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Table 1 Demographics of the study cohort with serum TDP-43 levels in each group

From: Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype

Clinical phenotype/genetic background

FTD total, N = 254

FTD-TDP, N = 64

FTD-tau, N = 27

HC, N = 105

bvFTD (N)

125

37

3

C9-HRE (N)

18

18

0

GRN (N)

18

18

0

MAPT (N)

2

0

2

nfvPPA (N)

63

18

0

C9-HRE (N)

5

5

0

GRN (N)

13

13

0

MAPT (N)

0

0

0

svPPA (N)

33

0

0

C9-HRE (N)

0

0

0

GRN (N)

0

0

0

MAPT (N)

0

0

0

PSP (N)

24

0

24

C9-HRE (N)

0

0

0

GRN (N)

0

0

0

MAPT (N)

1

0

1

FTD-MND (N)

9

9

0

C9-HRE (N)

3

3

0

GRN (N)

0

0

0

MAPT (N)

0

0

0

Gender, female %

52%

52%

44%

56%

Age, years, mean (SD)

66.1 (9.0)

62.2 (9.2)

69.0 (10.5)

67.2 (9.8)

FTD-CDR Sum of Boxes, mean (SD)

6.2 (4.4)

7.5 (4.7)

4.2 (3.0)

Serum TDP-43, pg/mL, median (interquartile range, IQR)

204.8* (247.8)

190.3#,^ (222.6)

305.8^ (290.3)

253.1*,# (258.8)

  1. Abbreviations: bvFTD behavioral variant frontotemporal dementia, C9-HRE C9orf72 hexanucleotide repeat expansion, FTD frontotemporal dementia, FTD-CDR Frontotemporal dementia Clinical Dementia Rating score, FTD-MND frontotemporal lobar degeneration with motoneuron disease, FTD-tau frontotemporal dementia with tau pathology, FTD-TDP frontotemporal dementia with TAR DNA-binding protein pathology, HC healthy controls, nfvPPA non-fluent variant of primary progressive aphasia, PSP progressive supranuclear palsy, SD standard deviation, svPPA semantic variant of primary progressive aphasia, TDP-43 TAR DNA-binding protein 43
  2. Significant p-values in TDP-43 level comparisons adjusted for age and sex: *p = 0.034, FTD total vs. HC; #p = 0.036, FTD-TDP vs. HC; ^p = 0.022, FTD-TDP vs. FTD-tau