Table 1.
Clinical features of the patient
| Features | Specifics |
|---|---|
| Age at onset (y) | 68 |
| Sex | M |
| Education (y) | 5 |
| Disease duration at first evaluation (m) | 8 |
| Brainstem signs | Hypophonia |
| Dysphonia | |
| Dysarthria | |
| Dysphagia | |
| Hemifacial and hemiorolingual myorhythmia | |
| Impairment of ocular horizontal smooth pursuit | |
| Slow horizontal saccades | |
| Lack of inhibition of the horizontal VOR | |
| Cerebellar signs | Trunk and limb ataxia |
| Action tremor of the upper limbs | |
| PNS signs | Proximal upper limb muscle wasting |
| Proximal symmetric muscle weakness | |
| Diffuse fasciculations | |
| Absent left patellar and bilateral Achilles reflexes | |
| Reduced vibration sense in the lower limbs | |
| Other signs | OSA |
| Snout reflex and brisk jaw jerk | |
| Bilateral negative myoclonus | |
| Postural tremor of the upper limbs | |
| Urinary urge incontinence | |
| MCI (formal neuropsychological testing) |
m months; M male; MCI mild cognitive impairment; OSA obstructive sleep apnea; PNS peripheral nervous system; VOR vestibulo-ocular reflex; y years