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Table 1 Demographics and omics-based/clinical phenotypes for the samples assigned to each cluster for each dataset

From: Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data

 

KCL BrainBank (motor cortex)

TargetALS (motor cortex)

Zucca (blood)

van Rheenen (blood)

1

2

3

1

2

3

1

2

3

1

2

3

Number of Samples (%)

60 (53.57)

28 (25.00)

24 (21.43)

97 (57.7)

28 (16.6)

43 (25.6)

13 (86.70)

1 (6.65)

1 (6.65)

335 (84.4)

33 (8.31)

29 (7.31)

Number of Samples with a posterior probability ≥ 80% (%)

NA

NA

NA

88 (90.7)

22 (78.6)

31 (72.1)

9 (69.2)

1 (100)

0 (0)

275 (82.1)

31 (93.9)

11 (37.9)

N Males: N Females (Ratio)

35:25 (1.4)

15:13 (1.15)

15:9 (1.67)

60:37 (1.62)

18:10 (1.80)

21:22 (0.95)

6:7 (0.86)

0:1 (0)

1:0 (0)

205:130 (1.58)

18:15 (1.20)

16:13 (1.23)

C9 positive individuals (N)

7

1

0

11

0

4

NA

NA

NA

NA

NA

NA

Age at Symptom Onset in Years (mean ± SD)

58.8 ± 11.6

65.7 ± 12.3

61.7 ± 15.7

59.6 ± 11.1

64.9 ± 9.52

60.3 ± 11.5

63.6 ± 8.6

67.0 ± 0.0

65.0 ± 0.0

62.7 ± 11.9

57.9 ± 12.0

60.9 ± 12.3

Age at Blood Draw in Years (mean ± SD)

NA

NA

NA

NA

NA

NA

66.1 ± 9.8

69.0 ± 0.0

68.0 ± 0.0

NA

NA

NA

Age At Death in Years (mean ± SD)

62.5 ± 11.4

70.2 ± 11.4

64.2 ± 15.6

63.2 ± 10.2

69.5 ± 9.0

64.5 ± 8.9

NA

NA

NA

NA

NA

NA

Limb Onset (N)

36

10

17

65

22

17

NA

NA

NA

215

21

15

Bulbar Onset (N)

15

7

5

14

5

21

NA

NA

NA

120

12

14

Limb + Bulbar Onset (N)

1

1

0

7

0

1

NA

NA

NA

NA

NA

NA

Diagnostic Delay in Years (mean ± SD)

0.0015 ± 0.0013

0.00047 ± 0.00085

0.001 ± 0.0012

0.025 ± 0.32

0.073 ± 0.59

0.12 ± 0.35

NA

NA

NA

NA

NA

NA

Disease Duration in Years (median (IQR))

3.16 (1.96)

2.30 (1.81)

2.38 (1.75)

3.00 (2.13)

4.00 (3.48)

2.00 (2.00)

NA

NA

NA

2.41 (2.02)

2.47 (1.14)

2.37 (1.53)

Post-mortem Delay in Hours (mean ± SD)

26.1 ± 12.10

26.0 ± 10.70

25.9 ± 13.90

9.9 ± 6.10

10.0 ± 7.45

12.0 ± 8.26

NA

NA

NA

NA

NA

NA

Mitochondrial DNA Copy Number (mean ± SD)

465 ± 22.0

457 ± 22.4

459 ± 17.3

NA

NA

NA

NA

NA

NA

NA

NA

NA

Telomere Length in Kilobytes (mean ± SD)

4.04 ± 0.46

3.98 ± 0.56

3.77 ± 0.42

NA

NA

NA

NA

NA

NA

NA

NA

NA

Transcriptional Age Acceleration in Years (mean ± SD)

6.16 ± 9.24

0.45 ± 10.90

5.59 ± 10.80

10.50 ± 8.63

4.19 ± 8.08

8.54 ± 8.44

-23.50 ± 9.90

-28.60 ± 0.00

-26.93 ± 0.00

-41.21 ± 11.66

-36.68 ± 11.84

-38.62 ± 11.69

Biological Age Acceleration in Years (mean ± SD)

5.99 ± 2.92

4.06 ± 4.65

7.93 ± 4.67

NA

NA

NA

NA

NA

NA

NA

NA

NA

  1. NA represents values that could not be collected due to omics and clinical data availability, SD = standard deviation, N = number of samples or individuals, IQR = interquartile range