Table 1. Characteristics of study participants at baseline.
Continuous measures are presented as the mean ± standard deviation. For each type of measure, the number of individuals with at least one measurement is provided. The significance of the difference between the MC and NC was calculated by linear mixed effects models with random intercepts for familial clusters.
| Characteristic | All (n=380) |
Mutation carrier (MC) (n=235) |
Mutation Non- carrier (NC) (n=145) |
p-value |
|---|---|---|---|---|
| Estimated years from symptom onset | −8.2 ± 11.6 | −7.6 ± 10.8 | −9.2 ± 12.7 | N.S. |
| Participants with longitudinal CSF, n (%) | 160 (42%) | 105 (44%) | 55 (38%) | N.S. |
| Interval between longitudinal LPs (years) | 2.9 ± 1.4 | 2.8 ± 1.4 | 3.20 ± 1.5 | N.S. |
| Age (years) | 38.6 ± 11.1 | 38.4 ± 10.4 | 38.8 ± 12.1 | N.S. |
| Sex, n (% female) | 216 (57%) | 127 (54%) | 89 (61%) | N.S. |
| Education (years) | 14.6 ± 2.9 | 14.3 ± 3.1 | 14.9 ± 2.5 | N.S. |
| Presence of APOE ε4 allele, n (%) | 121 (32%) | 72 (31%) | 49 (34%) | N.S. |
| Established CSF biomarkers (n = 380) | ||||
| Aβ42 (pg/ml) | 1123 ± 605 | 961 ± 623 | 1385 ± 471 | <0.0001 |
| Aβ42/Aβ40 | 0.07 ± 0.03 | 0.06 ± 0.03 | 0.09 ± 0.01 | <0.0001 |
| tTau (pg/ml) | 243.6 ± 141.9 | 287.9 ± 159.1 | 171.6 ± 58.5 | <0.0001 |
| pTau (pg/ml) | 24.5 ± 19.8 | 30.8 ± 22.7 | 14.2 ± 5.3 | <0.0001 |
| Emerging CSF biomarkers (n = 358) | ||||
| Ng (pg/ml) | 2008 ± 1096 | 2269 ± 1189 | 1572 ± 741 | <0.0001 |
| SNAP-25 (pg/ml) | 4.3 ± 1.8 | 4.6 ± 1.9 | 3.7 ± 1.3 | <0.0001 |
| VILIP-1 (pg/ml) | 158.2 ± 71.5 | 173.4 ± 77.9 | 132.9 ± 50.2 | <0.0001 |
| YKL-40 (ng/ml) | 159.3 ± 83.4 | 173.1 ± 88.7 | 136.4 ± 68.2 | <0.0001 |
| Amyloid PET (n = 319) | ||||
| Amyloid PET SUVR | 1.67 ± 1.00 | 2.06 ± 1.12 | 1.06 ± 0.17 | <0.0001 |
| Structural brain measures (n = 356) | ||||
| Hippocampal volume (mm3) | 8492 ± 1054 | 8310 ± 1201 | 8779 ± 676 | <0.0001 |
| Entorhinal cortical thickness (mm) | 3.44 ± 0.34 | 3.43 ± 0.35 | 3.46 ± 0.32 | N.S. |
| Precuneus thickness (mm) | 2.31 ± 0.2 | 2.27 ± 0.23 | 2.38 ± 0.14 | <0.0001 |
| Clinical measures (n = 380) | ||||
| CDR>0, n (%) | 89 (23%) | 83 (35%) | 6 (4%) | <0.0001 |
| CDR-SB | 0.86 ± 2.33 | 1.37 ± 2.84 | 0.04 ± 0.24 | <0.0001 |
| Cognitive measures (n = 380) | ||||
| DIAN cognitive composite | −0.37 ± 0.92 | −0.60 ± 1.03 | −0.02 ± 0.59 | <0.0001 |
| MMSE | 27.6 ± 4.4 | 26.7 ± 5.3 | 29.1 ± 1.2 | <0.0001 |
Abbreviations: Aβ40, amyloid-β 40; Aβ42, amyloid-β 42; CDR, Clinical Dementia Rating; CDR-SB, Clinical Dementia Rating, Sum of Boxes; CSF, cerebrospinal fluid; DIAN, Dominantly Inherited Alzheimer Network; LP, lumbar puncture; MMSE, Mini-Mental State Examination; Ng, neurogranin; N.S., not significant; PET, positron emission tomography; pTau, phosphorylated tau181; SNAP-25, synaptosomal-associated protein-25; SUVR, standardized uptake value ratio; tTau, total tau; VILIP-1, visinin-like protein 1; YKL-40, chitinase-3-like protein 1.