Table 2.
Neuroimaging and neurophysiological studies
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
| Brain MRI features | |||||
| Cortical atrophy | Yes | No | No | Yes | No |
| Cerebellar atrophy | Yes | Yes | No | Yes | Yes |
| Thin corpus callosum | Yes | No | Yes | Yes | No |
| White matter changes | Yes | No | No | No | Yes |
| Hydrocephalus | No | No | No | No | No |
| Basal ganglia atrophy | No | No | Yes | Yes | No |
| Corticospinal tract hyperintensity | No | No | Yes | Yes | No |
| Electromyography features | |||||
| Insertional activity | Increased (C, L) | Increased (C, T, L) | Increased (C) | Increased (B, C, L) | Normal |
| Fasciculation | Yes (B, C, L) | Yes (B, C, L) | Yes (B, C, T, L) | Yes (B, C, T, L) | No |
| Fibrillation | Yes (B, C, L) | Yes (B, C, L) | Yes (B, C, T, L) | Yes (B, C, T, L) | No |
| positive sharp waves | Yes (B, C, L) | Yes (B, C, L) | Yes (B, C, T, L) | Yes (B, C, T, L) | No |
| Polyphasic motor potentials | Yes (B, C, T, L) | Yes (B, C, T, L) | Yes (B, C, T, L) | Yes (B, C, T, L) | Yes (B, C, T, L) |
| Amplitude motor potentials | Increased (B, C, T, L) | Increased (B, C, T, L) | Increased (B, C, T, L) | Increased (B, C, T, L) | Increased (B, C, T, L) |
| Duration of motor potentials | Increased (B, C, T, L) | Increased (B, C, T, L) | Increased (B, C, T, L) | Increased (B, C, T, L) | Increased (B, C, T, L) |
| Recruitment of motor potentials | Decreased (B, C, T, L) | Decreased (B, C, T, L) | Decreased (B, C, T, L) | Decreased (B, C, T, L) | Decreased (B, C, T, L) |
| Interference patterns | Rarefied (B, C, T, L) | Rarefied (B, C, T, L) | Rarefied (B, C, T, L) | Rarefied (B, C, T, L) | Rarefied (B, C, T, L) |
B: Bulbar segment. C: cervical segment. T: thoracic segment. L: lumbosacral segment