Table 4

Summary of previous analyses of survival by C9orf72 status

StudyPopulationC9orf72 normalC9orf72 expandedMedian survival δ*(months)Median age at onset δ*(years)HR 95% (CI)
Byrne et al4Ireland17021−6−3.21.9 (1.1 to 3.7)
Van Rheenen et al5The Netherlands142278−2.5−2.61.46 (1.17 to 1.83)
Sabatelli et al6Italy and Sardinia168869−12−3.81.79 (1.26 to 2.98)
Borghero et al7Sardinia37551−18†−0.9NA
Debray et al8Belgium51377fALS −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 al9Spanish93667−12−2.6‡NA
Irwin et al10§USA (Pennsylvania)6964−6‡−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.