TABLE 2.
Characteristics of the symptomatic study participants and converters at baseline α‐syn SAA assessment, numbers of consecutive α‐syn SAA assessments per participant, and information if an autopsy was performed.
| Participant # | α‐syn SAA result | Consecutive α‐syn SAA assessments, [n] | Sex | Time point of first and last LP relative to symptom onset, [years] | Affected gene | Autopsy |
|---|---|---|---|---|---|---|
| Symptomatic participants | ||||||
| 1 | Positive | 1 | m | 7 | PSEN1 | no |
| 2 | Positive | 4 | m | 5, 7 | APP | no |
| 3 | Positive | 1 | m | 7 | PSEN1 | yes |
| 4 | Negative | 1 | m | 2 | PSEN1 | no |
| 5 | Negative | 1 | m | 7 | PSEN1 | no |
| 6 | Negative | 1 | m | 4 | PSEN1 | no |
| 7 | Negative | 1 | f | 3 | PSEN1 | no |
| 8 | Negative | 3 | m | 3, 4 | APP | no |
| 9 | Negative | 4 | f | 3, 8 | PSEN1 | no |
| 10 | Negative | 4 | m | 3, 8 | PSEN1 | no |
| 11 | Negative | 3 | m | 0, 3 | APP | no |
| 12 | Negative | 2 | f | 2, 3 | PSEN1 | no |
| 13 | Negative | 2 | f | 5, 6 | APP | no |
| 14 | Negative | 2 | f | 5, 6 | PSEN1 | no |
| 15 | Negative | 2 | m | 4, 6 | APP | no |
| 16 | Negative | 1 | m | 6 | PSEN1 | yes |
| 17 | Negative | 4 | m | 1, 4 | PSEN1 | yes |
| 18 | Negative | 2 | f | 2, 3 | PSEN1 | yes |
| 19 | Negative | 4 | f | 2, 7 | PSEN1 | yes |
| 20 | Negative | 2 | f | 1, 2 | PSEN1 | yes |
| 21 | Negative | 1 | m | 3 | PSEN1 | yes |
| 22 | Negative | 2 | m | 7, 8 | APP | yes |
| 23 | Negative | 2 | f | 2,3 | PSEN1 | yes |
| 24 | Negative | 1 | f | 8 | PSEN1 | yes |
| 25 | Negative | 1 | m | 5 | PSEN1 | yes |
| Converters | ||||||
| 26 | Negative | 2 | f | –1, 1 | APP | no |
| 27 | Negative | 2 | f | –1, 2 | PSEN1 | yes |
Abbreviations: APP, gene encoding the amyloid precursor protein; f, female; LP, lumbar puncture; m, male; PSEN1, gene encoding presenilin 1; α‐syn SAA, α‐synuclein seed amplification assay.