Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study

Voxelwise between-group comparison of QSM. A, Lightbox axial view with 4-mm section spacing. The yellow-red spectrum indicates clusters with higher QSM, and the blue-to-light blue spectrum shows clusters with lower QSM values in the NPC group compared with healthy controls. B, A visualization of the thalamus with clusters that show significant between-group QSM difference. Red and blue indicate higher and lower QSM in the NPC group compared with the control group, respectively. Clusters with increased QSM in NPC, depicted in red, are in the posterior part of the thalamus, consistent with the anatomic location of the pulvinar nucleus.

Representative QSM images from control and NPC groups. Colored lines mark the borders of segmentations labels: green, putamen; brown, caudate nucleus; red, thalamus; blue, globus pallidus.

ROI-based between-group comparison of mean QSM values. In the Tukey boxplots, the middle line of each box indicates the median, upper, and lower boundaries of the boxes and shows the upper and lower quartiles, respectively; the upper and lower whiskers show the maximum and minimum data points; and the cross signs indicate the mean in each group. Filled triangles represent data points from patients with NPC who were not taking miglustat. Error bars indicate SDs in the entire control and NPC groups. In the thalamus, patients with NPC who were not taking miglustat had higher mean QSM values than those who were prescribed miglustat. L indicates left; R, right.