Baseline demographic and clinical characteristics of study cohort by genetic group
| GRN mutation carriers | MAPT mutation carriers | C9orf72 mutation carriers | Controls | |
| N | 187 | 77 | 193 | 268 |
| Age (years) | 50.8 (13.6) | 45.5 (13.8) | 51.5 (13.8) | 46.4 (12.9) |
| Sex (% female) | 60.4 | 54.5 | 50.8 | 58.6 |
| Education (years) | 14.0 (3.7) | 14.1 (3.4) | 13.9 (3.3) | 14.5 (3.3) |
| CDR | ||||
| CDR Sum of Boxes | 1.9 (4.1) | 2.4 (4.4) | 3.1 (4.9) | 0.1 (0.4) |
| CDR+NACC FTLD Sum of Boxes | 2.6 (5.2) | 3.2 (5.6) | 4.2 (6.2) | 0.2 (0.6) |
| CDR+NACC-FTLD-Global (% of participants) | ||||
| 0 | 61.0 | 54.5 | 47.7 | 80.2 |
| 0.5 | 13.4 | 16.9 | 16.6 | 17.5 |
| 1 | 10.2 | 9.1 | 9.3 | 2.2 |
| 2 | 8.0 | 10.4 | 13.5 | 0.0 |
| 3 | 7.5 | 9.1 | 13.0 | 0.0 |
| FRS | ||||
| Percentage score (0–100) | 83.4 (27.0) | 78.2 (28.8) | 71.0 (34.0) | 96.2 (7.7) |
| Severity category (% of participants) | ||||
| Asymptomatic | 48.1 | 37.7 | 29.0 | 61.6 |
| Very mild | 7.5 | 7.8 | 6.7 | 10.8 |
| Mild | 19.3 | 22.1 | 24.9 | 23.5 |
| Moderate | 13.9 | 13.0 | 12.4 | 4.1 |
| Severe | 8.6 | 15.6 | 18.1 | 0.0 |
| Very severe | 2.7 | 3.9 | 7.8 | 0.0 |
| Profound | 0.0 | 0.0 | 1.0 | 0.0 |
Values are mean (SD) unless stated.
CDR+NACC FTLD= CDR Dementia Staging Instrument plus Behaviour and Language domains from the NACC FTLD module.
CDR, Clinical Dementia Rating; FRS, Frontotemporal dementia Rating Scale; FTLD, Frontotemporal Lobar Degeneration; MAPT, microtubule-associated protein tau; NACC, National Alzheimer’s Disease Coordinating Center.