Fig. 3

Expansion size of C9orf72 repeat. a When comparing C9orf72 expansion carriers with symptoms (affected) to those presently without symptoms (unaffected), a longer expansion is observed in affected subjects. The median is represented by a solid black line, and each box spans the interquartile range (IQR; 25th percentile to 75th percentile). b Fluctuations are detected in the expansion size of subjects with an expanded C9orf72 repeat; no clear pattern emerges. For each individual, longitudinal measurements are connected by a solid colored line. c There is no correlation between expansion sizes in blood, frontal cortex, or cerebellum. For each individual, three bars are displayed that correspond to expansion sizes in a specific tissue type. d One pedigree is shown (PED1) with the proband (II-1; arrow), his siblings (II-3 and II-4), and his children (III-1 and III-2). Affected individuals are denoted by a solid black square. Information is provided regarding the onset age (OA), death age (DA), expansion size (S), methylation level (M), and expression level (E), when available (N/A)