Table 2.
Summary of the vascular abnormalities occurring in the cerebellum of patients with mitochondrial DNA defects
| Pt 1 | Pt 2 | Pt 3 | Pt 4 | Pt 5 | Pt 6 | Pt 7 | Pt 8 | Pt 9 | Pt 10 | Pt 11 | Pt 12 | Pt 13 | Pt 14 | Pt 15 | Pt 16 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Frozen tissue available for analysis | + | − | − | + | − | + | + | + | + | + | + | + | + | + | + | + |
| Evidence of vascular COX-deficiency | + | ND | ND | + | ND | + | + | + | + | + | − | − | − | ND | − | − |
| Fixed tissue available for analysis | + | + | + | + | + | + | + | − | + | − | + | + | + | − | + | − |
| Presence of microinfarct | + | + | + | + | − | + | + | − | − | − | − | − | − | − | − | − |
| Presence of vessel mineralisation | − | − | − | − | − | + | + | − | − | − | − | − | − | − | − | − |
| Deposition of collagen IV | ↑ | ↔ | ↔ | ↑ | ↔ | ND | *↑ | ND | ↑ | ND | ↑ | ↔ | ND | ND | ND | ND |
| Mitochondrial density in vasculature | ↑ | ↑ | ↑ | ↑ | ↑ | ↓ | ND | ND | ↑ | ND | ↑ | ↑ | ↑ | ↓ | ↔ | ↑ |
| Extravascular plasma proteins | ND | + | − | + | + | + | + | + | ND | ND | ND | ND | − | − | + | ND |
| Neuronal/glial uptake of plasma proteins | ND | + | − | + | + | − | + | − | ND | ND | ND | ND | + | − | + | ND |
| Purkinje cells immunoreactivity (%) | ND | 1 | 0 | 60–70 | 50 | 0 | 30 | 0 | ND | ND | ND | ND | 20 | 0 | 50 | ND |
+ = present; − = absent; ↑ = increased; ↓ = - decreased; ↔ = no change; ND = not determined (due to lack of tissue); Pt = Patient.