Table 1 Baseline demographics and sample characteristics of cognitively intact DIAD mutation carriers and non-carriers
DIAD mutation non-carriers (n = 102) | DIAD mutation carriers (n = 119) | p value | |
|---|---|---|---|
Age, years, mean (SD) | 38.99 (10.75) | 36.45 (9.24) | 0.060 |
Male, n (%) | 44 (43.13) | 58 (48.73) | 0.405 |
Education, years, mean (SD) | 15.15 (2.88) | 14.92 (3.05) | 0.566 |
APOE carrier status | 0.600 | ||
APOE ε2/ε2, ε2/ε3, ε3/ε3 carriers, n (%) | 72 (70.06) | 83 (69.7) | |
APOE ε2/ε4 carriers, n (%) | 6 (5.88) | 4 (3.36) | |
APOE ε3/ε4, ε4/ε4 carriers, n (%) | 24 (23.52) | 32 (26.89) | |
Parental age of onset, years, mean (SD) | 46.85 (6.37) | 48.32 (7.25) | 0.179 |
EYO, years, mean (SD) | −9.40 (11.92) | −11.51 (9.40) | 0.078 |
DIAD mutation type | 0.863 | ||
APP, n (%) | 20 (19.60) | 20 (16.80) | |
PS1, n (%) | 69 (67.65) | 83 (69.75) | |
PS2, n (%) | 13 (12.75) | 16 (13.45) | |
MMSE, mean, (SD) | 29.39 (0.83) | 29.08 (1.19) | 0.052 |
CSF Aβ1–42, mean, pg/ml (SD)^ | 461.14 (138.27) | 363.66 (166.72) | < 0.001 |
CSF p-tau181, mean, pg/ml (SD)† | 29.64 (11.96) | 53.44 (30.65) | < 0.001 |
CSF t-tau, mean, pg/ml (SD)† | 54.86 (25.47) | 92.06 (62.16) | < 0.001 |