neurology, Ulm University, Ulm, Germany.
Ann Clin Transl Neurol. 2021 May;8(5):1049-1063. doi: 10.1002/acn3.51340. Epub 2021 Mar 31.
To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q-associated spinal muscular atrophy (SMA).
Within this retrospective, multicenter observational study in 206 adult patients with SMA, we determined clinical subtypes (SMA types, ambulatory ability) and repeatedly measured CK and Crn and examined disease severity scores (Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, and revised Amyotrophic Lateral Sclerosis Functional Rating Scale). Patients were followed under nusinersen treatment for 18 months.
CK and Crn differed between clinical subtypes and correlated strongly with disease severity scores (e.g., for Hammersmith Functional Motor Scale Expanded: (CK) ρ = 0.786/ (Crn) ρ = 0.558). During the 18 months of nusinersen treatment, CK decreased (∆CK = -17.56%, p < 0.0001), whereas Crn slightly increased (∆Crn = +4.75%, p < 0.05).
Serum creatine kinase activity and serum creatinine concentration reflect disease severity of spinal muscular atrophy and are promising biomarkers to assess patients with spinal muscular atrophy during disease course and to predict treatment response. The decrease of creatine kinase activity, combined with the tendency of creatinine concentration to increase during nusinersen treatment, suggests reduced muscle mass wasting with improved muscle energy metabolism.
确定血清肌酸激酶活性（CK）和血清肌酐浓度（Crn）是否可作为预测成人 5q 相关脊髓性肌萎缩症（SMA）患者疾病严重程度、疾病进展和 nusinersen 治疗效果的预后和预测生物标志物。
在这项针对 206 例成年 SMA 患者的回顾性多中心观察性研究中，我们确定了临床亚型（SMA 类型、步行能力），并反复测量 CK 和 Crn，同时还检测了疾病严重程度评分（改良 Hammersmith 功能运动量表扩展版、修订后的上肢模块和改良的肌萎缩侧索硬化功能评定量表）。患者接受 nusinersen 治疗 18 个月。
CK 和 Crn 在临床亚型之间存在差异，并与疾病严重程度评分高度相关（例如，改良 Hammersmith 功能运动量表扩展版：（CK）ρ=0.786/（Crn）ρ=0.558）。在 18 个月的 nusinersen 治疗期间，CK 降低（∆CK=-17.56%，p<0.0001），而 Crn 略有增加（∆Crn=+4.75%，p<0.05）。
血清肌酸激酶活性和血清肌酐浓度反映了脊髓性肌萎缩症的严重程度，是评估脊髓性肌萎缩症患者疾病过程中并预测治疗反应的有前途的生物标志物。肌酸激酶活性的降低，加上 nusinersen 治疗期间肌酐浓度有增加的趋势，表明肌肉质量减少，肌肉能量代谢得到改善。
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