Table 1.
A summary of neuropathological findings from Case 1
| Brain region | Side | Vacuolation | Gliosis | TDP-43 | GA | GP | GR | PA | PR |
|---|---|---|---|---|---|---|---|---|---|
| aMCC | R | − | − | (+) | +++ | ++ | ++ | (+) | (+) |
| sACC | R | ++ | ++ | − | +++ | + | ++ | (+) | (+) |
| preCG | R | − | − | − | ++ | + | ++ | (+) | (+) |
| postCG | R | − | − | − | ++ | + | ++ | (+) | (+) |
| ITG | R | − | − | − | +++ | ++ | ++ | (+) | (+) |
| Calc ctx | R | − | − | − | ++ | + | + | − | − |
| ERC | R | − | − | − | +++ | ++ | ++ | (+) | (+) |
| Hip-DG | R | − | − | + | + | ++ | (+) | − | |
| Hip-CA3–4 | R | − | − | ++ | +++ | ++ | (+) | (+) | |
| Hip-CA2 | R | − | − | ++ | +++ | ++ | − | (+) | |
| Hip-CA1-subiculum | R | − | − | ++ | +++ | +++ | (+) | (+) | |
| Amygdala | R | ++ | − | +++ | +++ | + | (+) | (+) | |
| Thalamus (mPULV) | R | +++ | − | +++ | +++ | +++ | (+) | (+) | |
| vSTR | R | − | (+) | + | + | + | − | (+) | |
| Cerebellar cortex | L | − | − | +++ | +++ | +++ | − | (+) | |
| Cerebellum – DN | L | − | − | + | + | + | − | − | |
| Inferior olive | B | − | − | + | + | + | − | − | |
| SC - cervical AHCs | B | − | − | − | + | − | − | − | |
| SC - thoracic AHCs | B | − | − | + | + | − | − | − | |
| SC - lumbar AHCs | B | − | − | − | + | − | − | − | |
| SC - sacral AHCs | B | − | − | + | + | − | − | − |
Neurodegenerative changes and cellular inclusions were assessed using a semi-quantitative rating system. Vacuolation and gliosis were rated as – (absent), + (mild), ++ (moderate) and +++ (severe). TDP-43 NCIs and dipeptide repeat protein NCIs were rated as – (absent or 1–2 inclusions total per section), (+) (scarce), + (mild), ++ (moderate) and +++ (severe). Vacuolation was assessed only in cortical regions. DN = dystrophic neurites; aMCC = anterior midcingulate cortex; sACC = subgenual anterior cingulate cortex; preCG = precentral gyrus; postCG = postcentral gyrus; ITG = inferior temporal gyrus; Calc ctx = calcarine cortex; ERC = entorhinal cortex; Hip = hippocampus; vSTR = ventral striatum; SC = spinal cord; AHCs = anterior horn cells; L = left; R = right; B = bilateral.