Table 1. Track-HD and Leiden cohorts for RNA-Seq analysis.
| Cohort | Group | n | Mean age, y ± SD (range) | Gender (male/female) | Mean (CAG)n length ± SD (range) | Mean TMS ± SD (range) | Mean TFC ± SD (range) |
|---|---|---|---|---|---|---|---|
| Track-HD | Premanifest | 50 | 42 ± 9 (22–64) | 24/26 | 43 ± 3 (39–52) | 2 ± 2 (0–8) | 13 ± 0 (12–13) |
| Manifest | 62 | 48 ± 10 (23–64) | 26/36 | 44 ± 3 (39–59) | 23 ± 11 (5–45) | 11 ± 2 (7–13) | |
| HD | 112 | 46 ± 10 (22–64) | 50/62 | 44 ± 3 (39–59) | 14 ± 13 (0–45) | 12 ± 2 (7–13) | |
| Control | 22 | 45 ± 5 (34–53) | 9/13 | — | — | — | |
| Leiden | Premanifest | 18 | 46 ± 10 (29–63) | 5/13 | 42 ± 2 (39–47) | 3 ± 2 (0–5) | 12 ± 1 (10–13) |
| Manifest | 56 | 55 ± 11 (35–79) | 29/27 | 44 ± 3 (39–53) | 42 ± 30 (6–102) | 7 ± 5 (0–13) | |
| HD | 74 | 53 ± 11 (29–79) | 34/40 | 44 ± 3 (39–53) | 32 ± 31 (0–102) | 8 ± 5 (0–13) | |
| Control | 27 | 43 ± 11 (26–65) | 13/14 | — | — | — | |
| Combined | HD | 186 | 48 ± 11 (22–79) | 84/102 | 44 ± 3 (39–59) | 21 ± 24 (0–102) | 10 ± 4 (0–13) |
| Control | 49 | 44 ± 9 (26–65) | 22/27 | — | — | — |
Manifest subjects demonstrated motor abnormalities that were unequivocal signs of HD. Premanifest gene carriers had a total motor score of 5 or lower and a diagnostic confidence score (DCS) less than 4 on the UHDRS, indicating no substantial motor signs. The HD group consists of the combined premanifest and manifest subjects. Controls were matched for age and gender. Age and clinical scores considered for the analysis were at time of blood collection. SD – standard deviation; TFC – Total Functional Capacity; TMS – Total Motor Score.