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Table 1 Characteristics of primary cohort

From: Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

VariableC9Plus (n = 75)C9Minus (n = 33)Control (n = 20)
Sex, No. (% female)41 (54.67)15 (45.45)10 (50.00)
Site of Onset, No. (% bulbar)15 (20.00)6 (18.18)NA
Age at Collection, median (IQR), y60.87 (55.28–65.94)61.25 (56.58–65.05)60.05 (52.05–65.26)
Age at Onset, median (IQR), y59.25 (52.94–64.08)60.08 (55.08–63.42)NA
Survival after Onseta, median (IQR), y1.98 (1.54–3.10)1.99 (1.12–3.19)NA
Methylation, median (IQR), %4.05 (1.10–17.95)0.24 (0.15–0.33)0.46 (0.14–0.75)
Expression, median (IQR), %73.32 (65.96–86.20)110.70 (93.68–132.88)100.00 (87.48–111.27)
Repeat Length, median (IQR), kb20.05 (15.58–26.27)NANA
  1. C9Plus patients with a C9orf72 repeat expansion, C9Minus patients without this expansion, Control control subjects without a neurodegenerative disease, IQR interquartile range, NA not applicable
  2. aIn total, 23 of our 75 affected C9orf72 expansion carriers are currently alive (31%). Of the 33 patients without this expansion, 20 are alive (61%)