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) |