Table 1.
Demographic and clinical characteristics of patients according to ATXN2 PolyQ intermediate number of repeats (ATXN2+, PolyQ≥31; ATXN2−, PolyQ≤30)
| ATXN2+ (n=42) | ATXN2− (n=1288) | P value | |
| Age at onset (median, IQR) | 69.6 (63.5–75.7) | 68.3 (60.3–74.4) | 0.15 |
| Gender (female) | 15 (35.7%) | 575 (44.6%) | 0.25 |
| Site of onset (bulbar) | 7 (16.7%) | 393 (30.5%) | 0.05 |
| Diagnostic delay (months, IQR) | 6.0 (3.94–10.03) | 9.04 (5.88–13.97) | 0.004 |
| ALSFRS-R score at diagnosis (median, IQR) | 42 (34.75–44) | 42 (37–45) | 0.13 |
| ΔALSFRS-R (median points/month, IQR) | 1.00 (0.50–1.99) | 0.66 (0.31–1.33) | 0.004 |
| FVC% at diagnosis (median, IQR)* | 89 (74–105) | 91 (72–104) | 0.81 |
| ΔWeight (kg/month, median, IQR)† | 0.50 (0–1.26) | 0.28 (0–0.96) | 0.87 |
| MiToS stage at diagnosis (0/1/2/3/4) | 27/12/2/1/0 | 858/374/42/10/2 | 0.80 |
| King’s state at diagnosis (1/2/3/4) | 14/14/11/3 | 530/409/293/50 | 0.59 |
| ΔKing’s (median points/month, IQR) | 0.25 (0.17–0.53) | 0.19 (0.10–0.34) | 0.004 |
| ALS-FTD‡ | 7 (28.0%) | 121 (13.4%) | 0.037 |
*FVC, 1222 (ATXN2+, 38; ATXN2−, 1184).
†Weight 1288 (ATXN2+, 40; ATXN2−, 1246).
‡928 cases (ATXN2+, 25, ATXN2−, 903)