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

King, Andrew; Troakes, Claire; Smith, Bradley; Nolan, Matthew; Curran, Olimpia; Vance, Caroline; Shaw, Christopher E.; Al-Sarraj, Safa

doi:10.1186/s40478-015-0235-x

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
				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
							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
	Neur +++	Neur ++	Neur ++	TDP-ve		CD68 +++		TDP-ve	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
				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

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ISSN: 2051-5960

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