Table 1.
Sample characteristics
| Genetically defined AD | AD focused | SVD focused | Genetically defined SVD | |||
|---|---|---|---|---|---|---|
| DIAN (n=77) | DELCODE (n=89) | ADNI (n=53) | UVCI (n=39) | SVCI (n=39) | CADASIL (n=68) | |
| Age, years | 42 (14) | 72 (9) | 78 (13) | 74 (12) | 79 (10) | 55 (11) |
| Female, n (%) | 40 (52) | 36 (40) | 25 (47) | 13 (33) | 28 (72) | 44 (65) |
| Diagnosis, n (%) HC, SCD, MCI, dementia | na | 4 (4), 37 (42), 33 (37), 15 (17) | 22 (42), na, 23 (43), 8 (15) | 0 (0), 3 (8), 18 (46), 18 (46) | 0 (0), na, 22 (56), 17 (44) | na |
| CDR, n (%) 0, 0.5, 1, 2, 3 | 38 (49), 29 (38), 9 (12), 1 (1), 0 (0) | 29 (33), 52 (59), 7 (8), 0 (0), 0 (0)a | 22 (42), 23 (43), 6 (11), 2 (4), 0 (0) | 1 (3), 30 (77), 8 (20), 0 (0), 0 (0) | 0 (0), 26 (67), 7 (18), 6 (15), 0 (0) | 57 (84), 9 (13), 1 (1), 1 (1), 0 (0) |
| Aβ-positive, n (%) | 46 (60) | 44 (49) | 37 (70) | 22 (56) | 19 (49) | na |
| DTI | ||||||
| FAu, mm2/s | 0.45 (0.03) [0.38, 0.49] | 0.46 (0.03) [0.36, 0.52] | 0.45 (0.04) [0.38, 0.50] | 0.44 (0.04) [0.36, 0.48] | 0.42 (0.04) [0.35, 0.50] | 0.40 (0.06) [0.27, 0.49] |
| MDu, 10−4 mm2/s | 7.84 (0.64) [7.27, 9.31] | 7.68 (0.59) [6.71, 9.72] | 8.21 (0.63) [7.35, 9.77] | 8.05 (0.82) [7.23, 9.72] | 9.66 (0.76) [8.48, 11.0] | 9.40 (1.61) [7.79, 12.89] |
| FAt, mm2/s | 0.55 (0.02) [0.52, 0.58] | 0.56 (0.02) [0.52, 0.60] | 0.57 (0.02) [0.54, 0.60] | 0.56 (0.02) [0.52, 0.57] | 0.59 (0.01) [0.56, 0.63] | 0.55 (0.02) [0.50, 0.59] |
| MDt, 10−4mm2/s | 5.92 (0.07) [5.80, 6.01] | 5.97 (0.10) [5.51, 6.14] | 6.01 (0.63) [5.94, 6.09] | 5.82 (0.15) [5.63, 5.99] | 6.00 (0.04) [5.91, 6.12] | 5.97 (0.03) [5.89, 6.03] |
| FW, mm2/s | 0.18 (0.05) [0.14, 0.28] | 0.16 (0.04) [0.11, 0.29] | 0.20 (0.05) [0.13, 0.31] | 0.22 (0.06) [0.16, 0.35] | 0.25 (0.04) [0.17, 0.31] | 0.29 (0.11) [0.17, 0.51] |
| AD markers | ||||||
| CSF | ||||||
| Aβ 40, ng/L | 7634 (4516) [2215, 15622] | 7942 (3229) [3721, 13358] | - | na | - | - |
| Aβ 42, ng/L | 436 (332) [174, 1424] | 498 (380) [183, 1317] | - | 619 (279) [363, 1641] | - | - |
| T-tau, ng/L | 97 (132) [8, 563] | 425 (369) [98, 1477] | - | 524 (368) [140, 1274] | - | - |
| P-tau, ng/L | 56 (66) [14, 163] | 51 (39) [16, 192] | - | 67 (47) [19, 166] | - | - |
| PET | ||||||
| [18F]-florbetapir SUVR | - | - | 1.18 (0.36) [0.90, 1.70] | - | na | - |
| [18F]-florbetaben SUVR | - | - | na | - | 1.38 (0.49) [1.11, 2.17] | - |
| [18F]AV-1451 SUVR | - | - | 1.10 (0.13) [0.86, 1.67] | - | 1.11 (0.16) [0.89, 1.60] | - |
| SVD markers | ||||||
| WMHvol, ml | 2.22 (3.05) [0.00, 30.47] | 2.78 (5.36) [0.03, 34.50] | 3.35 (8.29) [0.00, 77.24] | 15.72 (1.85) [1.34, 67.27] | 32.19 (21.03) [10.48, 71.20] | 71.27 (73.74) [1.09, 257.74] |
| SVD score, n (%) 0, 1, 2, 3, 4 | 67 (87), 9 (12), 1 (1), 0 (0), 0 (0) | 23 (26), 33 (37), 28 (31), 3 (3), 2 (2) | 8 (15), 17 (32), 18 (34), 8 (15), 2 (4) | 4 (10), 15 (39), 11 (28), 6 (15), 3 (8) | 0 (0), 0 (0), 0 (0), 0 (0), 39 (100) | 0 (0), 16 (24), 19 (28), 17 (25), 16 (24) |
For numeric variables median (interquartile range) [min, max] is shown, except for age.
DELCODE: CDR of 1 subject missing;
AD, Alzheimer’s disease; CDR, clinical dementia rating; DTI, diffusion tensor imaging; FAu, uncorrected fractional anisotropy; FAt, free water corrected tissue compartment of fractional anisotropy; FW, free water content; HC, healthy control; MCI, mild cognitive impairment; MDu, uncorrected mean diffusivity; MDt, free water corrected tissue compartment of mean diffusivity; na, not available; p-tau, phosphorylated- tau181; SCD, subjective cognitive decline; SUVR, standardised uptake value ratio; SVD, small vessel disease; SVD score, total small vessel disease score; t-tau, total tau; WMHvol, white matter hyperintensity volume.