Fig. 3

R-HCR is more sensitive than FISH at detecting endogenous G₄C₂ repeats in C9orf72 ALS-FTD patient fibroblasts. a–c FISH (a) and R-HCR (b) in three (C1–C3) C9orf72 ALS-FTD patient and control fibroblast lines, c treated with DNase and RNase prior to R-HCR. White arrows were used indicate RNA foci positive cells in some images. Higher magnification images of the boxed areas are shown on the right. d Quantification of a and b. e–f Quantification of RNA foci number per RNA + cell and the distribution for RNA foci. Error bars = 95% CI (d and f ) and ± SEM (e). N > 150 for each line. Statistics: Fisher’s exact test (d), unpaired t test (e) and Chi-square test (f). ***p < 0.001, ****p < 0.0001, ns = not significant. Scale bar = 50 μm in left for a and b; 20 μm in right for a and b, and c