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. Author manuscript; available in PMC: 2013 Apr 1.
Published in final edited form as: Lancet Neurol. 2012 Mar 9;11(4):323–330. doi: 10.1016/S1474-4422(12)70043-1

Figure 2.

Figure 2

Age-related penetrance of the GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene based on an analysis of 603 mutant-gene carriers (n = 212 familial ALS patients, n = 234 sporadic ALS, n = 99 familial FTD, n = 53 sporadic FTD, and n = 5 neurologically normal controls). The age-related penetrance (i.e., the proportion of mutant-gene carriers with manifestations of the disease by a given age) rose steadily, from 10% in the <45 years-old group, to ~100% by the age of 80 years. The dotted lines represent the age at which 50% of the cohort developed symptoms.