Table 1.
Demographic and UHDRS Data
| Normal (N) | Intermediate (I) | p-value1 | Huntington's Disease (HD) | p-value1 | |
| (n = 645) | (n = 50) | (N vs. I) | (n = 1290) | (HD vs. I) | |
| Age [years] | 50.31 (13.29) | 49.08 (13.13) | 0.5828 | 48.80 (13.11) | 0.8021 |
| Female [%] | 373 (57.8) | 37 (74.0) | 0.0256 | 708 (54.9) | 0.0085 |
| White [%] | 602 (93.2) | 48 (96.0) | 0.7652 | 1206 (93.5) | 0.7667 |
| Employment status [% currently in labor force] | 444 (68.8) | 36 (72.0) | 0.7513 | 429 (31.6) | <0.0001 |
| Marital status [% currently married] | 505 (78.3) | 40 (80.0) | 0.8600 | 777 (60.2) | 0.0047 |
| History of at least one suicide attempt [%] | |||||
| – Overall | 9 (1.4) | 3 (6.0) | 0.0486 | 82 (6.4) | 1.0000 |
| – Females | 7 (1.9) | 3 (8.1) | 0.0522 | 48 (6.8) | 0.7346 |
| – Males | 2 (0.7) | 0 (0) | 1.0000 | 34 (5.8) | 1.0000 |
| Body mass index [kg/m2] | |||||
| – Overall | 28.63 (6.47) | 28.67 (7.00) | 0.8787 | 25.69 (5.42) | 0.0003 |
| – Females | 28.28 (6.76) | 28.91 (7.76) | 0.5416 | 25.55 (6.07) | 0.0008 |
| – Males | 29.09 (6.03) | 28.01 (4.45) | 0.5391 | 25.87 (4.50) | 0.1823 |
| Motor assessment | |||||
| Total UHDRS motor assessment [0–124] | 1.72 (2.91) | 2.16 (3.14) | 0.2581 | 30.11 (21.96) | <0.0001 |
| Total maximal chorea score [0–28] | 0.08 (0.41) | 0.16 (0.59) | 0.2245 | 7.72 (5.99) | <0.0001 |
| Total maximal dystonia score [0–20] | |||||
| – Overall | 0.01 (0.14) | 0.10 (0.42) | 0.0014 | 2.64 (3.60) | <0.0001 |
| – Females | 0.02 (0.18) | 0.14 (0.49) | 0.0001 | 2.56 (3.64) | <0.0001 |
| – Males | 0.004 (0.06) | 0 (0) | 0.9178 | 2.74 (3.56) | 0.0103 |
| Behavioral assessment | |||||
| UHDRS Behavioral frequency [0–44] | 4.39 (4.33) | 5.06 (4.48) | 6.94 (6.25) | ||
| UHDRS Behavioral frequency x severity [0–176] | 6.27 (9.12) | 8.28 (10.87) | 0.1945 | 13.51 (15.87) | 0.0186 |
| Cognitive assessment | |||||
| Mini Mental State Examination [0–30] | 29.12 (1.51) | 28.96 (1.56) | 0.3783 | 26.01 (4.30) | <0.0001 |
| UHDRS Verbal fluency | 40.25 (11.84) | 38.44 (11.51) | 0.1612 | 26.43 (14.88) | <0.0001 |
| UHDRS Symbol digit modalities test | 47.35 (10.91) | 45.65 (9.79) | 0.0734 | 30.11 (15.28) | <0.0001 |
| UHDRS Stroop color naming | 74.60 (15.32) | 72.27 (12.58) | 0.1264 | 52.05 (20.86) | <0.0001 |
| UHDRS Stroop word reading | |||||
| – Overall | 95.70 (18.36) | 89.96 (16.67) | 0.0187 | 67.39 (26.10) | <0.0001 |
| – Females | 96.90 (18.87) | 88.19 (17.42) | 0.0068 | 69.67 (26.00) | <0.0001 |
| – Males | 94.05 (17.53) | 95.25 (13.46) | 0.9647 | 64.66 (25.97) | 0.0001 |
| UHDRS Stroop interference | 43.40 (13.35) | 41.79 (11.59) | 0.2201 | 30.43 (14.74) | <0.0001 |
| UHDRS Independence assessment | 99.83 (1.38) | 99.49 (1.84) | 0.0942 | 84.31 (16.47) | <0.0001 |
| UHDRS Functional assessment | 24.89 (1.05) | 24.94 (0.32) | 0.7427 | 20.31 (5.80) | <0.0001 |
| UHDRS Total functional capacity | 12.85 (0.76) | 12.84 (0.59) | 0.9021 | 9.31 (3.55) | <0.0001 |
| Eye Movement Score [median (range)] | p-value2 (N vs I) | p-value3 (N vs I) | |||
| Ocular Pursuit – Horizontal | 0 (0–3) | 0 (0–1) | 0.9820 | 1 (0–4) | <0.0001 |
| Ocular Pursuit – Vertical | 0 (0–3) | 0 (0–1) | 0.9327 | 1 (0–4) | <0.0001 |
| Saccade Initiation – Horizontal | 0 (0–2) | 0 (0–2) | 0.1143 | 1 (0–4) | <0.0001 |
| Saccade Initiation – Vertical | 0 (0–2) | 0 (0–1) | 0.1788 | 1 (0–4) | <0.0001 |
| Saccade Velocity – Horizontal | 0 (0–1) | 0 (0–1) | 0.1096 | 1 (0–4) | <0.0001 |
| Saccade Velocity – Vertical | 0 (0–4) | 0 (0–1) | 0.0454 | 1 (0–4) | <0.0001 |
Abbreviations: N, Normal; I, Intermediate; HD, Huntington disease; n, sample size; UHDRS, Unified Huntington's Disease Rating Scale.
Difference in Various UHDRS Items between Subjects with Normal (<27) and Intermediate (27–35) CAG Repeats (0 = Normal; 1–4 Represents Increasing Levels of Impairment). *p<0.05, **p<0.01, RUE = right upper extremity, LLE = left lower extremity
Diagnostic Confidence at Baseline between the Normal, Intermediate, ‘High-Intermediate’ and HD Groups