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Table 2 Summary of TDP-43_SAA results

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

Patient group

TDP-43_SAA positive cases, % (n/N)

Lag-phase time, mean hours (SD)*

Last fluorescence value, mean AUs (SD)*

Sporadic MND

 sALS

43% (15/35)

23.4 (8.2)

227 933 (51 694)

 bALS

39% (7/18)

23.0 (10.1)

180 887 (82 122)

 PLS

60% (6/10)

18.9 (11.8)

173 091 (89 048)

 FOSMN

50% (1/2)

30.5 (NA)

217 558 (NA)

Genetic MND

 C9orf72exp

50% (3/6)

27.8 (3.8)

260 000 (0)

 TARDBP

50% (2/4)

30.2 (1.8)

234 936 (35 446)

 SQSTM1

67% (2/3)

19.2 (18.7)

256 962 (4 295)

 C9orf72exp + SQSTM1

0% (0/1)

NA

NA

 OPTN

100% (1/1)

20.0 (NA)

260 000 (NA)

 GLE1

100% (1/1)

6.5 (NA)

82 886 (NA)

 FUS

0% (0/1)

NA

NA

 SOD1

0% (0/4)

NA

NA

Other Neurodegenerative Diseases

 MSA

0% (0/6)

NA

NA

 AD

67% (2/3)

5.7 (1.1)

81 219 (13 158)

 DLB

50% (4/8)

9.0 (1.5)

60 091 (8 448)

CTRLs

14% (3/22)

18.8 (12.0)

79 319 (33 479)

  1. The average lag-phase time and fluorescence last value, stratified by clinical phenotype and genotype, are shown. *Computed over the TDP-43-positive cases only. A sample was considered positive if at least two of the three replicates reached the fluorescence threshold (50,000 AU) within 36 h. Abbreviations: MND = motor neuron disease; sALS = spinal-onset amyotrophic lateral sclerosis; bALS = bulbar-onset amyotrophic lateral sclerosis; SD = standard deviation; AU = arbitrary unit; PLS = primary lateral sclerosis; FOSMN = facial onset sensory and motor neuronopathy; C9orf72exp = 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; NA = not applicable; MSA = multiple system atrophy; AD = Alzheimer's disease; DLB = dementia with Lewy body; CTRLs = controls