Data availability and characteristics
| Symptomatic | Presymptomatic | Non-carriers | |||
| Total | bvFTD | nfvPPA | |||
| N | |||||
| Subjects (% female) | 35* (60.0%) | 17 (47.1%) | 16 (75%) | 56 (69.6%) | 35 (54.4%) |
| Rotterdam | 11 | 8 | 3 | 33 | 34 |
| Brescia | 22* | 9 | 11 | 17 | 0 |
| Barcelona | 2 | 0 | 2 | 6 | 1 |
| Data availability | |||||
| Serum NfL | 91.7% | 88.9% | 93.8% | 69.64% | 91.67% |
| Cognitive assessment | 91.7% | 88.9% | 93.8% | 98.21% | 91.67% |
| T1-weighted MRI | 44.4% | 38.9% | 50.0% | 96.4% | 88.6% |
| DTI | 50.0% | 44.4% | 56.3% | 92.9% | 91.4% |
| Sample characteristics | |||||
| Age (years) | 62.57±6.72† | 62.93±6.11‡ | 61.78±7.78§ | 51.52±11.42 | 55.15±12.55 |
| Education (years) | 10.61±4.59† | 10.27±4.91‡ | 11.79±4.02 | 13.79±3.27 | 13.21±2.84 |
| TIV (litres) | 1.44±0.17 | 1.50±0.17 | 1.42±0.14 | 1.39±0.15 | 1.40±0.14 |
| NPI | 23.77±28.38† | 28.90±30.64‡,¶ | 6.67±6.03¶ | 1.87±3.37 | 2.24±4.32 |
| FRS | 56.50±30.43† | 48.86±29.91‡ | 67.20±30.96§ | 97.27±10.11 | 95.47±7.45 |
| FTD-CDR-SOB | 7.64±6.52† | 9.68±7.47‡,¶ | 5.25±4.37§,¶ | 0.04±0.21 | 0.00±0.00 |
| Disease duration (years) | 2.45±2.01 | 2.37±1.92 | 2.48±2.29 | N/A | N/A |
*The two remaining patients presented with cortico-basal syndrome.
†Significant difference between symptomatic carriers and presymptomatic carriers as well as non-carriers.
‡Significant difference between bvFTD patients and presymptomatic patients as well as non-carriers.
§Significant difference between nfvPPA patients and presymptomatic patients as well as non-carriers.
¶Significant difference between bvFTD patients and nfvPPA patients.
bvFTD, behavioural variant frontotemporal dementia; DTI, diffusion tensor imaging; FRS, Frontotemporal Dementia Rating Scale; FTD-CDR-SOB, Frontotemporal Lobar Degeneration Clinical Dementia Rating Scale Sum of Boxes; mean±SD. GM, grey matter; NfL, neurofilament light chain; nfvPPA, non-fluent variant primary progressive aphasia; NPI, Neuropsychiatric Inventory; TIV, total intracranial volume.