Characteristics of affected and unaffected individuals according to their spinocerebellar ataxias (SCA) genotype
| SCA1 | SCA2 | SCA3 | SCA6 | |||||
|---|---|---|---|---|---|---|---|---|
| Affected | Unaffected | Affected | Unaffected | Affected | Unaffected | Affected | Unaffected | |
| n | 317 | 50 | 308 | 31 | 399 | 26 | 163 | 16 |
| Gender (M) | 169 (53%) | 15 (30%) | 164 (53%) | 20 (65%) | 199 (50%) | 11 (42%) | 81 (50%) | 5 (31%) |
| Age at onset (affected)/last examination (unaffected) | 38±11 [11–75] | 30±8 [18–51] | 36±13 [7–71] | 31±9 [18–47] | 40±12 [10–78] | 35±7 [23–50] | 53±11 [24–77] | 47±9 [35–68] |
| Expanded allele | 47±5 [39–66] | 47±4 [40–63] | 39±3 [33–54] | 38±2 [33–43] | 68±4 [54–77] | 68±3 [61–73] | 23±2 [21–29] | 21±1 [21–23] |
| Shorter allele | 30±2 [26–37] | 31±1 [29–36] | 22±1 [15–29] | 23±2 [22–32] | 21±5 [14–35] | 20±5 [14–28] | 13±1 [7–16] | 10±2 [6–13] |
| SARA | 15±8 [3–40] (n=84) | 1±1 [0–2.5] | 15±8 [3–39] (n=114) | 1±1 [0–2.5] | 15±8 [3–35.5] (n=98) | 1±1 [0–2.5] | 15±6 [5.5–33] (n=80) | 1±1 [0–2.5] |
Data are expressed as n (%) or mean±SD with the range in brackets [min-max].
SARA, Scale for the Assessment and Rating of Ataxia.