Participant clinical information
| Healthy Control Group | HD Patient – Stages of disease | p value | |||||
| Pre-manifest | Stage 1 | Stage 2 | Stage 3 | Stage 4 | |||
| n | 68 | 15 | 17 | 15 | 13 | 10 | |
| Age | 53 ± 14 | 38 ± 7 | 53 ± 11 | 54 ± 10 | 59 ± 11 | 57 ± 8 | <0.001 |
| Gender F (M) | 40 (28) | 6 (9) | 7 (10) | 5 (10) | 9 (4) | 8 (2) | 0.21 |
| Disease severity | |||||||
| UHDRS (n) | NA | 3,2 ± 2,3 (15) | 18,6 ± 6,6 (17) | 33,6 ± 9,5 (13) | 43,4 ± 8,5 (13) | 59,1 ± 14,1 (10) | <0.001 |
| TFC (n) | 13 ± 0 (30) | 13 ± 0 (15) | 12,4 ± 0,6 (17) | 7,8 ± 0,8 (15) | 4,1 ± 1,1 (13) | 1,5 ± 0,5 (10) | <0.001 |
| CAG (n) | 23 ± 5 (8) | 41,3 ± 1,6 (13) | 42,3 ± 1,3 (15) | 43,2 ± 2,8 (13) | 43,4 ± 2,5 (8) | 44 ± 2,5 (8) | 0.23 |
| BDS (n) | NA | 207 ± 41 (9) | 335 ± 48 (12) | 356 ± 82 (12) | 442 ± 38 (7) | 465 ± 83 (7) | <0.001 |
| Comorbidities | |||||||
| Depression | 11 | 2 | 3 | 4 | 6 | 4 | 0.39 |
| Cancer | 0 | 0 | 0 | 0 | 0 | 0 | NA |
| Diabetes | 3 | 1 | 1 | 1 | 1 | 1 | 0.99 |
| Hypertension | 5 | 1 | 2 | 1 | 1 | 2 | 0.91 |
| Hypercholesterolemia | 9 | 1 | 1 | 0 | 0 | 0 | 0.64 |
| Asthma | 1 | 0 | 1 | 0 | 0 | 0 | 0.69 |
| Allergies | 4 | 0 | 2 | 2 | 1 | 0 | 0.59 |
| Anxiety | 5 | 1 | 3 | 2 | 3 | 1 | 0.87 |
Disease severity was evaluated within 6 months of blood sampling. Comorbidities were determined from medical information reported by the participant or caregiver. Statistical analyses: Unpairedt-tests when data followed normal distribution (Shapiro-Wilk test) or Mann-Witney test in cases of non-normality (*p<0.05, **p<0.01,***p<0.001).
BDS, Burden of Disease Scores; CAG, cytosine, adenine, guanine repeat; F, Female; HD, Huntington disease; M, Male; NA, not available; TFC, total functional capacity; UHDRS, Unified Huntington’s Disease Rating Scale.