Table 1 ∣.
Baseline demographic information for the participants included in the DIAN-OBS data release 15 (n = 534)
| Mutation non-carriers | Mutation carriers: asymptomatic |
Mutation carriers: symptomatic |
P value | Effect size | ||
|---|---|---|---|---|---|---|
| Cohort | n | 216 | 214 | 104 | – | – |
| Age in years (s.e.) | 37.10 (0.75) | 33.75 (0.61) | 45.14 (0.97) | 9.88 × 10−19 | 0.15 | |
| Sex: n (%) female | 123 (57%) | 120 (56%) | 58 (56%) | 0.97 | 0.01 | |
| Handedness: n (%) right | 187 (87%) | 188 (88%) | 94 (90%) | 0.62 | 0.04 | |
| Education in years (s.e.) | 14.77 (0.20) | 14.78 (0.19) | 13.41 (0.34) | 5.8 × 10−4 | 0.03 | |
| n (%) White | 196 (91%) | 188 (88%) | 90 (87%) | 0.46 | 0.05 | |
| Clinical | EYO (s.e.) | −10.49 (0.79) | −14.30 (0.61) | 2.79 (0.49) | – | – |
| CDR: n (%) unimpaired | 204 (95%) | 214 (100%) | 0 (0%) | – | – | |
| Genetics | n (%) PSEN1 | – | 150 (70%) | 82 (79%) | ||
| n (%) PSEN1 pre-codon 200** | – | 53 (35%) | 30 (37%) | |||
| n (%) PSEN2 | – | 24 (11%) | 1 (1%) | |||
| n (%) APP | – | 40 (19%) | 21 (20%) | |||
| n (%) APOE-ε4* | 66 (30%) | 63 (29%) | 27 (26%) | 0.70 | 0.04 | |
| Cognition | MMSE (s.e.) | 29.63 (0.45) | 29.36 (0.32) | 23.68 (0.95) | 2.03 × 10−10 | 0.11 |
| General cognition*** (s.e.) | 0.04 (0.06) | 0.11 (0.08) | −1.01 (0.19) | 8.65 × 10−11 | 0.12 |
All P values are relative to the highest-level model, with α = 0.05. For age, all follow-up pairwise comparisons are significant after Bonferroni adjustment for multiple comparisons, for years of education, MMSE and general cognition; only P values for contrasts including symptomatic mutation carriers remain significant after Bonferroni adjustment for multiple comparisons.
Pre-codon 200 values represent the percentage of PSEN1 mutation carriers with mutations occurring before the 200th codon of PSEN1.
General cognition depicts averaged z-scores across four cognitive tests, computed relative to unimpaired mutation non-carriers with EYO between −10 and 0. Here, participants are categorized into three groups representing ADAD mutation-carrying status and level of cognitive impairment. All depicted variables represent mean values with s.e. in parentheses or percentages. Statistical tests were used to compare distributions of these characteristics across these three groups and are one-way ANOVAs or χ2 tests, where appropriate. Effect sizes represent partial η2 or φ, as appropriate. More detailed information regarding self-identified race is reported in Extended Data Fig. 1.