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Table 3 Clinical characteristics of human TDP-43 mutations reproduced in animal models

From: From animal models to human disease: a genetic approach for personalized medicine in ALS

Mutation Age at onset (years ± SD) Site at onset Survival (months ± SD) Clinical manifestations References
UMN LMN Cognitive symptoms Neuropathological findings
G287S 62.3 ± 9.3 Bulbar, Spinal 76 ± 15.4 Y Y N   [121, 258, 259]
G290A 49.5 ± 2.1 Bulbar, Spinal 12a Y Y N   [123]
G298S 50.7 ± 6.2 Bulbar, Spinal 27.0 ± 11.1 Y Y N Bunina bodies, gliosis, neuronal loss anterior horn, NCI, GCI [123, 124]
A315T 65.5 ± 13.6 Spinal 109.7 ± 32.3 Y Y N Gliosis, spinal neuronal loss, NCI, neurofibrillary tangles, Aβ deposit [120, 121, 124, 260]
Q331Kb 72 Spinal 36 nd nd nd   [122]
M337V 47.7 ± 8.8 Bulbar, Spinal 105.0 ± 59.6 Y Y N NCI, GCI, Bunina bodies [122, 124, 258, 259, 261]
G348C 46.4 ± 10.7 Spinal 81.3 ± 37 Y Y Apathy, anxiety   [121, 124]
A382T 51.3 ± 8.6 Bulbar, Spinal 58.1 ± 44.4 Y Y Dementia   [121, 124, 126, 258]
N390Dc 53 Spinal 35 Y Y N   [121]
  1. Y yes, N no, nd not described, NCI neuronal cytosolic inclusion, GCI glial cytosolic inclusion
  2. aPrecise duration of disease was not mentioned
  3. bLimb-onset ALS in a single case
  4. cLimb-onset ALS in a single case