Table 1. Characteristics at first screening visit of participants who underwent at least 1 successful sampling visit.
Successful visits were defined as when dura was pierced and CSF was collected, irrespective of amount of CSF. Continuous variables are reported as mean ± standard deviations. Categorical variables are reported as absolute and relative frequencies. BMI, body mass index; CAG, CAG repeat count; DBS, Disease Burden Score; UHDRS, Unified Huntington’s Disease Rating Scale; TMS, UHDRS Total Motor Score; TFC, UHDRS Total Functional Capacity; IS, UHDRS Independence Score; FA, UHDRS Functional Assessment; SWR, Stroop Word Reading test; SCN, Stroop Color Naming test; SDMT, Symbol Digits Modality Test; VFC, Verbal Fluency Categorical; n/a, not applicable.
| All | Healthy controls (HC) | Premanifest HD (PM) | Manifest HD (M) | Group membership | HC vs PM | PM vs M | |
|---|---|---|---|---|---|---|---|
| N | 391 | 91 (23.27%) | 124 (31.71%) | 176 (45.01%) | n/a | n/a | n/a |
| Age | 47.53 ± 12.59 | 48.67 ± 12.67 | 39.44 ± 10.84 | 52.63 ± 10.73 | <0.001 | <0.001 | <0.001 |
| Female | 194 (49.62%) | 52 (57.14%) | 69 (55.65%) | 73 (41.48%) | 0.015 | 0.827 | 0.016 |
| Caucasian | 383 (97.95%) | 91(100.00%) | 119 (95.97%) | 173 (98.30%) | 0.144 | 0.074 | 0.282 |
| Right-handed | 341 (87.21%) | 82 (90.11%) | 107 (86.29%) | 152 (86.36%) | 0.642 | 0.398 | 0.986 |
| BMI (kg/m2) | 26.17 ± 4.91 | 28.20 ± 5.69 | 25.52 ± 4.75 | 25.57 ± 4.28 | <0.001 | <0.001 | 0.925 |
| CAG | n/a | n/a | 42.93 ± 2.50 | 43.40 ± 2.77 | n/a | n/a | 0.124 |
| DBS | n/a | n/a | 278.13 ± 79.66 | 395.29 ± 98.16 | n/a | n/a | <0.001 |
| UHDRS TMS | 15.78 ± 20.72 | 1.20 ± 2.14 | 2.63 ± 3.69 | 32.69 ± 20.64 | <0.001 | 0.460 | <0.001 |
| UHDRS TFC | 11.53 ± 2.63 | 12.98 ± 0.15 | 12.80 ± 0.73 | 9.90 ± 3.18 | <0.001 | 0.550 | <0.001 |
| UHDRS IS | 92.11 ± 13.91 | 100.00 ± 0.00 | 99.35 ± 2.55 | 82.93 ± 16.50 | <0.001 | 0.676 | <0.001 |
| UHDRS FA | 22.96 ± 4.45 | 24.98 ± 0.15 | 24.76 ± 0.92 | 20.65 ± 5.81 | <0.001 | 0.686 | <0.001 |
| SWR | 82.62 ± 27.14 | 101.85 ± 16.28 | 97.17 ± 19.08 | 62.20 ± 22.13 | <0.001 | 0.090 | <0.001 |
| SCN | 64.64 ± 21.36 | 79.43 ± 15.63 | 76.52 ± 12.74 | 48.43 ± 17.32 | <0.001 | 0.178 | <0.001 |
| SDMT | 43.26 ± 17.23 | 53.89 ± 12.08 | 53.69 ± 11.74 | 29.96 ± 13.36 | <0.001 | 0.906 | <0.001 |
| VFC | 19.23 ± 7.22 | 23.54 ± 5.11 | 22.73 ± 5.46 | 14.51 ± 6.40 | <0.001 | 0.313 | <0.001 |