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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

Variable

C9Plus (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), y

60.87 (55.28–65.94)

61.25 (56.58–65.05)

60.05 (52.05–65.26)

Age at Onset, median (IQR), y

59.25 (52.94–64.08)

60.08 (55.08–63.42)

NA

Survival after Onseta, median (IQR), y

1.98 (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), kb

20.05 (15.58–26.27)

NA

NA

  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%)