| |
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)
|
- 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
