Diagnostic and Prognostic Value of Plasma NfL and Creatinine in a Korean Cohort of Amyotrophic Lateral Sclerosis and Spinal and Bulbar Muscular Atrophy: A Cross-Sectional Study

초록

ObjectiveBiomarkers that can distinguish motor neuron disease spectrum conditions, such as spinal and bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS), could facilitate early-stage diagnosis. This study used a multibiomarker approach to improve the differential diagnosis between SBMA and ALS.MethodsIn this study, plasma samples were collected from patients with SBMA (n = 44), male patients with ALS (n = 26), and healthy controls (n = 20). Plasma levels of neurofilament light chain (NfL), creatine (Cr), and Cr kinase (CK) were measured. Disease severity was assessed using the Revised ALS Functional Rating Scale scores and its subscores in both patient groups. Additionally, SBMA-specific functional measures, including SBMA Functional Rating Scale (SBMAFRS) scores and the 6-Min Walk Test (6MWT), were evaluated in patients with SBMA.ResultsNfL levels were significantly higher in patients with ALS than in patients with SBMA and healthy controls, and were significantly influenced by age. When the three biomarkers were entered into logistic regression models, NfL levels alone could be used to differentiate ALS from SBMA almost perfectly, and the inclusion of Cr or CK levels did not improve this differentiation. Within the SBMA group, however, Cr levels were correlated with the lower-limb subscore of the SBMAFRS and with 6MWT results, which points to a role in tracking motor function rather than in diagnosis.ConclusionsOur results indicated that plasma NfL levels could be used to reliably distinguish ALS from SBMA, whereas plasma Cr levels were better suited as a marker of muscle function and disease severity in SBMA. Measuring both of these may therefore aid diagnosis as well as prognostic assessment in patients with suspected motor neuron disease.

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