Table 3.
Published data on neurofilaments in pre-symptomatic neurodegenerative diseases
| Disease | Genotypes with Data Available | Biomarker | Matrix | Data Type | N | Compared to Controls | Pre-symptomatic Longitudinal Increase | Reference |
|---|---|---|---|---|---|---|---|---|
| HD | HTT | NfH | Plasma | Cross-sectional | 29 | No difference | -- | Wild et al 24 |
| HD | HTT | NfL | Plasma | Cross-sectional | 104 | Higher | -- | Byrne et al 8 |
| HD | HTT | NfL | Plasma | Longitudinal | 97 | -- | Yes | Byrne et al 8 |
| HD | HTT | NfL | CSF | Cross-sectional | 32 | Higher | -- | Vinther-Jensen et al 9 |
| AD | PSEN1, APP | NfL | Serum | Cross-sectional | 19 | Higher | -- | Weston et al 4 |
| AD | PESN1, APP | NfL | Serum | Longitudinal | 25 | -- | Yes | Weston et al 3 |
| AD | PSEN1, PSEN2, APP | NfL | Serum | Longitudinal | 78 | -- | Yes | Preische et al 2 |
| FTD | MAPT, GRN, C9orf72 | NfL | Serum | Cross-sectional | 44 | No difference | -- | Meeter et al 7 |
| FTD | CHMP2B | NfL | CSF | Cross-sectional | 6 | No difference (after age adjustment) | -- | Rostgaard et al 5 |
| FTD | MAPT, GRN, C9orf72 | NfL | CSF | Cross-sectional | 40 | No difference | -- | Meeter et al 7 |
| FTD | MAPT, GRN, C9orf72 | NfL | CSF | Cross-sectional | 8 | No difference | -- | Scherling et al 6 |
| FTD | GRN | NfL | CSF | Longitudinal | 2 | -- | Unclear | Meeter et al 7 |
| FTD/ALS | C9orf72 | NfL | CSF | Cross-sectional | 25 | No difference | -- | Meeter et al 25 |
| FTD/ALS | C9orf72 | NfL | CSF | Longitudinal | 2 | -- | No | Meeter et al 25 |
| ALS | C9orf72, SOD, TARDBP, FUS | NfL | CSF | Cross-sectional | 7 | No difference | -- | Weydt et al 26 |
| ALS | C9orf72, SOD, TARDBP, FUS | pNfH | CSF | Cross-sectional | 9 | No difference | -- | Weydt et al 26 |
| ALS | C9orf72, SOD, TARDBP, FUS | NfL | Blood | Cross-sectional | 11 | No difference | -- | Weydt et al 26 |
| ALS | SOD1, FUS, C9orf72 | NfL | Serum | Cross-sectional | 94 | No difference | -- | Benatar et al 11 |
| ALS | SOD1, FUS | NfL | Serum | Longitudinal | 59 | -- | Yes | Benatar et al 11 |
| ALS | SOD1, FUS, C9orf72 | NfL | CSF | Cross-sectional | 63 | No difference | -- | Benatar et al 11 |
| ALS | SOD1, FUS | NfL | CSF | Longitudinal | 32 | -- | Yes | Benatar et al 11 |
| ALS | C9orf72 | pNfH | CSF | Cross-sectional | 8 | No difference | -- | Poesen et al 27 |
HD – Huntington’s disease; AD – Alzheimer’s disease; FTD – frontotemporal dementia; NfH – Neurofilament Heavy; pNfH – Phosphorylated neurofilament heavy; NfL – Neurofilament light; CSF – cerebrospinal fluid