Table 1.
Patient demographic and clinical characteristics.
| Patient II-3 (Proband) | Patient II-2 | |
|---|---|---|
| Sex | Male | Male |
| Age of onset (years) | 19 | 30 |
| Disease duration (years) | 39 | 36 |
| Asymmetric weakness of lower limbs | Yes | Yes |
| Paresis | Yes | Yes |
| Spasticity | Yes | Yes |
| Ataxia | Yes | Yes |
| Sensory symptoms | No | No |
| Transient loss of vision | Yes | Yes |
| Ocular instability | Yes | Yes |
| Bi-temporal pale discs | Yes | Yes |
| Epilepsy | Yes | No |
| Dysarthria | Yes | Yes |
| Mental impairment | Yes | Yes |
| Urge incontinence | Yes | Yes |
| Investigations | Isolated oligoclonal band positivity and increased IgG-index (CSF) | – |
| Prolonged visual evoked potentials | – | |
| MRI of neuroaxis | Global atrophy | Global atrophy |
| Symptomatic treatment | Oxcarbazepine | Gabapentin |
| Sertraline | Pramipexole | |
| Tizanidine | Tizanidine | |
| Tolterodine |