Table 3.
Complete characteristics of each individual SERPINA5 p.E228Q variant carrier in our series.
| ID | Neuropathologic diagnosis | Sex | Age at death (yr) | FHx of cognitive deficits | Brain weight (grams) | Lewy body pathology | TDP-43 pathology | Cerebrovascular disease |
|---|---|---|---|---|---|---|---|---|
| 1* | AD/VaD/ALB | M | 75 | Yes | 1020 | ALB | Yes | Yes |
| 2 | AD/VaD | F | 72 | No | 920 | None | No | Yes |
| 3 | AD/TLBD/HpScl | M | 82 | Yes | 1040 | TLBD | Yes | No |
| 4 | AD/ALB | F | 89 | No | 960 | ALB | No | Yes |
| 5 | AD/ALB | M | 86 | No | 1100 | ALB | Yes | No |
| 6 | AD/ALB/HpScl/VaD | M | 86 | No | 1300 | ALB | Yes | Yes |
AD = Alzheimer’s disease, ALB = amygdala predominant Lewy bodies, FHx = family history, HpScl = hippocampal sclerosis of a TDP-43 etiology, TLBD = transitional Lewy body disease.
*
Identified in discovery cohort.