Table 2.
A summary of the pathological features in the 7 cases of ALS-FUS
| Case | Frontal Cx | Temp Cx | Hippo | BG Put/GP | Amy | Motor | Mid brain Nigra | Medulla XII | Spinal cord | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | FUS -ve | FUS -ve | FUS -ve | FUS -ve | FUS -ve | FUS/p62 | FUS/p62: | FUS: | Ant horn: Moderate neuronal loss. | |
| TDP -ve | TDP -ve | TDP -ve | TDP -ve | TDP -ve | NCI + | NCI + | NCI + | Numerous basophilic inclusions | ||
| p62 -ve | p62 -ve | p62 -ve | p62 –ve | p62-ve | GCI -ve | GCI + | GCI ++ | FUS/p62 : NCI ++, GCI +++ | ||
| TDP-ve | TDP-ve | P62: | ||||||||
| CD 68 + | NCI + | TDP -ve | ||||||||
| GCI + | ||||||||||
| TDP-ve | Lat. c-spinal tracts myelin loss: very mild | |||||||||
| 2 | FUS -ve | FUS -ve | FUS -ve | FUS/p62 | FUS -ve | FUS: | FUS/p62: | FUS/p62: | Ant horn: Moderate neuronal loss. | Mild FUS in cerebellar dentate |
| TDP -ve | TDP -ve | TDP -ve | NCI ++ | TDP -ve | NCI + | NCI ++ | NCI ++ | Moderate basophilic inclusions | ||
| p62 -ve | p62 -ve | p62 -ve | GCI++ | p62 –ve | GCI + | GCI ++ | GCI +++ | FUS: NCI ++, GCI ++ | ||
| TDP-ve | P62: | TDP-ve | TDP-ve | p62: NCI +, GCI ++ | ||||||
| NCI -ve | ||||||||||
| GCI + | TDP -ve | |||||||||
| TDP –ve | ||||||||||
| CD68 + | Lat. c-spinal tracts myelin loss: mild | |||||||||
| 3 | FUS -ve | FUS -ve | FUS -ve | NA | NA | FUS/p62: | FUS/p62: | FUS: | Ant horn: Severe neuronal loss. | |
| TDP -ve | TDP -ve | TDP -ve | -ve | NCI + | Moderate basophilic inclusions | |||||
| p62 -ve | p62 -ve | p62 -ve | TDP -ve | NCI + | GCI -ve | FUS: NCI -ve, GCI + | ||||
| CD68 + | GCI + | P62: | p62: NCI +, GCI + | |||||||
| TDP-ve | NCI -ve | |||||||||
| GCI + | TDP -ve | |||||||||
| TDP-ve | Lat. c-spinal tracts myelin loss: very mild | |||||||||
| 4 | FUS -ve | NA | FUS -ve | FUS: | FUS -ve | FUS: | FUS -ve | FUS: | Ant horn: Severe neuronal loss. | Mild FUS in cerebellar dentate |
| TDP--ve | TDP -ve | NCI+ | TDP -ve | NCI + | p62: | NCI -ve | Moderate basophilic inclusions | |||
| p62 -ve | p62 -ve | GCI ++ | p62 -ve | GCI + | NCI + | GCI + | FUS: NCI ++, GCI ++ | |||
| p62: | P62: | GCI ++ | P62: | p62: NCI ++, GCI +++ | ||||||
| NCI++ | GCI ++ | TDP-ve | NCI + | |||||||
| GCI++ | TDP-ve | GCI +++ | TDP -ve | |||||||
| TDP-ve | CD68 + | TDP-ve | ||||||||
| Lat. c-spinal tracts myelin loss: very mild | ||||||||||
| 5 | FUS -ve | FUS -ve | FUS -ve | FUS: | FUS -ve | FUS/p62: | FUS: | FUS: | Ant horn: Severe neuronal loss. | |
| TDP -ve | TDP -ve | TDP -ve | NCI + | TDP -ve | NCI + | NCI -ve | NCI ++ | Occasional basophilic inclusions | ||
| p62 -ve | p62 -ve | p62 -ve | GCI+ | p62 -ve | GCI + | GCI + | GCI ++ | FUS: NCI ++, GCI ++ | ||
| P62-ve | TDP-ve | P62: | P62: | p62: NCI +, GCI +++ | ||||||
| TDP-ve | CD68 + | NCI + | NCI -ve | |||||||
| GCI + | GCI ++ | TDP -ve | ||||||||
| TDP-ve | TDP-ve | |||||||||
| Lat. c-spinal tracts myelin loss: mild | ||||||||||
| 6 | FUS -ve | FUS -ve | FUS -ve | FUS: | FUS -ve | FUS: | FUS/p62: | FUS: | Ant horn: Severe neuronal loss. | |
| TDP -ve | TDP –ve | TDP –ve | NCI + | TDP -ve | NCI + | NCI ++ | Moderate basophilic inclusions | |||
| GCI+ | P62: | GCI + | NCI + | GCI ++ | FUS: NCI ++, GCI ++ | |||||
| p62 : | p62 : | p62 : | p62: | NCI + | P62: | GCI + | P62: | p62: NCI +++, GCI +++ | ||
| NCI +++ | NCI +++ | NCI + | NCI+ | GCI + | NCI++ | TDP-ve | NCI ++ | |||
| GCI+++ | GCI+++ | GCI+ | GCI++ | GCI++ | GCI +++ | TDP -ve | ||||
| Neur +++ | Neur ++ | Neur ++ | TDP-ve | TDP-ve | TDP-ve | |||||
| CD68 +++ | Lat. c-spinal tracts myelin loss: very mild | |||||||||
| 7 | FUS -ve | FUS -ve | FUS -ve | FUS: | FUS -ve | FUS/p62: | FUS: | FUS: | Ant horn: Severe neuronal loss. | TAU + in hippo |
| TDP--ve | TDP -ve | TDP -ve | NCI ++ | TDP -ve | NCI + | NCI -ve | NCI ++ | Occasional basophilic inclusions | ||
| p62 -ve | p62 -ve | p62 -ve | GCI++ | P62: | GCI + | GCI + | GCI + | FUS: NCI +, GCI ++ | ||
| p62: | NCI -ve | TDP-ve | P62: | P62: | p62: NCI +, GCI + | |||||
| NCI -ve | GCI + | CD68 + | NCI + | NCI + | ||||||
| GCI + | GCI –ve | GCI +++ | TDP -ve | |||||||
| TDP-ve | TDP -ve | TDP-ve | ||||||||
| Lat. c-spinal tracts myelin loss: mild |
Amy Amygdala, Ant anterior, BG Basal ganglia, C-spinal Corticospinal, Cx Cortex, GCI Glial cytoplasmic inclusions, GP globus pallidus, Hippo Hippocampus, Lat lateral, NA Not available, NCI Neuronal cytoplasmic inclusions, Neur Neurites, Put Putamen, TDP TDP-43, XII XIIth nerve nucleus, -ve Not present, + small numbers/low density, ++ moderate numbers/moderate density, +++ large numbers/high density