Fig. 3: Flowchart showing the modeling of disease prevalence by age for C9orf72-ALS, C9orf72-FTD, HD in 40 CAG repeat carriers, SCA2, DM1, SCA1 and SCA6.
From: Increased frequency of repeat expansion mutations across different populations
The UK population count by age is multiplied by the disease allele frequency of each genetic defect and the age of onset distribution of each corresponding disease, and corrected for median survival. Penetrance is also taken into account for C9orf72-ALS and C9orf72-FTD. The estimated number of people affected by REDs (dark-blue area) is compared with the reported prevalence from the literature (light-blue area). x-axis: The age bins are 5 years each; y-axis: estimated number of affected individuals. For C9orf72-FTD, given the wide range of the reported disease prevalence32,33, both lower and upper limits are plotted in light blue.
