Table 1.
Demographic features and neuropsychological testing.
| Demographic features and cognitive and behavioral battery | Healthy controls (n = 46) | Presymptomatic C9ORF72 carriers (n = 15) | Test statistic, df | p |
|---|---|---|---|---|
| M:F, n | 21:25 | 6:9 | X = 0.15, 1 | 0.70 |
| Handedness, L:R | 6:40 | 2:13 | X = 0.001, 1 | 0.98 |
| Age at MRI scan, years | 47.8 (11.2) | 43.7 (10.2) | T = − 1.25, 59 | 0.21 |
| Education, years | 15.9 (2.3) | 16.1 (1.5) | U = 337 | 0.89 |
| Mean familial age of onset, years | NA | 51.8 (5.3) | NA | NA |
| Mean time to onset (based on mean familial age of onset), years | NA | 8.2 (11.0) | NA | NA |
| CDR, total (median, range) | (0,0) | (0,0) | NA | NA |
| CDR, sum of boxes | 0(0) | 0(0) | NA | NA |
| Mini-Mental State Exam (max = 30) | 29.2 (1.0) | 29.0 (1.2) | U = 328 | 0.77 |
| Memory | ||||
| California Verbal Learning Test, short form, four learning trials total (max = 36) | 30.2 (3.4) | 28.4 (2.7) | T = − 1.83, 43 | 0.07 |
| California Verbal Learning Test, short form, 10 min recall (max = 9) | 7.9 (1.4) | 6.9 (1.7) | U = 135.5 | 0.04 |
| California Verbal Learning Test, total intrusions | 0.2 (0.6) | 1.2 (2.0) | U = 306 | < 0.01 |
| Benson figure 10 min recall (max = 17) | 12.8 (2.8) | 12.3 (2.2) | U = 277.5 | 0.26 |
| Visuospatial/calculations | ||||
| Benson figure copy (max = 17) | 15.4 (1.0) | 15.6 (1.4) | U = 386 | 0.47 |
| Visual object and space perception battery (max = 10) | 9.4 (1.0) | 9.3 (1.0) | U = 306.5 | 0.54 |
| Calculations (max = 5) | 4.7 (0.5) | 4.9 (0.4) | U = 382.5 | 0.38 |
| Language/reading | ||||
| Abbreviated Boston naming test (max = 15) | 14.2 (1.2) | 13.4 (1.6) | U = 235 | 0.08 |
| Wide range achievement test 4 (max = 70) | 62.0 (4.7) | 62.7 (2.8) | T = 0.47, 45 | 0.64 |
| Executive | ||||
| Digit span forward | 6.9 (1.1) | 6.6 (1.2) | U = 227.5 | 0.28 |
| Digit span backward | 5.3 (1.5) | 5.6 (1.2) | U = 360.5 | 0.49 |
| Modified trails (correct lines per minute) | 39.2 (17.8) | 36.6 (18.6) | U = 304 | 0.50 |
| Modified trails errors | 0.5 (1.4) | 0.3 (0.5) | U = 326 | 0.70 |
| Stroop, color naming trial | 94.2 (14.1) | 91.7 (20.3) | T = − 0.54, 56 | 0.59 |
| Stroop, color naming trial errors | 0.1 (0.3) | 0.1 (0.4) | U = 349.5 | 0.28 |
| Stroop, interference trial | 55.4 (11.6) | 55.4 (14.2) | T = − 0.02, 54 | 0.99 |
| Stroop, interference trial errors | 0.4 (1.1) | 0.0 (0.0) | U = 238 | 0.08 |
| Letter fluency (‘D’ words in 1 min) | 15.0 (4.4) | 15.5 (4.2) | T = 0.33, 59 | 0.74 |
| Semantic fluency (animals in 1 min) | 23.2 (5.4) | 21.0 (4.5) | T = − 1.40, 59 | 0.17 |
| Design fluency (correct designs per minute) | 11.4 (3.5) | 12.1 (3.7) | U = 359.5 | 0.71 |
| Social/emotional | ||||
| Comprehensive affective testing system, face matching (max = 16) | 11.8 (0.5) | 11.7 (0.6) | U = 308 | 0.40 |
| Comprehensive affective testing system, affect matching (max = 16) | 13.2 (1.6) | 12.6 (1.1) | U = 264.5 | 0.20 |
| NPI frequency x severity (max = 144) | 2.8 (4.0) | 3.1 (5.8) | U = 192 | 0.94 |
| Interpersonal Reactivity Index, fantasy | 19.9 (6.1) | 18.0 (5.3) | T = − 0.85, 32 | 0.40 |
| Interpersonal Reactivity Index, empathic concern | 28.1 (5.7) | 28.5 (4.7) | U = 114.5 | 0.85 |
| Interpersonal Reactivity Index, perspective taking | 24.0 (5.5) | 22.4 (6.0) | T = − 0.73, 32 | 0.47 |
| Interpersonal Reactivity Index, personal distress | 12.2 (4.0) | 14.9 (7.5) | T = 1.39, 32 | 0.17 |
| Geriatric depression scale (max = 30) | 3.2 (3.5) | 4.5 (6.1) | U = 329 | 0.91 |
Abbreviations: df = degrees of freedom; NA = not applicable.