Table 1.
Demographics, clinical information, and biomarkers across diagnostic categories
| CN | AD | DLB | FTLD | Down | Others | ||
|---|---|---|---|---|---|---|---|
| N | 197 | 518 | 128 | 186 | 225 | 536 | |
| AGE, years | Mean (SD) | 53.5 (12.5) | 73.1 (6.88) | 75.7 (5.49) | 70.8 (8.58) | 45.1 (10) | 70 (9.18) |
| Median [IQR] | 55 [46–62] | 74 [69–78] | 76 [71–80] | 72 [66–77] | 48 [40–52] | 71 [65–77] | |
| SEX, females/males (% females) | 132/65 (67%) | 311/207 (60%) | 64/64 (50%) | 77/109 (41.4%) | 103/122 (45.8%) | 310/226 (57.8%) | |
| MMSE score | Mean (SD) | 29.2 (0.889) | 23.6 (4.52) | 24 (4.09) | 24 (5.08) | NAa | 25.4 (4.12) |
| Median [IQR] | 29 [29–30] | 25 [22–27] | 24.5 [22–27] | 25 [21–28] | NAa | 27 [24–28] | |
| Education, years | Mean (SD) | 15.6 (3.99) | 10.7 (4.72) | 9.18 (5.05) | 12 (5.13) | 15.3 (3.07) | 10.7 (4.93) |
| Median [IQR] | 16 [12–20] | 10 [8–13] | 8 [7–12] | 12 [8–16] | NAa | 9 [8–13] | |
| APOEε4, APOEε4−/APOEε4+ (%APOEε4+) | 46/151 (23.4%) | 254/251 (50.3%) | 33/93 (26.2%) | 37/139 (21%) | 44/177 (19.9%) | 115/413 (21.8%) | |
| Follow-up, years | Mean (SD) | 2.02 (1.99) | 1.09 (1.49) | 3.33 (1.93) | 1.71 (1.47) | 1.76 (2.09) | 0.59 (1.23) |
| Median [IQR] | 1.71 [0–2.82] | 0 [0–2.06] | 3.46 [2.07–4.52] | 1.52 [0.242–2.66] | NAa | 0 [0–0.383] | |
| Aβ1–42, pg/ml | Mean (SD) | 1148 (397) | 562 (165) | 817 (399) | 938 (446) | 715 (417) | 1000 (500) |
| Median [IQR] | 1118 [849–1371] | 556 [432–673] | 703 [542–1009] | 850 [569–1229] | 583 [430–892] | 896 [609–1323] | |
| Aβ1–40, pg/ml | Mean (SD) | 11,694 (3595) | 12,790 (3781) | 11,506 (4189) | 10,806 (4357) | 11,673 (4678) | 11,399 (4390) |
| Median [IQR] | 11,329 [9238–13,777] | 12,541 [10,125–15,122] | 10,885 [8882–14,234] | 10,140 [7710–13,334] | 11,035 [8346–14,594] | 10,638 [8112–13,986] | |
| Aβ1–42/Aβ1–40 | Mean (SD) | 0.0991 (0.0181) | 0.0453 (0.0108) | 0.0727 (0.0263) | 0.0877 (0.0221) | 0.0615 (0.0226) | 0.0862 (0.0225) |
| Median [IQR] | 0.104 [0.0986–0.109] | 0.0445 [0.0376–0.0514] | 0.0662 [0.0503–0.0996] | 0.0964 [0.0731–0.103] | 0.0562 [0.0422–0.078] | 0.0943 [0.0665–0.103] | |
| tTau, pg/ml | Mean (SD) | 255 (152) | 748 (358) | 456 (334) | 387 (260) | 644 (520) | 334 (231) |
| Median [IQR] | 230 [174–291] | 656 [488–915] | 361 [253–525] | 322 [222–456] | 489 [262–870] | 292 [213–378] | |
| pTau181, pg/ml | Mean (SD) | 37.3 (27.3) | 122 (60.3) | 70.5 (55.5) | 49.9 (39.2) | 100 (96.8) | 45 (27.4) |
| Median [IQR] | 31.6 [24.9–42] | 105 [78.7–145] | 51 [35.7–83] | 39.7 [29.2–54.1] | 63.6 [29.8–151] | 41 [29.3–52.7] | |
| NfL, pg/ml | Mean (SD) | 475 (256) | 1330 (1824) | 1108 (570) | 2079 (1836) | 815 (773) | 1488 (1340) |
| Median [IQR] | 458 [320–533] | 981 [791–1254] | 918 [719–1297] | 1412 [884–2767] | 614 [357–1014] | 1089 [595–1878] | |
| Clinical stage, CN/MCI/dementia (% MCI) | 177/0/0 | 0/296/208 | 2/60/64 | 5/90/80 | NAa | 27/348/125 | |
| Amyloid profile (Aβ1–42[−]Ratio[−]/Aβ1–42[−]Ratio[+]/Aβ1–42[+]Ratio[−]/Aβ1–42[+]Ratio[+]) | 165/13/11/8 | 4/154/2/358 | 50/29/7/42 | 120/8/23/35 | 61/37/13/114 | 345/45/47/100 | |
MMSE Mini-Mental State Examination, CSF cerebrospinal fluid, CN cognitively normal, AD Alzheimer’s disease, DLB dementia with Lewy bodies; FTLD frontotemporal lobar degeneration-related syndrome, MCI mild cognitive impairment
aDue to specific particularities of the clinical and cognitive assessment in the context of intellectual disability, participants with Down syndrome were excluded from the prognostic analysis