Table 1.
Demographic, clinical, and biomarker data in mutation carriers and non-carriers.
| Mutation non-carriers | Mutation carriers | Total sample | Statistic | ||
|---|---|---|---|---|---|
| N | 115 | 184 | 299 | ||
| Age, mean years ± SD | 39.95 ± 9.93 | 39.09 ± 10.29 | 39.03 ± 10.13 | t=0.115, p=0.908 | |
| EYO, mean years ± SD | −7.86 ± 11.57 | −7.39 ± 9.51 | −7.57 ± 10.34 | t=0.385, p=0.703 | |
| Women, n(%) | 65 (56.5%) | 104 (56.5%) | 169 (56.5%) | χ2=0.00, p=1.00 | |
| Vascular factors | Hypertension | 17 (15%) | 18 (10%) | 35 (12%) | χ2=1.3, p=0.26 |
| Hypercholesterolemia | 20 (17%) | 28 (15%) | 48 (16%) | χ2=0.09, p=0.77 | |
| Diabetes | 2 (1.7%) | 3 (1.6%) | 5 (1.7%) | χ2=0.005, p=0.94 | |
| Smoking | 49 (43%) | 74 (40%) | 123 (41%) | χ2=0.08, p=0.77 | |
| CDR | 0 | 107 (93%) | 114 (62%) | 221 (74%) | χ2=37.31, p<0.001 |
| 0.5 | 8 (7%) | 43 (23%) | 51 (17%) | ||
| 1 | 0 (0%) | 20 (11%) | 20 (6.67%) | ||
| 2 | 0 (0%) | 5 (3%) | 5 (1.67%) | ||
| 3 | 0 (0%) | 2 (1%) | 2 (0.67%) | ||
| APOE-epsiv;4+ | 33 (29%) | 56 (30.4%) | 89 (30%) | χ2=0.102, p=0.749 | |
| WMH, mean IHS ± SD§ | Frontal | 0.15 ± 0.34 | 0.47 ± 2.92 | 0.35 ± 2.30 | t=1.44, p=0.151 |
| Temporal | 0.02 ± 0.11 | 0.12 ± 0.48 | 0.08 ± 0.39 | t=2.62, p=0.009 | |
| Parietal | 0.06 ± 0.25 | 0.41 ± 2.29 | 0.27 ± 1.811 | t=2.05, p=0.042 | |
| Occipital | 0.09 ± 0.16 | 0.33 ± 0.77 | 0.24 ± 0.62 | t=4.08, p<0.001 | |
| Total | 0.39 ± 0.73 | 1.42 ± 6.02 | 1.03 ± 4.77 | t=2.29, p=0.023 | |
| CSF Aβ1-42*§ | 411.40 ± 113.49 | 304.50 ± 156.85 | 343.93 ± 151.25 | t=6.14, p<0.001 | |
| CSF ptau181¥§ | 29.93 ± 10.18 | 65.58 ± 37.79 | 52.41 ± 35.12 | t=11.14, p<0.001 | |
| CSF Aβ1-42 :tau ratio | 8.123 ± 4.23 | 4.26 ± 4.02 | 5.68 ± 4.49 | t=7.11, p<0.001 | |
§
Equal variances not assumed because Levene’s Test for Equality of Variances was significant (p<0.01)
*
Available for n=244
¥
Available for n=249
EYO=estimated years to symptom onset, CDR=Clinical Dementia Rating scale, WMH=white matter hyperintensities, IHS=inverse hyperbolic sine