Table 1.
Summary of the main characteristics of the MinE cohort
| Cases (n = 6013) | Controls (n = 2411) | |
|---|---|---|
| Sex | ||
| Female, n | 2399 (39.90%) | 1140 (47.28%) |
| Male, n | 3614 (60.10%) | 1271 (52.72%) |
| Age at onset | ||
| Number of patients for whom data was available | 5878 | – |
| Mean age at onset, years | 60.35 | – |
| Age at time of blood sample | ||
| Number of patients for whom data was available | 4883 | 2197 |
| Mean age at time of blood sample, years | 62.20 | 61.30 |
| Site of onset | ||
| Bulbar | 1617 (26.89%) | – |
| Spinal | 3916 (65.13%) | – |
| Generalized | 201 (3.34%) | – |
| Thoracic/respiratory | 107(1.78%) | – |
| FTD | 7 (0.12%) | – |
| Unknown | 165 (2.74%) | – |
| El Escorial (most recent value) | ||
| Definite | 1385 (23.03%) | – |
| Probable | 2309 (38.40%) | – |
| Possible | 515 (8.56%) | – |
| Suspected | 57(0.95%) | – |
| Unknown | 1747 (29.05%) | – |
| C9orf72 RE status | ||
| Expanded | 313 (5.21%) | 7 (0.29%) |
| Intermediate | 18 (0.30%) | 4 (0.17%) |
| Normal | 5659 (94.11%) | 2397 (99.42%) |
| Inconsistent | 22 (0.37%) | 0 (0%) |
| Unknown | 1 (0.02%) | 3 (0.12%) |
Numbers in parentheses refer to percentage of total. RE = repeat expansion.