Fig. 2

Model staging results. a Model stage distribution by mutation status. Smoothed histograms of individual model stage in mutation carriers (red) and noncarriers (broken green). Mutation carriers are at more-advanced stages, with all noncarriers except for one outlier being at stage one (ALF Story) or zero. This outlier demonstrated inconsistencies in cognitive performance with discordant scoring across tests of the same cognitive domain, e.g. low event probability for ALF list vs high event probability for ALF story. b Model stage correlates with EYO in mutation carriers. Model stage correlates with EYO (x-axis labels omitted to avoid unblinding). Linear regression gives r² = 0.24 (p < 0.05). c Model stage can be used to classify patients (mutation carrier) from controls (noncarriers) at a very early presymptomatic stage, with very high accuracy (> 90%). Abbreviations: NC, noncarrier; MC, mutation carrier