TABLE 1.
Complete demographic and clinical information of the 724 individuals who passed QC
| Noncarriers (n = 281) | C9orf72 presympt (n = 122) | GRN presympt (n = 135) | MAPT presympt (n = 56) | C9orf72 sympt (n = 62) | GRN sympt (n = 44) | MAPT sympt (n = 24) | |
|---|---|---|---|---|---|---|---|
| Age at visit | |||||||
| Mean (SD) | 46.1 (13.5) | 44.0 (11.9) | 46.1 (11.9) | 38.9 (11.4) | 63.7 (7.23) | 63.2 (7.07) | 58.5 (8.23) |
| Median [Min, Max] | 44.6 [19.4, 85.0] | 43.7 [20.1, 69.3] | 46.0 [20.2, 75.5] | 37.0 [20.5, 74.0] | 64.7 [46.5,77.9] | 63.4 [50.1,77.0] | 59.2 [31.9,69.2] |
| EYO | |||||||
| Mean (SD) | −13.1 (14.1) | −14.90 (12.2) | −14.1 (12.4) | −13.6 (12.4) | 4.72 (5.96) | 1.96 (6.20) | 5.25 (4.48) |
| Median [Min, Max] | −15.3 [−50.0,27.6] | −15.8 [−47.4, 18.3] | −15.6 [−39.0, 14.0] | −14.4 [−39.4, 15.7] | 5.33 [−15.3,15.6] | 1.59 [−11.9,19.1] | 5.46 [−5.44,14.3] |
| Gender | |||||||
| Female | 164 (58.4%) | 71 (58.2%) | 89 (65.9%) | 32 (57.1%) | 25 (40.3%) | 25 (56.8%) | 8 (33.3%) |
| Male | 117 (41.6%) | 51 (41.8%) | 46 (34.1%) | 24 (42.9%) | 37 (59.7%) | 19 (43.2%) | 16 (66.7%) |
| Education | |||||||
| Mean (SD) | 14.3 (3.62) | 14.3 (3.13) | 14.7 (3.57) | 14.3 (3.18) | 12.5 (3.77) | 13.6 (3.77) | 14.0 (3.63) |
| Median [Min, Max] | 14.0 [5.0, 24.0] | 15.0 [5.0,20.0] | 15.0 [8.0, 24.0] | 15.0 [5.0,20.0] | 12.0 [4.0,22.0] | 13.5 [5.0,20.0] | 14.0 [4.0,24,0] |
| Memory | |||||||
| Mean (SD) | 0.8 (1.9) | 1.06 (2.34) | 0.5 (1.27) | 0.8 (1.6) | 11.6 (8.0) | 9.8 (7.1) | 12.8 (9.2) |
| Median [Min, Max] | 0 [0,13.0] | 0 [0,14.0] | 0 [0,10.0] | 0[0,7.0] | 12.5 [0,28.0] | 8.0 [0,32.0] | 13.0 [0,30.0] |
| Everyday skills | |||||||
| Mean (SD) | 0.1 (0.6) | 0.1 (0.5) | 0.1 (0.6) | 0.1 (0.6) | 6.5 (6.2) | 5.6 (5.9) | 4.13 (5.17) |
| Median [Min, Max] | 0 [0,9.0] | 0 [0,4.0] | 0 [0,6.0] | 0 [0,4.0] | 5.5 [0,20.0] | 4.0 [0,20.0] | 2.0 [0,14.0] |
| Self‐care | |||||||
| Mean (SD) | 0.2 (0.8) | 0.4 (0.9) | 0.19 (0.7) | 0.3 (0.9) | 5.6 (4.7) | 4.3 (5.6) | 3.4 (5.3) |
| Median [Min, Max] | 0 [0,7.0] | 0 [0,4.0] | 0 [0,6.0] | 0 [0,5.0] | 5.0 [0,19.0] | 1.5 [0,18.0] | 1.0 [0,20.0] |
| Abnormal behaviour | |||||||
| Mean (SD) | 0.6 (1.2) | 1.2 (2.0) | 0.6 (1.5) | 1.5 (2.6) | 6.3 (5.5) | 4.1 (4.7) | 6.6 (5.3) |
| Median [Min, Max] | 0 [0,6.0] | 0 [0,9.0] | 0 [0,10.0] | 0 [0,13.0] | 5.5 [0,18.0] | 3.0 [0,23.0] | 6.0 [0,18.0] |
| Sleep | |||||||
| Mean (SD) | 0.4 (1.0) | 0.5 (1.2) | 0.4 (1.2) | 0.7 (1.8) | 3.6 (3.3) | 2.9 (2.9) | 3.3 (4.2) |
| Median [Min, Max] | 0 [0,8.0] | 0 [0,8.0] | 0 [0,10.0] | 0 [0,10.0] | 3.0 [0,14.0] | 3.0 [0,10.0] | 2.0 [0,16.0] |
| Eating | |||||||
| Mean (SD) | 0.3 (1.0) | 0.4 (1.0) | 0.2 (0.7) | 0.6 (1.6) | 5.3 (5.2) | 3.6 (3.7) | 5.4 (5.1) |
| Median [Min, Max] | 0 [0,12.0] | 0 [0,6.0] | 0 [0,4.0] | 0 [0,8.0] | 3.0 [0,16.0] | 2.0 [0,14.0] | 3.5 [0,15.0] |
| Mood | |||||||
| Mean (SD) | 0.6 (1.4) | 0.8 (1.6) | 0.5 (1.1) | 1.0 (1.8) | 3.1 (3.4) | 2.4 (3.0) | 3.0 (3.0) |
| Median [Min, Max] | 0 [0,9.0] | 0 [0,7.0] | 0 [0,5.0] | 0 [0,7.0] | 2.0 [0,13.0] | 2.0 [0,12.0] | 2.0 [0,10.0] |
| Beliefs | |||||||
| Mean (SD) | 0.1 (0.3) | 0.1 (0.7) | 0.1 (0.4) | 0.2 (1.3) | 2.5 (3.5) | 2.6 (3.8) | 1.0 (2.7) |
| Median [Min, Max] | 0 [0,3.0] | 0 [0,6.0] | 0 [0,4.0] | 0 [0,9.0] | 1.0 [0,16.0] | 0 [0,13.0] | 0 [0,12.0] |
| Stereotypic behavior | |||||||
| Mean (SD) | 0.5 (1.2) | 0.9 (1.7) | 0.4 (1.1) | 1.1 (2.4) | 7.4 (5.4) | 5.0 (4.6) | 7.1 (5.7) |
| Median [Min, Max] | 0 [0,8.0] | 0 [0,8.0] | 0 [0,10.0] | 0 [0,13.0] | 7.0 [0,20.0] | 4.0 [0,20.0] | 6.5 [0,16.0] |
| Motivation | |||||||
| Mean (SD) | 1.6 (3.9) | 2.9 (5.1) | 1.7 (4.0) | 3.43 (10.1) | 26.1 (26.9) | 26.3 (29.9) | 15.5 (20.7) |
| Median [Min, Max] | 0 [0,38.0] | 0 [0,28.0] | 0 [0,30.0] | 0 [0,72.0] | 14.0 [0,108.0] | 14.0 [0,106.0] | 9.5 [0,80.0] |