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Table 2 Patient Information and Neuropathology Data

From: Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations

Case

Gender

Age at onset (yrs)

Age at death (yrs)

APOEGenotype

Brain Weight (g)

Frontal Atrophy

Neuronal Loss

Gliosis

CAA

*Avg CWP

*Avg Mature Plaques

*Avg Primitive Plaques

*Avg Diffuse Plaques

*Avg NFT

A79V-PSEN1

F

50

61

3/4

1060

2

2

2

0

0.00

8.67

43.67

65.33

9.00

A260V-PSEN1

M

40

46

2/3

1140

3

1/2

1/2

1

0.00

2.33

0.67

109.00

31.00

F105L-PSEN1

F

60

68

2/3

1070

2

2

2

1

0.00

1.00

0.00

78.67

17.00

Y115C-PSEN1

M

41

51

3/3

1026

2/3

2/3

2/3

1

0.00

0.67

8.67

70.67

31.33

A431E-PSEN1

F

35

43

3/3

764 PF

3

2/3

2/3

2

46.33

11.67

5.00

42.00

55.33

V261F-PSEN1

M

36

47

3/3

950

2

2

1

3

36.33

0.67

0.00

2.00

49.00

N141I-PSEN2

M

42

57

3/4

1136

2

1/2

1/2

2

0.00

2.00

1.33

67.67

65.00

V261I-PSEN1

F

48

55

3/3

1185

1

2

2

2

49.00

1.00

0.00

1.67

0.00

M146L-PSEN1

M

47

52

3/3

1150

1

2

2

1

0.00

14.00

0.00

102.00

14.33

P264L-PSEN1

F

48

53

3/3

940

2

2

2

0

13.67

8.00

0.00

12.67

14.67

sporadic AD

M

47

62

3/3

910

2

2/3

2/3

1

0.00

23.33

0.00

12.00

42.33

sporadic AD

M

55

66

3/4

1325

1

2/3

2/3

1

0.00

11.67

0.00

30.67

6.33

sporadic AD

M

58

73

3/4

1236 PF

2

2

2

2

0.00

5.67

0.00

15.33

12.00

sporadic AD

F

48

55

3/4

1100

3

2/3

2/3

0

0.00

36.67

0.00

21.33

55.33

  1. *all counts are measured in mm2; yrs = years; APOE = apolipoprotein E; g = grams; CAA = cerebral amyloid angiopathy; avg = average; CWP = cotton wool plaques; NFT = neurofibrillary tangles; F = female; M = males; yrs = years; AD = Alzheimer's disease; PSEN = presenilin; PF = post-fixed; 0 = none; 1 = mild; 2 = moderate; 3 = severe;