Table 1 Demographics and the RSMS total, EX and SP scores for each genetic group, split by global CDR® plus NACC FTLD score (0, 0.5, 1+). N represents number of participants, mean (standard deviation) shown for age, education and cognitive test scores. In the symptomatic (1+) groups, MMSE scores were significantly lower in GRN mutation carriers than in the C9orf72 expansion carrier group but no other differences were seen, whilst no differences were seen in the CDR® plus NACC FTLD-SB
| Â | N | Sex | Age (years) | Education (years) | MMSE (/30) | CDR plus NACC FTLD-SB | RSMS total (/65) | RSMS EX (/30) | RSMS SP (/35) | |
|---|---|---|---|---|---|---|---|---|---|---|
% male | Mean (SD) | Mean (SD) | Mean (SD) | Mean (SD) | Mean (SD) | Mean (SD) | Mean (SD) | |||
Controls | 269 | 42 | 46.2 (13.0) | 14.4 (3.4) | 29.3 (1.1) | 0.2 (0.4) | 47.8 (8.4) | 23.3 (4.2) | 24.5 (5.3) | |
C9orf72 | 0 | 93 | 41 | 43.9 (11.6) | 14.3 (3.0) | 29.1 (1.2) | 0.0 (0.0) | 47.1 (10.5) | 22.8 (5.4) | 24.3 (6.0) |
| Â | 0.5 | 34 | 44 | 49.7 (11.2) | 14.0 (2.6) | 28.4 (2.2) | 1.1 (0.7) | 41.9 (11.4) | 19.8 (6.2) | 22.1 (6.3) |
1+ | 66 | 65 | 62.7 (9.5) | 13.0 (3.8) | 23.3 (6.8) | 11.1 (5.6) | 23.5 (12.3) | 9.6 (7.0) | 14.0 (6.6) | |
GRN | 0 | 122 | 34 | 45.6 (12.2) | 14.7 (3.5) | 29.5 (0.8) | 0.0 (0.0) | 47.9 (8.9) | 23.6 (4.0) | 24.3 (5.9) |
| Â | 0.5 | 24 | 46 | 51.3 (13.8) | 14.0 (4.3) | 28.6 (2.3) | 0.9 (0.8) | 43.8 (10.7) | 21.6 (6.3) | 22.2 (5.6) |
1+ | 47 | 47 | 63.0 (7.4) | 11.7 (3.4) | 20.1 (7.7) | 9.8 (6.2) | 28.6 (12.1) | 12.9 (6.7) | 15.6 (6.1) | |
MAPT | 0 | 41 | 41 | 38.3 (11.0) | 14.3 (3.3) | 29.5 (0.8) | 0.0 (0.0) | 50.7 (9.7) | 24.0 (4.5) | 26.7 (6.0) |
| Â | 0.5 | 13 | 31 | 46.4 (12.8) | 13.6 (2.5) | 28.1 (2.3) | 1.1 (0.8) | 50.1 (14.2) | 23.8 (7.5) | 26.3 (7.1) |
1+ | 21 | 57 | 58.9 (9.4) | 13.6 (4.0) | 21.9 (8.1) | 10.3 (6.0) | 22.8 (18.9) | 9.4 (9.5) | 13.4 (9.8) | |