Table 2.
MRI findings and A-T score
| Patient number | Age (years) | Sex M/F | Ataxia Score (points) | Cerebellar atrophy vermis | Cerebellar atrophy hemispheres | Pontine atrophy | Spinal atrophy |
|---|---|---|---|---|---|---|---|
| 1 | 2.6 | M | 13 | − | − | − | − |
| 2 | 4.2 | F | 14 | − | − | − | − |
| 3 | 4.3 | M | 16 | ++ | + | − | − |
| 4 | 5.9 | F | 14 | − | − | − | − |
| 5 | 8.5 | M | 15 | ++ | ++ | − | − |
| 6 | 10.0 | F | 22 | n.d. | n.d. | n.d. | n.d. |
| 7 | 11.6 | M | 25 | ++ | ++ | + | + |
| 8 | 13.1 | M | 22 | − | − | − | − |
| 9 | 14.0 | F | 23 | + | + | − | − |
| 10 | 14.3 | M | 22 | ++ | ++ | + | − |
| 11 | 14.9 | M | 25 | − | − | − | − |
| 12 | 16.2 | F | 20 | ++ | ++ | + | − |
| 13 | 4.8 | M | 6 | + | − | − | − |
| 14 | 9.0 | M | 17 | ++ | ++ | − | − |
| 15 | 16.6 | F | 27 | ++ | ++ | + | + |
Patients 1–6 were < 10 years; patients 7–12 > 10 years, and patients with complications, 13–15. Extent of neurodegeneration in MRI measured as described (20)
n.d. not determined