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Table 1 Clinical characteristics of human SOD1 mutations reproduced in animal models

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

Mutation Mean age at onset (y ± SD) Site at onset Survival (yr ± SD) Clinical manifestations References
UMN LMN Cognitive symptoms Neuropathological findings
A4V 47.8 ± 13.3 Limbs 1.4 ± 0,9 Mild Y, Pred N LBHI, NCI [53, 232, 233]
G37R 40.0 ± 9.9 Limbs 18.7 ± 11.4 Y Y N LBHI [22, 43, 54]
H46R 49.6 ± 10.9 Legs 17.3 ± 10.7 Y Y, Pred N LBHI [55, 234]
H48Q 54 nd 8 months nd Y, Pred nd LBHI,SLI [56, 235]
L84V 53.8 ± 15.3 Arms 1.6 ± 0.5 Y Y, Pred N nd [236, 237]
D83G 55 Legs 6 Y Y, Pred N nd [46]
G85R nd nd nd nd nd nd nd [43]
D90A 44 Legs 13 Y Y nd nd [45, 52]
G93A 47.4 ± 12.4 Limbs 10.0 ± 6.2 nd nd N nd [22, 43]
I113T 58.9 ± 12.6 Limbs 3.5 ± 2.8 nd Y, pred Y NFT, ICAI, HC, NFCI [22, 43, 50, 57, 238240]
L126Z 58 nd 4 nd Y nd LBHI [58, 241]
G127X 50 Limbs 2.8 Y Y nd nd [242]
  1. nd not described, UMN upper motor neuron signs, LMN lower motor neuron signs, N no, Y yes, Pred predominant, LBHI lewy-body-like hyaline inclusion, NCI neuronal cytoplasmic inclusion, SLI skein-like inclusion, HC hyaline conglomerate, ICAI intracytoplasmic argyrophilic inclusion (neurofilament accumulation), NFCI neurofilamentous conglomerate inclusion