Table 1.
Characterization and quantification of SOD1 inclusions, as well as diffuse cytosolic and granular cytoplasmic disSOD1 staining, in ventral spinal cord tissue sections from all post-mortem tissue cases
| Case no. | Diagnostic group | Disordered SOD1 inclusions | Intense diffuse staining | Quantification (%MNs) | |||
|---|---|---|---|---|---|---|---|
| Globular | Skein-like | Punctate | Inclusions + diffuse staining | Granular | |||
| 1 | Age-matched control | − | − | − | ✓ | + | +++ |
| 2 | Age-matched control | NA | NA | NA | NA | NA | NA |
| 3 | Age-matched control | − | − | − | − | − | +++ |
| 4 | Age-matched control | − | − | − | ✓ | + | +++ |
| 5 | Age-matched control | − | − | − | ✓ | + | +++ |
| 6 | Age-matched control | − | − | − | − | − | +++ |
| 7 | Age-matched control | − | − | − | ✓ | ++ | +++ |
| 8 | Age-matched control | − | − | − | ✓ | ++ | +++ |
| 9 | Age-matched control | − | − | − | − | − | +++ |
| 10 | Age-matched control | − | − | − | ✓ | + | +++ |
| 11 | fALS (SOD1, I113T) | ✓ | ✓ | ✓ | ✓ | ++++ | ++ |
| 12 | fALS (SOD1, I113T) | ✓ | − | ✓ | ✓ | ++++ | + |
| 13 | fALS (SOD1, D101G) | ✓ | ✓ | ✓ | ✓ | ++++ | + |
| 14 | fALS (C9ORF72) | − | − | ✓ | ✓ | + | + |
| 15 | fALS (unknown) | ✓ | − | ✓ | ✓ | ++ | ++ |
| 16 | fALS (C9ORF72) | ✓ | − | − | ✓ | + | + |
| 17 | fALS (C9ORF72) | ✓ | − | ✓ | ✓ | + | + |
| 18 | sALS | − | − | ✓ | − | ++++ | + |
| 19 | sALS | − | − | − | ✓ | + | − |
| 20 | sALS | − | − | − | ✓ | ++ | + |
| 21 | sALS | ✓ | ✓ | − | ✓ | + | + |
| 22 | sALS | ✓ | − | ✓ | ✓ | + | + |
| 23 | sALS | − | − | − | ✓ | ++ | ++ |
| 24 | sALS | − | − | ✓ | ✓ | + | + |
| 25 | sALS | − | − | ✓ | ✓ | ++ | ++ |
| 26 | sALS | NA | NA | NA | NA | NA | NA |
Staining was performed using 7 µm paraffin-embedded formalin-fixed tissue sections and B8H10, exposed dimer interface and UBB conformation-specific SOD1 primary antibodies. Fixed tissues were not available (NA) for some cases. The four morphologies of disSOD1 pathology were noted as present (✓) or absent (−), and the proportion of motor neurons exhibiting any of the four morphologies quantified. The number of motor neurons exhibiting granular disSOD1 immunostaining was also quantified within each spinal cord ventral horn, expressed as a proportion of the total number of motor neurons in that ventral horn. Quantification classifications: − = 0%, + = >0–25%, ++ = 26–50%, +++ = 51–75%, ++++ = 76–100%. MN = motor neuron; NA = tissue not available.