Table 1.
Clinical and Radiological Findings in the Patients
| Family-Patient | 1-122 | 1-1211 | 1-21 | 2-2761 | 2-2758 | 2-2769 | 2-2762 | 3-2327 | 3-2328 |
|---|---|---|---|---|---|---|---|---|---|
| Current age | 20 | 18 | 14 | 17 | 11 | 8 | 7 | 12 | 10 |
| Age at onset | 4.5 | 6 | 5 | 4.5 | 4.5 | 5 | 4 | 4 | 6 |
| Initial symptom | walking difficulty | foot inversion | foot inversion | walking difficulty | walking difficulty | foot inversion | walking difficulty | walking difficulty | walking difficulty |
| Spasticity | + | + | + | + | + | + | + | + | + |
| Dystonia | + | + | + | + | + | + | + | − | − |
| Cerebellar signs | + | + | − | + | − | + | − | − | − |
| Transfer to special education | 14 | 11 | 12 | 14 | RC | RC | RC | RC | RC |
| Wheelchair-bound | 14 | 13 | 14 | 12 | 11 | walking | walking | walking | walking |
| Dysarthria onset | 6 | 7 | 6 | 7 | 5 | 7 | 5 | − | − |
| Seizures onset | 15 | − | − | 12 | − | − | − | − | − |
| Initial brain MRI findings | PPRT | PPRT, TCC, CA | PPRT, TCC, CA | PPRT, TCC, CA | PPRT | PPRT | PPRT | not done | normal |
All numbers refer to age in years, RC, Regular Class; clinical signs are as follows: present (+) or not present (−). PPRT, prolonged periventricular relaxation time; TCC, thin corpus callosum; and CA, cerebellar atrophy.