Table 2

Disease characteristics by mutated gene

Patient groupsSOD1TARDBPFUSOther FALS
M:F ratio1.2:1 (n=55)1:1.87 (n=23)1.23:1 (n=29)2:1 (n=126)
Age at onset (years)
 Mean55 (SE 2, n=38)54 (SE 4, n=17)45 (SE 3, n=23)58 (SE 1, n=115)
 Median55 (SE 2, n=38)58 (SE 5, n=17)47 (SE 7, n=23)58 (SE 2, n=115)
 Cox regression test*p=0.004
Disease duration (months)
 Mean79 (SE 14, n=38)58 (SE 9, n=17)30 (SE 4, n=23)45 (SE 5, n=100)
 Median36 (SE 10, n=38)51 (SE 9, n=17)26 (SE 3, n=23)32 (SE 2, n=100)
 Cox regression test*p=0.005
Lifespan (years)
 Mean59 (SE 2, n=45)59 (SE 4, n=21)46 (SE 2, n=29)61 (SE 1, n=101)
 Median59 (SE 2, n=45)60 (SE 5, n=21)45 (SE 6, n=29)59 (SE 2, n=101)
 Cox regression test*p<0.0001
Mean bulbar score3.7 (SE 1, n=13)11.7 (SE 3.2, n=7)3.6 (SE 0.7, n=9)9.3 (SE 1.4, n=50)
Cognitive impairments§0/202/101/1310/62
  • * Equality of survival distribution between SOD1, TARDBP, FUS and other familial amyotrophic lateral sclerosis (FALS) groups was analysed using a Cox regression test. If the difference was significant p<0.05, the groups were compared by pairs using a log rank test.

  • Disease duration and age at death data included censored data (8 for SOD1, 2 for TARDBP, 2 for FUS, and 11 for other FALS).

  • The difference between initial (at onset) and final (at the end of the disease) bulbar Norris scale (13 items) was recorded for each patient. Means were compared using one way analysis of variance (ANOVA).

  • § The fraction represents the number of patients with cognitive impairment/total number of patients who were examined for cognitive deficits.

  • n, number of patients for whom the information was available; NA, data not available.