Table 1 Clinical and laboratory data in 13 patients with complex I deficiency
From: Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
mtDNA gene | MT-ND1 | MT-ND3 | MT-ND5 | ||||||||||
mutation | m. 3697 G > A | m. 3946 G > A | m. 10158 T > C | m. 12706 T > C | m. 13042G > A | m. 13046 T > C | m. 13091 T > C | m. 13513G > A | |||||
 muscle mtDNA heteroplasmy [%] | 93 | np | 53 | 95 | 83 | 96 | 70 | 61 | 67 | 48 | 97 | np | np |
 fibroblasts mtDNA heteroplasmy [%] | 81 | 79 | np | 85 | np | 65 | 43 | np | 65 | 40 | 4 | np | np |
 blood mtDNA heteroplasmy [%] | 93 | 96 | np | 90 | 3 | 96 | 27 | 4 | 58 | 44 | 35 | 21 | 64 |
 hair follicles mtDNA heteroplasmy [%] | 93 | np | np | 94 | np | 90 | 44 | 12 | np | 66 | 86 | 9 | 4 |
 urinary sediment mtDNA heteroplasmy [%] | 96 | np | np | np | 47 | 89 | 71 | 52 | np | 81 | 92 | 74 | 80 |
 buccal smear mtDNA heteroplasmy [%] | 93 | np | np | 92 | np | 93 | 34 | 30 | np | 55 | 68 | 5 | 71 |
median for all tissues | 93 | 88 | 53 | 92 | 47 | 92 | 44 | 30 | 65 | 52 | 77 | 15 | 68 |
age at onset (week, months, years) | 1 w | 1 w | 9 y | 4 m | 17 y | 6 m | 12 y | 10 y | 1 m | 6 y | 10 y | 10 y | 5 m |
first symptom | hypotony | hypotony | stroke-like episode | hypotony | Wernicke aphasia | hypotony | optic neuuropathy | migraine | hypotony | optic neuropathy | stroke-like episode | hearing loss | nystagmus |
failure to thrive | + | – | + | + | – | – | – | – | + | – | – | + | – |
initial hypotony/ later spasticity | +/+ | +/+ | +/+ | +/+ | −/− | +/+ | −/− | −/− | +/+ | −/− | −/− | +/− | +/− |
delayed motor development | + | + | + | + | – | + | – | – | + |  | – |  | – |
cerebellar symptoms | + | – | + | + | + | + | – | – | + | + | + | + | – |
strabismus | + | + | + | + | – | + | – |  |  | + | – | + | + |
epilepsy | + | – | + | + | + | – | – | + | + | + | + | + | – |
migraine | – |  |  | – | + | – | + | + | – | + | + | + | – |
optic atrophy | – |  |  | – | – | + | + | + | – | + | + | + | – |
ptosis | – |  |  | – | – | + | – | – | + | + | + | + | + |
CPEO | – |  | + | – | – | + | – | – | – | + | – | + | + |
visual impairment | + | + |  | – |  | + |  | +/− | + | + | – | + | + |
hearing loss | + |  | + | + | + | – | + | – | + | + | + | + | – |
peripheral neuropathy | – |  |  | + |  |  | – | – | – | – | + |  | – |
mental insufficiency | + | + | + | + |  | – | – | – | + | + | – | + | – |
psychiatric disturbances |  |  | + |  | + | – | + | – |  | + | + |  | – |
present age (years) | died at 7 | died at 1.8 | 31 | died at 1.3 | died at 42 | 6.5 | 17 | 31 | died at 3.3 | 20.5 | 25 | 22 | 6.5 |
creatine kinase [controls < 2.5 ukat/l] | 1–2.4 | 0.8 | 1 | 0.66 | 2–3.8 | np | 1–190 | 1–1.7 | 0.6 | np | 0.6–2 | 1.5–14 | 2–10 |
blood-lactate [controls < 2.3 mmol/l] | 2–6 | 3–6 | 2.7–4.4 | 3–7 | 3–8 | 2.8–5 | 1.5–13 | 1.2–2.6 | 2–3.4 | 8.6 | 2–5 | 2–5 | 2.4–4 |
CSF-lactate [controls < 2.1 mmol/l] | 3 | 4 | 7 | 5.6 | 4.5 | 3.9 | 4.3 | 4.2 | 3.6 | 14 | 6.2 | np | 4.3 |
age at MRI (months, years) | 2 y | 7 m | 14 y |  | 36 y | 20 m | 17 y | 32 y | 34 m | 9 y | 25y | 18 y | 3 y |
MRI – bilateral deep gray matter lesionsa | + | + | + | + | – | + | + | – | + | + | – | + | + |
MRI –stroke-like lesionsb | + | – | + | – | + | – | + | + | – | – | + | + | – |
MRI –periventricular atrophy | ++ | + | ++ | – | ++ | – | – | + | + | – | + | + | – |