Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy

Background With the approval of disease-modifying treatments for 5q-spinal muscular atrophy (SMA), there is an increasing need for biomarkers for disease course and therapeutic response monitoring. Radially sampled Averaged Magnetization Inversion Recovery Acquisitions (rAMIRA) MR-imaging enables spinal cord (SC) gray matter (GM) delineation and quantification in vivo. This study aims to assess SC GM atrophy in patients with 5q-SMA and its associations with clinical disability. Methods Twenty-one patients with 5q-SMA and twenty-one age- and sex-matched healthy controls (HCs) prospectively underwent 3 T axial 2D-rAMIRA MR-imaging at the intervertebral disc levels C2/C3-C5/C6 and T max (lumbar enlargement level). Associations between SC GM areas with muscle strength tested by dynamometry, Motor Function Measure (MFM), revised upper limb module (RULM), Revised Hammersmith Scale (RHS), and SMA-Functional Rating Scale (SMA-FRS) were assessed by Spearman Rank correlations and linear regression analysis. Results Compared to HCs, patients had significantly reduced SC GM areas at levels C3/C4 (relative reduction (RR) = 13.6%, p