Fig. 1

a After adjustment for five major cell types (neurons, microglia, astrocytes, oligodendrocytes, and endothelial cells), expression levels of C9orf72 are shown for all disease groups: patients with a C9orf72 repeat expansion (C9Plus), patients without this expansion (C9Minus), and control subjects (Control). b Without adjustment for five cell types, the expression levels of C9orf72 are displayed for C9Plus, C9Minus, and Control. Importantly, in both graphs, C9orf72 levels are lower in C9Plus than in C9Minus or Control. For each box plot, the median is represented by a solid black line, and each box spans the interquartile range (IQR; 25th percentile to 75th percentile). c In total, 4443 differentially expressed genes are detected when comparing C9Plus to C9Minus. The comparison between C9Plus and Control results in 2334 differentially expressed genes. As displayed in the Venn diagram, 1460 differentially expressed genes overlap. d All overlapping genes go in the same direction (lower left quadrant and upper right quadrant)