Figure 1. Analysis of C9ORF72 expansion allele size.

A, Southern blot analysis of five unrelated probands and four Aus-14 family members with the C9ORF72 repeat expansion, plus an expansion-negative control (N). Wild-type (wt) and expansion (exp) alleles are indicated; the smaller expansion allele in case 100 is arrowed. A band running at ∼3.8 kb was also observed (asterisk); this probably arises from unspecific probe binding. B, Scatter plot of age of onset of disease versus estimated mean number of C9ORF72 hexanucleotide repeats in expansion allele carriers.