Table 1 Clinical and demographic data including follow-up data of the mHTT carriers. Only antidepressants and antipsychotics have been included in the number of subjects on medication.
Cohort | Controls | Premanifest HD | Manifest HD | ||
|---|---|---|---|---|---|
n | 42 | 13 | 13 | ||
Female/Male | 27/15 | 6/7 | 5/8 | ||
On medication, n | 6 | 1 | 8 | ||
Age*, median(range) | 44(20–74) | 34(19–56) | 51(30–72) | ||
CAG, median(range) | n/a | 42(40–54) | 43(39–49) | ||
5 year risk of onset, % median(range) | n/a | 23(1–46) | n/a | ||
DBS*, mean(±SD) | n/a | 265(±73.7) | 385(±62.9) | ||
TFC*, mean(±SD) | n/a | 13(±0.0) | 9.5(±3.50) | ||
TMS*, median(range) | n/a | 1(0–4) | 29(8–64) | ||
CVF*, mean(±SD) | n/a | 22(±3.7) | 12(±5.3) | ||
VFL*, mean(±SD) | n/a | 42(±15.3) | 17(±10.1) | ||
SDMT*, mean(±SD) | n/a | 48(±12.5) | 20(±9.94) | ||
SI*, median(range) | n/a | 47(38–62) | 22(6–36) | ||
SWR* mean(±SD) | n/a | 88(±15.7) | 48(±22.2) | ||
SC*, mean(±SD) | n/a | 69(±11.2) | 33(±14.9) | ||
Follow-up | Premanifest HD | Manifest HD | |||
n | 7 | 8 | |||
Female/Male | 3/4 | 3/5 | |||
On medication, n | 3 | 5 | |||
Transitioned, n | 1 | n/a | |||
Sampling interval in months, median(range) | 12(11.2–44.6) | 28(10.4–44.2) | |||
Sampling a | 1 st | 2 nd | 1 st | 2 nd | |
5 year risk of onset$, % median(range) | 14(1–30) | 17.5(2–33) | n/a | n/a | |
DBS$, mean(±SD) | 254(±69.2) | 267(±69.0) | 380(±79.6) | 396(±86.0) | |
TFC, mean(±SD) | 13(±0.0) | 13(±0.0) | 9.8(±3.20) | 8.0(±3.93) | |
TMS, median(range) | 1.5(0–4) | 1.5(0–5) | 28(8–64) | 32.5(17–60) | |
CVF, mean(±SD) | 22(±3.11) | 19(±7.28) | 13(±3.31) | 12(±7.95) | |
VFL, mean(±SD) | 38(±12.8) | 40(±11.1) | 16.7(±11.3) | 16.9(±12.5) | |
SDMT, mean(±SD) | 46(±17.0) | 46(±14.3) | 24(±3.99) | 24(±11.6) | |
SI, median(range) | 45.5(38–50) | 46(34–57) | 22(6–31) | 19(11–28) | |
SWR, mean(±SD) | 85(±19.6) | 87(±28.5) | 50(±17.4) | 51(±11.9) | |
SC, mean(±SD) | 72(±14.2) | 66(±13.6) | 36(±10.4) | 33(±9.25) | |
