Table 1 Clinical features
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| Sex | F | M | F | M |
| Age | 81 | 61 | 59 | 53 |
|
Age of onset and First symptoms |
55 ptosis + falls 60 gait disturbance | 24 gait disturbance |
16 seizures 39 gait disorder |
no subjective complaints |
| Walking assistance (age) | 65 | 60 | 50 | − |
| Disease duration (from onset of gait disorder to physical examination) | 36 | 37 | 20 | ? |
| MRI | Nd |
Cerebellar atrophy Discrete white matter lesions (age 56) |
Cerebellar atrophy Discrete white matter lesions (age 56) | Nd |
| Ataxia of stance and gait | +++ | ++ | ++ | + |
| Upper limb ataxia | + | + | + | + |
| Lower limb ataxia | + | + | + | + |
| Intention tremor | − | − | − | − |
| Dysarthria | (+) | ++ | + | + |
| Impaired smooth pursuit | Cannot be evaluated due to limitation of gaze | + | − | + |
| Gaze evoked nystagmus horizontal | Cannot be evaluated due to limitation of gaze | + | − | + |
| Impaired suppression of the vestibuloocular reflex (VOR) | − | − | + | − |
| Limitation of gaze |
Vertical complete Horizontal incomplete | − | − | − |
| Saccadic slowing | ++ | − | ++ | − |
| Ptosis | +++ | − | − | − |
| VI paresis | − | − | bilateral | − |
| Dysphagia | − | + | − | − |
| Hearing loss | + | − | − | − |
| Deep tendon reflexes | brisk | brisk | increased | brisk |
| Extensor plantar responses | − | − | − | − |
| Spasticity | − | − | − | − |
| Impaired noci- and thermoception | − | − | + | + |
| Impaired vibration sense | + | + | + | + |
| Other symptoms | − | sleep apnea | rare seizures | − |
| SARA score [15] | 11/40 | 11/40 | 19/40 | 8/40 |