Table 1.
Demographics, clinical scores and frequency of motor symptoms for all mutation carriers (C9orf72, GRN, MAPT) and healthy controls
| Controls | All mutation carriers | C9orf72 | GRN | MAPT | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CDR® plus NACC FTLD | All | 0 | 0.5 | 1 + | All | 0 | 0.5 | 1 + | All | 0 | 0.5 | 1 + | All | 0 | 0.5 | 1 + | |
| Number of participants | 310 | 522 | 291 | 82 | 149 | 221 | 112 | 37 | 72 | 213 | 130 | 31 | 52 | 88 | 49 | 14 | 25 |
| % Male | 44 | 44 | 38 | 41 | 58 | 49 | 41 | 41 | 65 | 39 | 35 | 48 | 46 | 45 | 41 | 29 | 64 |
| Age (years) | 46.0 (12.7) | 50.1 (13.7) | 44.2 (11.9) | 49.7 (12.3) | 62.0 (9.2) | 51.2 (13.6) | 44.5 (11.7) | 49.4 (11.2) | 62.7 (9.3) | 51.0 (13.6) | 45.8 (12.2) | 51.8 (13.2) | 63.5 (7.7) | 45.3 (13.1) | 39.2 (10.4) | 45.7 (12.6) | 57.0 (10.1) |
| Education (years) | 14.5 (3.3) | 13.9 (3.4) | 14.5 (3.2) | 13.9 (3.1) | 12.8 (3.7) | 13.9 (3.2) | 14.4 (3.0) | 14.1 (2.6) | 13.1 (3.7) | 13.9 (3.7) | 14.7 (3.4) | 14.0 (4.0) | 11.9 (3.5) | 14.1 (3.3) | 14.4 (3.3) | 13.5 (2.4) | 13.6 (3.8) |
| MMSE | 29.3 (1.0) | 27.1 (5.3) | 29.3 (1.0) | 28.5 (2.2) | 21.9 (7.6) | 27.2 (4.7) | 29.1 (1.2) | 28.5 (2.1) | 23.4 (6.6) | 26.9 (6.0) | 29.4 (0.9) | 28.5 (2.4) | 19.3 (8.4) | 27.4 (5.1) | 29.5 (0.8) | 28.2 (2.3) | 22.8 (7.7) |
| CDR® plus NACC FTLD Global score | 0.1 (0.2) | 0.6 (1.0) | 0.0 (0.0) | 0.5 (0.0) | 2.0 (0.8) | 0.8 (1.0) | 0.0 (0.0) | 0.5 (0.0) | 2.1 (0.8) | 0.5 (0.9) | 0.0 (0.0) | 0.5 (0.0) | 1.9 (0.8) | 0.6 (0.9) | 0.0 (0.0) | 0.5 (0.0) | 1.9 (0.8) |
| CDR® plus NACC FTLD Sum of Boxes | 0.2 (0.4) | 3.1 (5.5) | 0.0 (0.0) | 1.1 (0.8) | 10.3 (5.8) | 3.8 (6.0) | 0.0 (0.0) | 1.1 (0.8) | 10.9 (5.7) | 2.5 (5.1) | 0.0 (0.0) | 1.0 (0.8) | 9.8 (6.0) | 2.9 (5.3) | 0.0 (0.0) | 1.1 (0.8) | 9.7 (5.8) |
| Motor symptoms % | 6.8 | 24.3 | 5.5 | 20.7 | 63.1 | 31.7 | 7.1 | 32.4 | 69.4 | 18.8 | 4.6 | 9.7 | 59.6 | 19.3 | 4.1 | 14.3 | 52.0 |
| Motor diagnosis % | 0.0 | 4.2 | 1.4 | 6.1 | 8.7 | 7.7 | 2.7 | 13.5 | 12.5 | 1.4 | 0.0 | 0.0 | 5.8 | 2.3 | 2.0 | 0.0 | 4.0 |
Age, education, Mini-Mental State Examination (MMSE) and clinical rating scale scores are shown as mean (standard deviation)