Table 1 Participant characteristics according to phenotypic groups
| Â | Median (minimum, maximum) or No. (%) of participants | |||||||
|---|---|---|---|---|---|---|---|---|
Variable | Controls (N = 161) | PreSx (N = 127) | bvFTD (N = 308) | nfvPPA (N = 76) | svPPA (N = 83) | CBS (N = 92) | PSP-RS (N = 143) | MBCI (N = 67) |
Age at baseline (years) | 53 (40, 80) | 49 (40, 80) | 62 (32, 85) | 70 (49, 86) | 66 (50, 88) | 68 (40, 87) | 69 (49, 82) | 60 (30, 82) |
Sex (Male) | 55 (34.2%) | 64 (50.4%) | 181 (58.8%) | 34 (44.7%) | 42 (50.6%) | 48 (52.2%) | 75 (52.4%) | 34 (50.7%) |
Age at symptom onset (years) | N/A | N/A | 58 (26, 80) | 65 (44, 81) | 60 (38, 81) | 68 (40, 87) | 69 (49, 82) | 60 (30, 82) |
Unknown | N/A | N/A | 2 | 0 | 1 | 0 | 0 | 0 |
Symptom duration (years) | N/A | N/A | 4 (0, 32) | 4 (1, 12) | 5 (1, 17) | 4 (0, 32) | 5 (1, 20) | 2 (0, 54) |
Unknown | N/A | N/A | 2 | 0 | 1 | 0 | 14 | 2 |
BMI | 27.8 (18.3, 53.2) | 25.9 (16.5, 42.3) | 27.5 (12.6, 58.7) | 26.0 (12.4, 35.0) | 25.7 (16.6, 39.7) | 26.1 (17.5, 40.5) | 25.8 (17.7, 41.8 | 27.9 (18.8, 39.2) |
Unknown | 36 | 18 | 47 | 13 | 12 | 11 | 29 | 23 |
Mutation status | ||||||||
 None | 161 (100.0%) | 0 (0.0%) | 189 (61.4%) | 69 (90.8%) | 78 (94.0%) | 79 (85.9%) | 134 (93.7%) | 33 (49.3%) |
 C9orf72 | 0 (0.0%) | 60 (47.2%) | 56 (18.2%) | 0 (0.0%) | 1 (1.2%) | 2 (2.2%) | 1 (0.7%) | 15 (22.4%) |
 GRN | 0 (0.0%) | 34 (26.8%) | 21 (6.8%) | 6 (7.9%) | 1 (1.2%) | 6 (6.5%) | 0 (0.0%) | 7 (10.4%) |
 MAPT | 0 (0.0%) | 31 (24.4%) | 32 (10.4%) | 0 (0.0%) | 1 (1.2%) | 1 (1.1%) | 1 (0.7%) | 11 (16.4%) |
 C9orf72 and GRN | 0 (0.0%) | 2 (1.6%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) |
 Other | 0 (0.0%) | 0 (0.0%) | 3 (1.0%) | 1 (1.3%) | 1 (1.2%) | 1 (1.1%) | 0 (0.0%) | 0 (0.0%) |
 Unknown | 0 (0.0%) | 0 (0.0%) | 7 (2.3%) | 0 (0.0%) | 1 (1.2%) | 3 (3.3%) | 7 (4.9%) | 1 (1.5%) |
Years of education | 16 (12, 22) | 16 (10, 26) | 16 (6, 26) | 16 (10, 24) | 16 (12, 21) | 16 (5, 26) | 16 (12, 24) | 16 (9, 20) |
CDR + NACC-FTLD global score | ||||||||
 0 | 160 (100%) | 125 (100%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 2 (2.2%) | 2 (1.6%) | 1 (1.5%) |
 0.5 | 0 (0.0%) | 0 (0.0%) | 18 (5.9%) | 31 (40.8%) | 11 (13.4%) | 24 (26.1%) | 21 (16.8%) | 65 (97.0%) |
 1 | 0 (0.0%) | 0 (0.0%) | 103 (33.8%) | 31 (40.8%) | 48 (58.5%) | 40 (43.5%) | 50 (40.0%) | 0 (0.0%) |
 2 | 0 (0.0%) | 0 (0.0%) | 156 (51.1%) | 12 (15.8%) | 22 (26.8%) | 22 (23.9%) | 42 (33.6%) | 1 (1.5%) |
 3 | 0 (0.0%) | 0 (0.0%) | 28 (9.2%) | 2 (2.6%) | 1 (1.2%) | 4 (4.3%) | 10 (8.0%) | 0 (0.0%) |
Follow-up after baseline GFAP and NfL measurement | N/A | N/A | 301 (97.7%) | 76 (100.0%) | 82 (98.8%) | 90 (97.8%) | 129 (90.2%) | N/A |
Death | N/A | N/A | 42 (14.0%) | 16 (21.1%) | 13 (15.9%) | 14 (15.6%) | 20 (15.5%) | N/A |
Age at death (median; range) | N/A | N/A | 66 (41, 79) | 71 (61, 80) | 68 (57.0, 81) | 74 (59, 88) | 73 (57, 83) | N/A |
Neuropathological assessment | N/A | N/A | 42 (13.6%) | 16 (21.1%) | 13 (15.7%) | 14 (15.2%) | 22 (15.4%) | N/A |
Tau pathology | N/A | N/A | 20 (6.5%) | 15 (19.7%) | 3 (3.6%) | 11 (12.0%) | 22 (15.4%) | N/A |
TDP-43 pathology | N/A | N/A | 22 (7.1%) | 1 (1.3%) | 10 (12.0%) | 3 (3.3%) | 0 (0.0%) | N/A |