Table 2.
Clinical rating scale scores of affected HDL2 patients assessing motor and cognitive function
| Subject | III.1 | III.2 | III.6 | III.13 | III.14 | IV.2 | |
|---|---|---|---|---|---|---|---|
| UPDRS motor score | 54 | 29 | 76 | 91 | 34 | 17 | |
| UHDRS motor score (I) | 65 | 45 | 80 | 94 | 40 | 22 | |
| UHDRS chorea subscore | 3 | 7 | 0 | 4 | 3 | 5 | |
| UHDRS cognitive score (II) | NA | 158 | NA | NA | 56 | 270 | |
| Verbal fluency test | NA | 9 | NA | NA | NA | 45 | |
| Stroop test | NA | 42-62-28 | NA | NA | 26-30-NA | 64-90-22 | |
| Symbol digit modalities test | NA | 17 | NA | NA | NA | 49 | |
| UHDRS behavioral score (III) | NA | 19 | NA | NA | 0 | 20 | |
| UHDRS functional score (IV) | 7 | 11 | 0 | 0 | 12 | 25 | |
| UHDRS independence score (V) | 55 | 65 | 50 | 20 | 70 | 100 | |
| UHDRS functional capacity scale (VI) | 3 | 5 | 2 | 0 | 0 | 13 | |
| MMSE | NAa | 19 | NA | NA | 7 | 24b | |
UPDRS = United Parkinson disease rating scale motor score (possible range, 0 –108); UHDRS parts I and III, higher scores are associated with more advanced disease; UHDRS parts II, IV, V and VI, lower scores are associated with more advanced disease. UHDRS = United Huntington disease rating scale motor score (I) has a range of 0 –124; UHDRS chorea subscore = chorea-relevant motor score of the UHDRS, i.e. item 12a–g (possible range, 0–28); MMSE = Mini Mental State Examination; NA, test results could not be acquired secondary to mutism and/or severe dementia.
a
18 months prior, MMSE = 8; 12 months prior, MMSE = 10.
b
7 months prior, MMSE =27.