Clinical features of patients with expansions at the SCA1 and SCA2 loci
| SCA1 positive | SCA2 positive | |
|---|---|---|
| SCA, spinocerebellar ataxia; SD, standard deviation. | ||
| Number of patients | 7 | 26 |
| Number of families | 4 | 16 |
| Age at onset; mean (SD) (range) | 23.9 (12.2) (18–51) | 24.4 (11.4) (4–47) |
| Disease duration; mean (SD) (range) | 6.0 (5.2) (1–14) | 7.7 (6.4) (1–27) |
| Number of patients (%) | ||
| Dysarthria | 7 (100) | 25 (96) |
| Dysphagia | 2 (29) | 2 (8) |
| Gait ataxia | 7 (100) | 25 (96) |
| Upper limb ataxia | 7 (100) | 26 (100) |
| Lower limb ataxia | 7 (100) | 26 (100) |
| Ophthalmoplegia | 1 (14) | 0 (0) |
| Slow saccades | 4 (57) | 21 (81) |
| Nystagmus | 0 (0) | 0 (0) |
| Limitation of vertical gaze | 2 (29) | 3 (11) |
| Limitation of horizontal gaze | 2 (29) | 2 (8) |
| Eyelid retraction | 1 (14) | 0 (0) |
| Diplopia | 1 (14) | 0 (0) |
| Spasticity | 1 (14) | 1 (4) |
| Upper limb weakness | 1 (14) | 3 (11) |
| Lower limb weakness | 1 (14) | 4 (15) |
| Hyperreflexia | 3 (43) | 4 (15) |
| Hyporeflexia | 3 (43) | 19 (73) |
| Positive Babinski | 2 (29) | 3 (11) |
| Extrapyramidal signs | 0 (0) | 1 (4) |