Table 2. Main Quantitative Variables of Patients With AOA1.
| Quantitative Variables (n = 80) |
Median (Range) | Mean (SD) |
|---|---|---|
| Age at onset, y | 6 (2-40) | 7.7 (7.4) |
| Age at examination, y | 26 (9-59) | 28.5 (13.7) |
| Duration of disease, y | 17 (4-52) | 20.9 (12.6) |
| Age at wheelchair use (n = 40), y | 18 (4-57) | 20 (11.4) |
| Duration of disease until wheelchair use (n = 40), y | 11.8 (2-38) | 13.6 (8.6) |
| SARA score at last examinationa | 28 (6-37) | 26.4 (7.6) |
| SDFS score at last examinationb | 6 (3-7) | 5.5 (0.9) |
| Progression rate, SDFS:DD ratio | 0.3 (0.1-1.2) | 0.3 (0.2) |
| AFP level, ng/mL | 6.0 (1.1-17.0) | 6.6 (4) |
| Albumin level, g/dL | 3.25 (1.78-4.59) | 3.32 (0.65) |
| Total cholesterol level, g/L | 2.1 (1.0-3.8) | 2.2 (0.7) |
| LDL cholesterol level, g/L | 1.7 (0.8-3.2) | 1.7 (0.6) |
| CK level, U/L | 185 (32-360) | 168.4 (101.5) |
Abbreviations: AFP, α-fetoprotein; AOA1, ataxia with oculomotor apraxia type 1; CK, creatine kinase; DD, disease duration; LDL, low-density lipoprotein; SARA, scale for the assessment and rating of ataxia; SDFS, spinocerebellar degeneration functional score.
SI conversion factors: To convert AFP to micrograms per liter, multiply by 1.0; albumin to grams per liter, multiply by 10.0; total and LDL cholesterol to millimoles per liter, multiply by 0.259; and CK to microkatals per liter, multiply by 0.0167.
a
Score range from 0 to 40, with higher scores indicating more more severe ataxia.
b
Scores range from 1 to 7, with higher scores indicating severe impairment.