Table 3

Summary data of review of the literature of patients with TBK1 variants

No of patients (variants)Clinical presentation*M/F*Mean age at onset
±SD (years)*
ALS
(fALS)
ALS-FTDFTDM+FMF
All110
(80)
57
(17)
161945/3960.4
±10.9
58.1
±11.3
62.0
±10
LoF59
(32)
30
(13)
101230/2462.5
±9.7
61.0
±9.6
64.3
±9.7
  • *For some patients reported data are not complete. Extensive data are presented in online supplementary table 4.

  • ALS, amyotrophic lateral sclerosis; F, female; fALS, familial ALS; FTD, frontotemporal dementia;  LoF, loss of function; M, male; TBK1, TANK-binding kinase 1.