Table 2.
Proposed neurofilament light chain cutoff levels.
| Study (Ref.) |
Sample Type |
Assay | NfL Cutoff Level (pg/mL) |
Disease Stage | Sensitivity (%) |
Specificity (%) |
|---|---|---|---|---|---|---|
| Loser et al., 2022 [24] | Serum | Simoa | 11.7 | Asymptomatic and symptomatic | 85.7 | 100 |
| Maia et al., 2020 [33] | Plasma | Simoa | 10.6 | PND 0 and PND ≥ I | 96.2 | 93.8 |
| 10.6 | PND 0 and PND I | 92.3 | 93.8 | |||
| 66.9 | PND I and PND ≥ II (cohort #1) | 61.5 | 92.3 | |||
| 75.7 | PND I and PND ≥ II (cohort #2) | 84.6 | 80.0 | |||
| Ticau et al., 2021 [34] | Plasma | Simoa | 37 | Healthy controls and ATTRv-PNP | 84.9 | 94.4 |
| Romano et al., 2024 [39] | Serum | Ella | 37.0 | Healthy controls and ATTRv-PNP | 81.4 | 98.0 |
| 37.0 | Healthy controls and PND I | 63.2 | 98.0 | |||
| 37.1 | Asymptomatic carriers and symptomatic ATTRv patients | 81.4 | 100 | |||
| 37.1 | Asymptomatic carriers and PND I | 63.2 | 100 | |||
| 57.70 | PND I and PND ≥ II | 82.4 | 73.7 | |||
| González-Moreno et al., 2024 [40] | Serum | ELISA | 93.55 | Asymptomatic V30M TTRv carriers and ATTRv V30M patients | 79 | 87 |
| 92.6 | Healthy controls and ATTRv V30M patients | 79 | 80 | |||
| Carroll et al., 2024 [41] | Serum | Simoa | 52.2 | PND ≤ I and PND > II | 100 | 55.5 |
| 64.5 | Asymptomatic patients and symptomatic patients or sensorimotor converters |
92.0 | 88.5 | |||
| 88.9 | Asymptomatic patients and symptomatic patients and all converters |
62.9 | 96.2 |
ATTRv: hereditary transthyretin amyloid; ELISA: enzyme-linked immunosorbent assay; Ella: name of a microfluidic cartridge-based immunoassay platform; NfL: neurofilament light chain; PND: polyneuropathy disability; PNP: polyneuropathy; Simoa: single-molecule array; TTRv: transthyretin gene variant; and V30M: TTRVal30Met p.(Val50Met).