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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