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Quantitative muscle MRI in monitoring disease progression and nusinersen treatment effects in spinal muscular atrophy
Louise Otto1, Martijn Froeling2, Ruben van Eijk1,3, Renske Wadman1, Inge Cuppen4, Danny van der Woude5, Bart Bartels5, Fay-Lynn Asselman1, Jeroen Hendrikse2, and Ludo van der Pol1
1Department of Neurology, UMC Utrecht Brain Center, University Medical Center, Utrecht, Utrecht, Netherlands, 2Department of Radiology, University Medical Center Utrecht, the Netherlands, Utrecht, Netherlands, 3Biostatistics & Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Netherlands, 4Department of Neurology and Child Neurology, UMC Utrecht Brain Center, University Medical Center, Utrecht, Utrecht, Netherlands, 5Department of Child Development and Exercise Center, University Medical Center Utrecht, the Netherlands, Utrecht, Netherlands
qMRI in treatment-naïve patients with spinal muscular atrophy was able to measure subclinical disease progression. In young children, DIXON and DTI sequence showed ongoing fatty infiltration and normalization of thigh muscle microstructure during the first year of nusinersen treatment.

Illustration of pipeline and steps of mask alignment of longitudinal data

The methodology of alignment of imaging stacks is illustrated by the steps involving conversion of masks; initial and final masks in panel A and automated steps in mask alignment in panel B. In panel C, the images of time-point A and time-point B are rendered red and blue, to illustrate the incongruency between datasets before (left) and after (right) rigid, affine and b-spline registration. The non-corresponding regions can be identified as they maintain their respective color.

Histogram and plots of qMRI parameters of treatment-naïve cohort at both time-points

In the upper row, MD, FA and T2 are plotted against fat fraction, with each of the individual datapoints as dots, reduced to an average line using local regression with 95%-CI (shaded area). The bottom row represents the histograms of each of the qMRI parameters, the red arrow indicates significant changes and its direction. Time-point A is indicated in grey, and time-point B in green. All presented data is from the treatment-naïve cohort.