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Table 2 A summary of the pathological features in the 7 cases of ALS-FUS

From: ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

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
  1. 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