For one p.R406W patient with post-mortem brain examination, the protocol started with an 8–16-week fixation period using 10% buffered formalin. Five-micrometre slices were cut and a macroscopic quantification of localized atrophy took place. Samples from the frontal cortex, the temporal neocortex (superior temporal gyrus), the hippocampus, the striate area, the neostriatum, the basal ganglia, the substantia nigra, the thalamus, the mesencephalon, the pons, the medulla oblongata, the cerebellum and the spinal cord were studied. The latter region is not always studied as part of the standard protocol,39 (link),40 (link) but it was done in this case as the phenotype was bvFTD, which has been associated with concomitant motor neuron disease.
Immunohistochemical staining was performed to determine the nature of possible neuronal inclusions. To that end, anti-ubiquitin antibody (Dako), AT8 (for P-tau; Fujirebio Europe), 4G8 (for amyloid β; Signet), anti-FUS antibody (Proteintech Group Inc.), anti-trans-active response DNA binding protein of 43 kDa antibody (Proteintech Group Inc.) and anti-p62 antibody (BD Diagnostics) were used. The anti-FUS antibody is not always used as part of the standard protocol,39 (link),40 (link) but it is often included in bvFTD cases such as this one.
Immunohistochemical staining was performed to determine the nature of possible neuronal inclusions. To that end, anti-ubiquitin antibody (Dako), AT8 (for P-tau; Fujirebio Europe), 4G8 (for amyloid β; Signet), anti-FUS antibody (Proteintech Group Inc.), anti-trans-active response DNA binding protein of 43 kDa antibody (Proteintech Group Inc.) and anti-p62 antibody (BD Diagnostics) were used. The anti-FUS antibody is not always used as part of the standard protocol,39 (link),40 (link) but it is often included in bvFTD cases such as this one.
