Table 2.
The response to CoQ10 supplementations of our patients and previously reported ADCK3 mutated patients
| References | Molecular genetic mutation | Symptoms | CoQ10 level | Amount and duration of CoQ10 (ubidecarenon) | SARA before treatment | SARA after treatment | Other changes |
|---|---|---|---|---|---|---|---|
| Our patients | |||||||
| comp. htz c.1399‐3_1408del, at exon 12 | Dystonia, ataxia | Decreased | 200 mg BID, 6 m, then 400 mg BID, 3 m | 6 | 5 | Resolved in tremor, improved dystonia and ataxia | |
| comp. htz in‐frame deletion, c.1749_1751delCAC, p.Thr584Met, at exon 14 | Ataxia | Decreased | 200 mg BID, 6 m, then 400 mg BID, 3 m | 17 | 12 | Able to walk independently | |
| hmz c.913G>T; p.D305Y, at exon 7 | Ataxia | Decreased | Inconsistent with 400 mg BID, 2 y | 9 | 10 | Tremors worsen | |
| Previously reported patients | |||||||
| 5 | comp. htz c.[815G>A]+[1812_1813insG] exons 6 + 15 p.[Gly272Asp]+[Glu605Glyfs*125] | Exercise intolerance, ataxia, hand dystonia | Decreased | 250 mg TID, 15 y | 15.5 | NA | Improvement in exercise intolerance and vomiting |
| 5 | comp. htz c.[637C>T]+[815G>T] exons 4 + 6 p.[Arg213Trp]+[Gly272Val] | Delayed development, ataxia, hand dystonia, myoclonus | NA | 175 mg BID, 8 y | NA | NA | No improvement |
| 5 | comp. htz c.[637C>T]+[815G>T] exons 4 + 6 p.[Arg213Trp]+[Gly272Val] | Delayed development, ataxia | NA | 175 mg BID, 13 m | NA | NA | No improvement |
| 2 | comp. htz c.[811C>T], p.[Arg271Cys] c.[910G>A], p.[Ala304Thr] | Ataxia, mild dystonia | Normal | 300 mg/d, 6 m | NA | NA | No improvement |
| 2 | hmz c.[911C>T], p.[Ala304Val] | Ataxia, myoclonus, epilepsy | Decreased | 300 mg/d, 6 m | NA | NA | No improvement |
| 2 | hmz c.[895C>T], p.[Arg299Trp] | Delayed development, ataxia, epilepsy | Normal | 200 mg/d, 2 m | NA | NA | No improvement |
| 2 | comp. htz c.[1286A>G], p.[Tyr429Cys] | Delayed development, ataxia | Decreased | 200 mg/d, 2 m | NA | NA | No improvement |
| 6 | hmz c.1042C>T, p.R348 | Epilepsy, ataxia | Decreased | 10 mg/kg/d, 6 m | NA | NA | Improvement in ataxia |
| 7 | comp. htz c.[1523T>C] exon13 + del exons 3 to 15 p.[Phe508Ser] | Hand dystonia, ataxia, tremor and myoclonus | NA | 100 mg TID, 15 m | 9.5 | 6.5 | Improvement in dystonia, myoclonus, and ataxia |
| 7 | comp. htz c.[895C>T]+[1358delT] exons 7 and 11 p.[Arg299Trp]+[Leu453Argfs*24] | Gait ataxia and tremor at 12 | Normal | 100 mg TID, 8 m | 11.5 | NA | Improvement in tremor |
| 7 | hmz c.[811C>T] exon 6 p.[Arg271Cys] | Truncal ataxia, dystonia, chorea | Decreased | 30 mg/kg/d, 3 y | NA | NA | No improvement |
| 7 | hmz c.[589‐3C>G] intron 3 p.[Leu197Valfs*20] | Gait ataxia | NA | 400 mg TID, 12 m | 7 | 7 | No improvement |
| 7 | hmz c.[589‐3C>G] intron 3 p.[Leu197Valfs*20] | Gait ataxia | NA | 400 mg TID, 12 m | 10 | 9 | Improvement in ataxia |
| 7 | hmz c.[1081‐1_1082dupGTA] intron 8 / exon 9 p.[Gln360_Tyr361ins*] | Ataxia, transient chorea | NA | 400 mg BID, 12 m | 15 | NA | No improvement |
| 3 | comp. htz c.1750_1752delACC, p. Thr584delACC p.P502R | Delayed development, ataxia, psychiatric | NA | 20 kg/mg/d, 6 y | NA | NA | Improvement in motor skills |
| 4 | hmz c.1844_1845insG, p.Ser616Leufs*114 | Myoclonus, tremor, ataxia | Decreased | 200 mg BID, 6 m | 17 | 13 | Improvement in myoclonus, tremor, and ataxia |
| 9 | hmz c.895C > T, p.Arg99Trp | Epilepsy, ataxia | Decreased | 300 mg TID, 6 m | 7 | NA | No improvement |
| comp. htz c.895C > T, p.Arg229Trp, c.1732T > G, p.Phe578Val | Epilepsy, stroke‐like, ataxia | Decreased | 300 mg TID, 6 m | 11 | 6 | Improvement in ataxia | |
| hmz c.895C > T, p.Arg299Trp | Ataxia, epilepsy | NA | Deoxyubiquinone 1000 mg/d, 4 y | 33 | NA | No improvement | |
| 8 | hmz c.[1511_1512delCT], p.Ala504fs | Ataxia | Decreased | 400 mg/d, 1 y | 13 | 10 | Improvement in ataxia |
Abbreviations: BID, twice a day; comp. htz, compound heterozygous; CoQ10, coenzyme Q10; hmz, homozygous; m, month; NA, Not available; SARA, Scale for the assessment and rating of ataxia; TID, three times a day; y, year.