| 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) |