Summary of previous analyses of survival by C9orf72 status
| Study | Population | C9orf72 normal | C9orf72 expanded | Median survival δ*(months) | Median age at onset δ*(years) | HR 95% (CI) |
|---|---|---|---|---|---|---|
| Byrne et al4 | Ireland | 170 | 21 | −6 | −3.2 | 1.9 (1.1 to 3.7) |
| Van Rheenen et al5 | The Netherlands | 1422 | 78 | −2.5 | −2.6 | 1.46 (1.17 to 1.83) |
| Sabatelli et al6 | Italy and Sardinia | 1688 | 69 | −12 | −3.8 | 1.79 (1.26 to 2.98) |
| Borghero et al7 | Sardinia | 375 | 51 | −18† | −0.9 | NA |
| Debray et al8 | Belgium | 513 | 77 | fALS −38.3 sALS −5.8 | fALS −5.9 sALS −0.3 | fALS 2.5 (1.5 to 4.3) sALS 1.1 (0.8 to 1.5) |
| García-Redondo et al9 | Spanish | 936 | 67 | −12 | −2.6‡ | NA |
| Irwin et al10§ | USA (Pennsylvania) | 69 | 64 | −6‡ | −3.0‡ | NA |
*Negative figures imply C9orf72 expanded survive for shorter time, or are younger at onset than C9orf72 normal cases.
†Calculate as median survival in C9orf72 expanded group—median survival in overall cohort median.
‡Calculated from mean data instead of median.
§Mixed ALS and FTD cases.
fALS, familial amyotrophic lateral sclerosis; sALS, sporadic amyotrophic lateral sclerosis.