Table 1.
Clinical features for COQ5 patient 5 compared to reported symptomology for 4 previous COQ5 patients
| # | Features | Najmabadi et al. (2011) | Malicdan et al. (2018) | Present report | ||
|---|---|---|---|---|---|---|
| Patient | Patient 1 | Patient 2 (III.4) | Patient 3 (III.3) | Patient 4 (III.6) | Patient 5 | |
| Mutation | c.352G>A p.(Gly118Ser)hom | c.575-1761_*1489dup p.(?) | c.575-1761_*1489dup p.(?) | c.575-1761_*1489dup p.(?) | c.352G>A/681+1G>A p.Gly118Ser/? | |
| Gender | nd | Female | Female | Female | Female | |
| Current age | nd | nd | nd | nd | 10 years | |
| Parental consanguinity | Yes | No | No | No | No | |
| Ethnicity | nd | Iraqi-Jewish | Iraqi-Jewish | Iraqi-Jewish | Polish | |
| 1 | Encephalomyopathy | nd | + | + | + | − |
| 2 | Cerebellar ataxia (non-progressive) | nd | + | + (mild) | + | + |
| 3 | Encephalopathy | nd | + | + | + | + |
| 4 | Generalized tonic clonic seizures | nd | + (17 years old several) | + (22 years old single) | + | − |
| 5 | Developmental delay | nd | + | + | + | + |
| 6 | Short stature | nd | + | nd | + | + (−3.19 SDS 9 years old) |
| 7 | Delay in motor milestones development | nd | + (moderate) | nd | + (mild) | + |
| 8 | Delay in cognitive milestones | nd | + (moderate) | nd | nd | + |
| 9 | Dysarthria | nd | + | + (mild) | + (mild) | na (lack of speech) |
| 10 | Mild-moderate cognitive disability | nd | + | below average intelligence | nd | regression after 6 months |
| Behavioral problems | ||||||
| 11 | Impulsivity | nd | + | nd | nd | + |
| 12 | Attention deficiency | nd | + | nd | nd | + |
| 13 | Oppositional defiant disorder | nd | + | nd | nd | − |
| 14 | Myoclonic jerks | nd | + (12 years old) | + (20 years old) | nd | − |
| 15 | Epilepsy | nd | + | nd | nd | − |
| 16 | Microcephaly | nd | − | − | − | + (−3.56 SDS 9 years old) |
| 17 | Nystagmus | nd | + | + (horizontal) | + (horizontal) | − |
| 18 | Slow saccades | nd | + | nd | nd | − |
| 19 | Saccadic movements | nd | + | nd | + | − |
| 20 | Apraxic gaze | nd | + | nd | nd | − |
| 21 | Fundoscopy | nd | normal | nd | nd | − |
| 22 | Dysarthric cerebellar speech | nd | + | nd | nd | na (lack of speech) |
| 23 | Dysmetria in finger-to-nose test | nd | + | nd | − | − |
| 24 | Postural and intention tremor | nd | + | nd | − | − |
| 25 | Ataxic gait | nd | + | + (mild) | nd | na (lack of gait) |
| 26 | Dysmetria and oculomotor apraxia | nd | + (mild) | nd | − | |
| 27 | Abnormal gait pattern | nd | + | + | abnormal tandem walking identified at 14 years old | na (lack of gait) |
| 28 | Lower limb spasticity | nd | + (mild) | nd | + | + |
| 29 | Cerebellar atrophy | nd | + (non-progressive) | + (mild) | nd | + |
| 30 | EEG | nd | infrequent generalized polyspike-wave discharges | infrequent generalized polyspike-wave discharges | nd | normal |
| 31 | Nerve conduction study | nd | normal | nd | nd | nd |
| 32 | Cardiac echocardiogram | nd | normal | nd | nd | normal |
| Morphology and biochemistry | ||||||
| 33 | Complete blood count | nd | normal | nd | nd | normal |
| 34 | Electrolyte levels | nd | normal | nd | nd | normal |
| 35 | Creatine phosphokinase | nd | normal | nd | nd | normal |
| 36 | Liver and renal function tests | nd | normal | nd | nd | normal |
| 37 | Carnitine and acyl-carnitine | nd | normal | nd | nd | normal |
| 38 | Copper | nd | normal | nd | nd | normal |
| 39 | Ceruloplasmin | nd | normal | nd | nd | nd |
| 40 | Thyroid function tests | nd | normal | nd | nd | normal |
| 41 | Lactate | nd | normal | nd | nd | normal |
| 42 | Pyruvate | nd | normal | nd | nd | nd |
| 43 | Ammonia | nd | normal | nd | nd | nd |
| 44 | Blood amino acid profile | nd | normal | nd | nd | normal |
| 45 | Very long chain fatty acids | nd | normal | nd | nd | nd |
| 46 | Phytanic acid | nd | normal | nd | nd | nd |
| 47 | Homocysteine | nd | normal | nd | nd | normal |
| 48 | Isoelectric focusing of transferrin | nd | normal | nd | nd | nd |
| 49 | Alpha-fetoprotein | nd | normal | nd | nd | nd |
| 50 | Quantitative immunoglobulin levels | nd | normal | nd | nd | nd |
| 51 | Vitamin E levels | nd | normal | nd | nd | nd |
| 52 | Urine for protein | nd | normal | nd | nd | normal |
| 53 | Urine for organic acids | nd | normal | nd | nd | normal |
| 54 | Dysmorphia | nd | − | nd | nd | + |
| 55 | COQ10 enzyme tests values in leukocytes before COQ treatment | nd | 65 pmol/μg* | 78 pmol/μg* | 72 pmol/μg* | 0.6 mg/l** |
| 56 | COQ10 enzyme tests values in leukocytes after COQ treatment | nd | after 3-month treatment: 293 pmol/μg* | after 3-month treatment: 332 pmol/μg* | after 3-month treatment: 279 pmol/μg* | after 2-month treatment: 0.7 mg/l** |
| 58 | Other biochemical tests abnormalities | nd | III.4 | III.3 | III.6 | nd |
nd no data, na not applicable
*Normal range 119.86 ± 24.23
**Normal range > 0.67 mg/l