Table 1. Main Qualitative Variables of Patients With AOA1 .
| Qualitative Variable | No. (%) of Patients With AOA1 (Nā=ā80) |
|---|---|
| Consanguinity | 48 (60) |
| Oculomotor apraxia | 49 (61) |
| Hypometric saccades | 59 (74) |
| Nystagmus | 49 (61) |
| Saccadic pursuit | 57 (71) |
| Horizontal strabismus | 20 (25) |
| Oculocephalic dissociation | 40 (50) |
| Head thrust | 36 (45) |
| Pes cavus | 30 (38) |
| Scoliosis | 27 (34) |
| Pyramidal signs | 9 (11) |
| Intellectual disability | 42 (53) |
| Current chorea | 32 (40) |
| Chorea disappearing during the course of the disease | 6 (8) |
| Dystonia | 20 (25) |
| Parkinsonism | 2 (3) |
| Tremor | 52 (65) |
| Myoclonus | 8 (10) |
| Peripheral neuropathy | 75 (94) |
| Cerebellar atrophy | 79 (99) |
| Elevated AFP level (<7 ng/mL) | 33 (41) |
| Decreased albumin level (3.5-4.8 g/dL) | 50 (63) |
| Elevated total cholesterol level (0.5 -2 g/L) | 45 (56) |
| Elevated LDL cholesterol level (<1.60 g/L) | 34 (43) |
| Elevated CK level (10-200 U/L) | 23 (29) |
Abbreviations: AFP, Ī±-fetoprotein; AOA1, ataxia with oculomotor apraxia type 1; CK, creatine kinase; LDL, low-density lipoprotein.
SI conversion factors: To convert AFP to micrograms per liter, multiply by 1.0; total and LDL cholesterol to millimoles per liter, multiply by 0.259; and CK to microkatals per liter, multiply by 0.0167.