Clinical details and investigations in five patients with MELAS
| Patient | Age at first stroke | Age last examined | LA | Additional features | Muscle histochemistry | Family history |
|---|---|---|---|---|---|---|
| 1 | 23 y (1)1-150 | 30 y | Yes | EPC | 10% RRF | None |
| Axonal neuropathy | No COX−ve | |||||
| 2 | 52 y (2) | 52 y | Yes | Deaf | 10% RRF | None |
| No COX−ve | ||||||
| 3 | 12 y (3) | 32 y | Yes | Dystonia | 3% RRF | None |
| Cerebellar ataxia | No COX−ve | |||||
| Spastic tetraraparesis | ||||||
| Dementia | ||||||
| 4 | 34 y (2) | 50 y | Yes | Optic atrophy | 30% RRF | None |
| Retinopathy | No COX−ve | |||||
| Cerebellar ataxia | ||||||
| Dystonia | ||||||
| Dementia | ||||||
| 5 | 45 y (1) | 53 y | Yes | Cataracts | 20% RRF | None |
| Deaf | No COX−ve | |||||
| Seizures | ||||||
| Leigh’s disease on MRI |
LA=lactic acidaemia (in plasma); EPC=epilepsia partialis continua; RRF=ragged red fibre with the succinate dehydrogenase method; COX=cytochrome c oxidase.
↵1-150 Number in parentheses indicates the total number of stroke-like episodes.