Clinical, biochemical, molecular, and neuroradiologic findings of the patients
| Patient/ Gender | Age at Diagnosis (months) | Presentation | RC/Molecular Defect | Neurological Symptoms | MR Findings |
|---|---|---|---|---|---|
| 1/F | 295 | NSME | CI–CIV | A, C, PR | Cerebellar atrophy |
| 2/F | 67 | NSME | CI | A, C, H, HL, PR, SZ | Cerebellar atrophy |
| 3/F | 85 | NSME | CI | A, C, H, SZ | Cerebellar atrophy |
| 4/F | 20 | NSME | CI–CIV | A, C, D, H, SZ | Cerebellar atrophy |
| 5/F | 7 | NSME | CI + III, II + III | A, C, H, HL, SZ | Pontocerebellar hypoplasia |
| 6/F | 85 | NSME | CI + III, II + III (CoQ10 deficiency) | C, H, PR, SZ | Mild cerebellar atrophy |
| 7/F | 13 | NSME | CI–CIV | A, C, H, HL | Cerebellar hypoplasia |
| 8/M | 48 | NSME | CI | A, C, H | Cerebellar atrophy |
| 9/M | 31 | NSME | CI | A, C, H, SZ | Cerebellar atrophy |
| 10/M | 45 | NSME | CI | A, C, H, HL, PR | Cerebellar atrophy |
| 11/F | 162 | NSME | CII | A, C, H | Cerebellar atrophy |
| 12/M | 35 | NSME | CIV | A, C, H, HL | Cerebellar atrophy |
| 13/M | 31 | NSME | CII | A, C, D, H, SZ | Cerebellar atrophy |
| 14/M | 43 | NSME | CII | A, C, H, HL, SZ | Cerebellar atrophy |
| 15/M | 16 | LS | CIV SURF1 (Q195X/A56G) | A, C, H | Cerebellar atrophy/ bilateral basal ganglia lesions |
| 16/M | 216 | MNGIE | TP (homozygous IVS1-1G→C) | A, H, O, P, PR | Cerebellar atrophy/ leukoencephalopathy |
| 17/F | 104 | MELAS | 3243A→G | A, C, H, HL, ST, SZ | Cerebellar atrophy/stroke like lesions |
| 18/F | 206 | MELAS | 3243A→G | A, C, H, HL, ST | Cerebellar atrophy/stroke-like lesions |
Note.—CI through CIV indicates defect of the RC enzyme complex I to IV; CI–CIV, combined RC enzyme defects; CoQ10, coenzyme Q10; NSME, nonspecific mitochondrial encephalomyopathy; LS, Leigh syndrome; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy; MELAS, mitrochondrial encephalomyopathy with lactic acidosis and strokelike episodes; A, ataxia; C, cognitive impairment; D, dystonia; H, hypotonia; HL, hearing loss; O, external ophthalmoparesis; P, paresthesia; PR, pigmentary retinopathy; ST, strokelike episodes; SZ, seizures.