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Table 1 Demographic characteristics of the discovery and replication datasets

From: Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease

  Discovery Replication Joint dataset
ADAD AD Controls ADAD AD Controls ADAD AD Controls
Sample size 17 59 10 4 194 13 21 253 23
Age at death (years) 52.0 (38.8–88.2) 84.0 (72.0–96.1) 92.5 (75.7–103.4) 58.0 (42.1–75.6) 83.0 (68.0–98.0) 87.0 (80.0–101.0) 54.0 (39.0–88.0) 83.0 (68.0–98.0) 90.0 (79.1–104.0)
Sex (% males) 71% 49% 30% 75% 39% 38% 71% 41% 35%
Age at onset (years) 39.0 (28.6–76.0) 75.0 (58.8–90.2) 62.0 (52.1–71.9) 73.0 (55–92.0) 51.0 (28.9–75.8) 73.0 (55.5–92.0)
PSEN1 mutation (% of carriers) 82% 0% 0% 50% 0% 0% 76% 0% 0%
PMI (hours) 9.0 (4.2–30.8) 11.6 (4.4–22.5) 10.5 (5.1–19.4) 10.3 (4.7–14.9) 12.1 (4.0–23.0) 9.1 (3.8–16.2) 9.0 (4.5–26.5) 12.0 (4.0–22.7) 9.5 (4.5–20.5)
CDR® at death 2.0 (1.5–3.0) 3.0 (3.0–3.0) 0.3 (0–0.5) 3.0 (2.5–3.0) 3.0 (2.0–3.0) 0 (0–0) 2.5 (2.0–3.0) 3.0 (2.0–3.0) 0 (0–0.25)
  1. ADAD autosomal dominant Alzheimer's disease, AD sporadic Alzheimer's disease, PSEN1 presenilin1, PMI post-mortem interval, CDR® clinical dementia rating. Age at Death, Age at Onset, and PMI are expressed as the median value with 95% Inter Quartile Interval; CDR® at Death is expressed as the median value with 75% Inter Quartile Interval