Table 5.
Associations of mosaicism with CSF biomarkers.a
| Biomarker | Full trisomy (N = 44) | Mosaic (N = 6) | β(p) |
|---|---|---|---|
| Aβ40 (pg/mL) | |||
| Mean (SD) | 10,618 (3429.5) | 11,449 (2870.4) | 107.77 (0.94) |
| Range | 4921–19,337 | 8597–16,723 | |
| Aβ42 (pg/mL) | |||
| Mean (SD) | 537.4 (192.7) | 577.3 (107.0) | 0.03 (0.93) |
| Range | 220–1101 | 470–730 | |
| Total tau (pg/mL) | |||
| Mean (SD) | 581.1 (460.1) | 626.8 (273.9) | 0.106 (0.43) |
| Range | 86–2000 | 204–975 | |
| p-tau181 (pg/mL) | |||
| Mean (SD) | 68.8 (65) | 73.1 (45.6) | 0.096 (0.43) |
| Range | 8.7–323.7 | 24.6–146.9 | |
| NfL (pg/mL) | |||
| Mean (SD) | 1080.3 (1001.7) | 1268.7 (827.1) | 0.10 (0.29) |
| Range | 203–6056 | 246–2674 |
a
Only participants with data for the biomarkers were included. Models were adjusted for sex assigned at birth, age, dementia status, and level of premorbid intellectual disability. All biomarkers except Aβ40 were log normalized before analysis.