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

G287S

62.3 ± 9.3

Bulbar, Spinal

76 ± 15.4

Y

Y

N

[121, 258, 259]

G290A

49.5 ± 2.1

Bulbar, Spinal

12^a

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]

Q331K^b

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]

N390D^c

53

Spinal

35

Y

Y

N

[121]