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 |