Fig. 5.

Multimodal imaging composite scores separate preSxC9 from controls and show structural and functional connectivity disruption as early as the third decade. (A) The plot shows a w-score composite (the average of gray matter intensity, fractional anisotropy and lowest ICN w-scores for each subject) plotted versus age. The C9 + fit line appears horizontal, thus suggesting a consistently reduced w-score composite across the entire age range. (B) Individual C9 + subject w-scores from VBM, DTI, and ICN analyses for the most reduced ICN for each subject in order of ascending age. (C) Effect size (Cohen's d) for detecting differences between C9 + and controls for VBM, DTI, and most reduced (weakest) ICN. C9 + = presymptomatic C9ORF72 expansion carriers (black dots); C9– = non-carrier family members (black circles); HC = healthy controls included in all three imaging modalities (indicated by “x”). Axis labels for age were omitted to preserve anonymity.