Table 1.
Patient characteristics.
| Age | EOA onset | EOA duration# | Ambulant n (%) | 2ndMD features video 2/3 obs; n (%) | Disease co-morbidity | Medicationˆ | |
|---|---|---|---|---|---|---|---|
| Total group (n = 28)$ | 15.5 (6–34) | 3 (0–11) | 11 (3–25) | 19 (68) | |||
| EOAMY OPATHIC (n = 11)$ | 17 (8–27)ns | 4 (1–11) | 7 (3–25)ns | 4 (36) | Hypertr cardiomyo (n = 6) Tachycardia (n = 2) Scoliosis (n = 2) Insulin deficiency (n = 1) AV-block (n = 1) Hypoparathyroidism (n = 1) | Idebenone (n = 5) Amiodaron (n = 1) Baclofen (n = 1) Magnesium (n = 1) Carbamazepine (n = 1) | |
| EOAMY OCL (n = 4) | 15 (6–25)ns | 3 (1–3) | 13 (3–22)ns | 4 (100) | 3 (75) Myoclonus | Refractory epilepsy (n = 3) | Valproic acid (n = 2) Levetiracetam (n = 2) Clonazepam (n = 3) Clobazam (n = 1) Topiramate (n = 1) |
| EOAOTHER (n = 13) | 15 (8–34) | 2 (0–11) | 13.5 (8–23) | 11 (85) | 2 (15) Dystonia 2 (15) Chorea | IgA-deficiency (n = 1) | Miglustat (n = 1) Sultiame (n = 1) Levetiracetam (n = 2) Valproaic acid (n = 1) Clonazepam (n = 1) Dipiperon (n = 1) Melatonin (n = 1) Concerta (n = 1) |
| EOANON-MOY P (n = 17) | 15 (6–34)ns | 2 (0–11) | 13.5 (3–23)ns | 15 (88) | |||
| EOANON-MY OCL (n = 24) | 15.5 (8–34)ns | 3 (0–11) | 11 (3–25)ns | 15 (63) |
EOA, early onset ataxia; EOA onset and duration: median value (range); # = scores are normally distributed; ambulant: number (%) ambulant patients; 2ndMD features video 2/3 obs = number (%) of secondary movement disorder features recognized by all 2 of the 3 observes; Medicationˆ = medication with published side effects on motor function; Hypertr cardiomyo, hypertrophic cardiomyopathy; $ = data about disease onset and disease duration missing in 1 patient; EOAMYOPATHIC, EOA with reported comorbid myopathy; EOANON-MYOP, EOA and absent comorbid myopathy (EOAMYOCLONUS + EOAOTHER); EOAMYOCL, EOA with comorbid myoclonus; EOANON-MYOCL, EOA and absent comorbid myoclonus (EOAMYOPATHIC + EOAOTHER); ns, age and disease duration did not significantly differ between EOAMYOPATHIC and EOANON-MYOP and between EOAMYOCL and EOANON-MYOCL (Mann–Whitney U; Student’s t-test).