TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis

Table 3 Summary of the αSyn_SAA results

Patient group	αSyn_SAA positive cases, % (n/N)
Patient group	Overall	Over TDP-43_SAA positive cases	Over TDP-43_SAA negative cases
Sporadic MND
sALS	9% (3/35)	13% (2/15)	5% (1/20)
bALS	11% (2/18)	29% (2/7)	0% (0/11)
PLS	0% (0/10)	0% (0/6)	0% (0/4)
FOSMN	0% (0/2)	0% (0/1)	0% (0/1)
Genetic MND
C9orf72^exp	17% (1/6)	0% (0/3)	33% (1/3)
TARDBP	25% (1/4)	0% (0/2)	50% (1/2)
SQSTM1	67% (2/3)	100% (2/2)	0% (0/1)
C9orf72^exp + SQSTM1	0% (0/1)	-	0% (0/1)
OPTN	0% (0/1)	0% (0/1)	-
GLE1	0% (0/1)	0% (0/1)	-
FUS	0% (0/1)	-	0% (0/1)
SOD1	0% (0/4)	-	0% (0/4)
Other Neurodegenerative Diseases
MSA	67% (4/6)	0% (0/6)	67% (4/6)
AD	33% (1/3)	0% (0/2)	100% (1/1)
DLB	100% (8/8)	100% (4/4)	100% (4/4)
CTRLs	0% (0/22)	0% (0/3)	0% (0/19)

A sample was considered positive if at least two of the three replicates reached the fluorescence threshold (30,000 AU) within 27 h. Abbreviations: MND = motor neuron disease; sALS = spinal-onset amyotrophic lateral sclerosis; bALS = bulbar-onset amyotrophic lateral sclerosis; PLS = primary lateral sclerosis; FOSMN = facial onset sensory and motor neuronopathy; C9orf72^exp = chromosome 9 open reading frame 72 expansion; TARDBP = TAR DNA-binding protein; SQSTM1 = sequestosome 1; OPTN = optineurin; GLE1 = GLE1 RNA export mediator; FUS = fused in sarcoma; SOD1 = superoxide dismutase type 1; MSA = multiple system atrophy; AD = Alzheimer's disease; DLB = dementia with Lewy body; CTRLs = controls

ISSN: 1750-1326