Fig. 2.

a Revealing a focus of neuronophagia in the anterior horn of the spinal cord in case 2 (p.K510E) with remnants of FUS immunopositivity. Anti-FUS. b-e Case 6 (p.P525L and p.Y374X TARDBP mutation) also does exhibit FUS-immunopositive neuronal cytoplasmic inclusions (b) in the anterior horns of the cord. These inclusions (c) are also immunopositive for p62. The p62 reveals additional neuronal positivity that does not appear to correspond to the FUS immunopositivity including more granular (d) and diffuse cytoplasmic staining (e). Double labelling for FUS (red) and p62 (green) in (e) inset shows co-localisation (yellow) in some neurons (arrowhead) but some p62 is not associated with FUS (arrow). Anti-FUS in (b). Anti-p62 in (c), (d) and (e). Anti-FUS and anti-p62 in (e) inset. f The cord in case 1 (p.R495X) revealing very mild loss of myelin in the lateral corticospinal tracts (arrows). LFB/N. Scale Bar (a)-(c) and (e)-30 μm, (e) inset-100 μm. (d)-40 μm, (f)-3000 μm