Patient | Age (years) | Clinical diagnosis | Heteroplasmy of mtDNA mutation | CI/CS | COX/CS | NPD | Specific striatal 123I-FP-CIT binding |
---|---|---|---|---|---|---|---|
Control values (n = 21; mean (SD)): CI/CS = 0.11 (0.03); COX/CS = 0.64 (0.18). | |||||||
CI, complex I; COX, cytochrome c oxidase; CPEO, chronic progressive external ophthalmoplegia; CS, citrate synthase; KSS, Kearns-Sayre syndrome; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; mtDNA, mitochondrial DNA; NPD, neuropsychological deficit. | |||||||
1 | 35 | CPEO plus | 16% deletion | 0.088 | 0.26 | No | 3.59 |
2 | 40 | KSS | 78% deletion | 0.004 | 0.05 | Yes | 3.57 |
3 | 40 | KSS | 62% deletion | 0.017 | 0.08 | Yes | 2.87 |
4 | 43 | CPEO plus | 26% deletion | 0.024 | 0.12 | Yes | 3.22 |
5 | 46 | MELAS | 75% A3243G point mutation | 0.068 | 0.43 | Yes | 3.52 |
6 | 51 | CPEO plus | 53% deletion | 0.005 | 0.10 | Yes | 3.09 |
7 | 53 | CPEO plus | 58% deletion | 0.021 | 0.10 | No | 2.90 |
8 | 61 | CPEO plus | 23% deletion | 0.071 | 0.33 | Yes | 3.09 |
9 | 62 | CPEO plus | 52% A3243G point mutation | 0.042 | 0.17 | Yes | 2.83 |
10 | 69 | CPEOplus | <20%, multiple deletions | 0.044 | 0.22 | Yes | 2.50 |