Table 1.
Overview of the patients and controls.
| Subjects | Sex | Age (y) | Hematocrit (%) | Hemoglobin (g/dL) | RBC Number () | Main Clinical Characteristics | Disease Duration | Acanthocyte Count (%) | Medication |
|---|---|---|---|---|---|---|---|---|---|
| ChAc-1 | m | 53 | 43 | 15.1 | 4.67 | parkinsonism, dystonia, dysarthria, peripheral neuropathy, depression | 15 | 40 | scopoderm transdermal therapeutic system/day |
| ChAc-2 | f | 51 | 40 | 13.8 | 4.21 | epilepsy, parkinsonism dystonia, dysarthria, peripheral neuropathy, cognitive impairment | 30 | 5 | levetiracetam 4 g/day, valproate 2 g/day, clobazam 10 mg/day, zonisamide 200 mg/day, vitamin D |
| ChAc-3 | m | 54 | 40 | 14.2 | 4.15 | epilepsy, parkinsonism, dystonia, dysarthria, dysphagia, peripheral neuropathy, cognitive impairment | 21 | 10 | lamotrigine 110 mg/day, oxcarbazepine 1.5 g/day, lacosamide 300 mg/day, levodopa 300 mg/day, esomeprazole 40 mg/day |
| ChAc-4 | m | 34 | 46 | 16.2 | 5.40 | drug-resistant epilepsy, mild chorea, tics, cognitive impairment, peripheral neuropathy, myopathy | 11 | 4 | lacosamide 550 mg/day, zonisamide 300 mg/day, perampanel 4 mg/day, vitamin D, PRN: lorazepam/midazolam |
| ChAc-5 | m | 29 | 43 | 15.7 | 4.91 | drug-resistant epilepsy, mild chorea, tics, cognitive impairment, irritability, anxiety, depression, psychosis | 15 | 11 | lacosamide 600 mg/day, zonisamide 400 mg/day, mirtazapine 15 mg/day, olanzapine 2.5 mg/day, vitamin D, PRN: lorazepam/midazolam |
| ChAc-6 | m | 42 | 41 | 15.2 | 4.96 | epilepsy, feeding dystonia, orofacial dyskinesia, chorea, peripheral neuropathy, myopathy, impulse control disorder | 12 | 5 | levetiracetame 1 g/day, quetiapine 400 mg/day, ramipril 2.5 mg/day, metoprolol 47.5 mg/day, PRN: metamizole, ibuprofen, pantoprazole |
| MLS-1 | m | 58 | 43 | 16.0 | 4.82 | myopathy | 15 | 2 | magnesium, St. John’s wort extract, pumpkin seed preparation, PRN: pantoprazol |
| MLS-2 | m | 51 | 42 | 15.3 | 4.67 | epilepsy, peripheral neuropathy, myopathy | 40 | 32 | levetiracetame 2 g/day, lamotrigine 400 mg/day, candesartan 8 mg/day, vitamin D, PRN: methylprednisolone |
| MLS-3 | m | 52 | 45 | 16.2 | 5.17 | neuropathy, myopathy | 18 | 24 | No medication |
| female controls (average, N = 4) |
64 ± 10 | 38.5 ± 2.6 | 12.6 ± 1.3 | 4.36 ± 0.19 | — | — | 0 | — | |
| male controls (average, N = 4) |
38 ± 11 | 43.4 ± 2.1 | 15.5 ± 0.8 | 5.17 ± 0.1 | — | — | 0 | — | |