Table 1.
Descriptive statistics of the current study cohort.
| Study cohort(n = 25) | Pre-symptomatic mutation carriers(n = 15) | Symptomatic mutation carriers(n = 10) | |
|---|---|---|---|
| Mean age ± SD [y] (range) | 45 ± 13 (28–71) | 36 ± 6 (28–47) | 59 ± 7 (49–71) |
| Sex (M/F) | 9/16 | 4/11 | 5/5 |
| Median uncorrected PSMD [10−4 mm2/s] (IQR) | 3.20 (2.40–4.60) | 2.40 (2.30–2.79) | 4.70 (4.45–5.43) |
| Median healthy age corrected PSMD [10−4 mm2/s] (IQR) | 0.71 (−0.07–1.93) | 0.08 (−0.07–0.47) | 2.00 (1.58–2.26) |
| Mean MD score ± SD [10−4 mm2/s] (range) | 7.83 ± 0.65 (6.79–9.31) | 7.40 ± 0.42 (6.79–8.20) | 8.47 ± 0.49 (7.76–9.31) |
| Mean FA score ± SD [mm2/s] (range) | 0.37 ± 0.05 (0.27–0.44) | 0.40 ± 0.03 (0.35–0.44) | 0.32 ± 0.04 (0.27–0.39) |
| Mean amplitude of BOLD response ± SD [%] (range) | 1.04 ± 0.69 (0.26–2.93) | 1.41 ± 0.64 (0.48–2.93) | 0.48 ± 0.18 (0.26–0.76) |
| Mean TTP of BOLD response ± SD [s] (range) a | 15.93 ± 6.29 (4.77–28.66) | 13.49 ± 4.57 (4.77–23.08) | 23.27 ± 5.02 (17.43–28.66) |
| Mean TTB of BOLD response ± SD [s] (range) a | 19.40 ± 8.54 (8.74–37.68) | 15.66 ± 5.21 (8.74–24.53) | 30.63 ± 6.46 (25.19–37.68) |
| Median total CAA cSVD score (IQR) b | 1 (1–4) | 1 (0–1) | 5 (4–5) |
| 0 | 4 | 4 | 0 |
| 1 | 6 | 6 | 0 |
| 2 | 1 | 1 | 0 |
| 3 | 1 | 0 | 1 |
| 4 | 3 | 0 | 3 |
| 5 | 5 | 0 | 5 |
| 6 | 0 | 0 | 0 |
PSMD: Peak Width of Skeletonized Mean Diffusivity; IQR: interquartile range; MD: mean diffusivity; FA: fractional anisotropy; BOLD: Blood-Oxygen-Level-Dependent; TTP: time-to-peak; TTB: time-to-baseline; CAA: Cerebral Amyloid Angiopathy; cSVD: cerebral Small Vessel Disease.
aFive missing values in the study cohort and symptomatic D-CAA mutation carriers.
bFive, four, and one missing values in the total study cohort, pre-symptomatic, and symptomatic D-CAA mutation carriers, respectively.