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) |