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Table 1 Selected clinical, neuropathological and genetic details on patients studied

From: Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy

Case ID#

MRC#

Clinical diagnosis

Cognitive status

Pathological diagnosis

Gender

Onset age

Age at death

Duration

APOE genotype

Family history

Mutation

Thal stage

Braak stage

1

na

MND

unknown

MND

F

56

57

1

na

N

na

0

0

2

na

MND

unknown

MND

F

50

52

2

na

N

na

0

0

3

na

MND

unknown

MND

M

77

77

0.5

na

N

na

0

0

4

na

MND

unknown

MND

M

na

na

na

na

na

na

0

0

5

na

MND

unknown

MND

M

na

na

na

na

na

na

0

0

6

na

MND

unknown

MND

M

na

na

na

na

na

na

0

0

7

BBN_3043

MND

unknown

MND

M

42

45

2

33

N

none

0

0

8

BBN_3068

MND

normal

MND

M

60

63

3

na

N

na

0

0

9

BBN_3158

MND

unknown

MND

M

na

na

na

33

N

none

0

0

10

BBN_3340

MND

normal

MND

M

43

45

2

33

Y

C9orf72

0

0

11

BBN_3436

MND

normal

MND

M

49

51

2

33

N

none

0

0

12

BBN_6065

MND

normal

MND

M

53

55

2

33

N

none

0

0

13

BBN_18408

MND

normal

MND

M

40

46

6

34

N

none

0

0

14

BBN_24300

MND

normal

MND

M

55

58

3

33

N

C9orf72

0

0

15

na

MND

unknown

MND

F

69

71

2

na

N

na

3

0

16

na

MND

unknown

MND

F

na

na

na

na

na

na

1

0

17

BBN_3307

MND

normal

MND

M

66

72

6

33

N

none

1

0

18

na

MND

unknown

MND

M

42

44

?

na

N

na

0

0-I

19

BBN_3106

MND

unknown

MND

F

72

76

4

33

N

none

0

0-I

20

BBN_3268

MND

normal

MND

M

na

na

na

33

N

none

0

0-I

21

BBN_3317

MND

normal

MND

M

na

na

na

33

N

none

0

0-I

22

BBN_3429

MND

normal

MND

M

50

52

2

34

N

none

0

0-I

23

BBN_3456

MND

normal

MND

F

55

57

2

23

N

none

0

I

24

BBN_10257

MND

unknown

MND

M

74

77

3

33

N

none

0

I

25

BBN_3315

MND

normal

MND

M

65

67

2

33

N

none

0

I

26

BBN_24685

MND

normal

MND

F

53

58

5

34

N

none

0

I

27

BBN_3319

MND

normal

MND

F

na

na

na

33

N

none

3

0-I

28

BBN_3330

MND

normal

MND

F

na

na

na

33

N

none

2

0-I

29

na

MND

unknown

MND

M

na

na

na

na

na

na

3

I

30

BBN_3212

MND

normal

MND

M

60

65

5

34

Y

C9orf72

3

I-II

31

BBN_3341

MND

normal

MND

F

83

85

1.5

34

N

none

5

I-II

32

BBN_3342

MND

normal

MND

F

65

67

2

33

N

none

3

I-II

33

na

MND

unknown

MND

M

na

na

na

na

na

na

3

II

34

BBN_25502

MND

normal

MND

F

73

76

3

33

N

none

3

II

35

BBN_13803

MND

dementia

MND

F

65

69

4

23

N

none

3

IV

36

BBN_3297

MND

cognitive impaired

MND

F

na

na

na

33

N

none

3

IV-V

37

BBN_3004

MND

normal

MND

M

43

47

4

na

N

na

0

na

38

BBN_3344

MND

normal

MND

M

55

57

2

33

Y

C9orf72

0

na

39

BBN_3418

MND

normal

MND

F

37

39

2

33

N

none

0

na

40

BBN_6078

MND

normal

MND

M

46

52

4

34

N

none

2

na

41

BBN_3457

MND

normal

MND

M

60

63

3

33

N

none

0

na

42

BBN_5658

FTD+MND

dementia

FTLD-TDP B

M

45

47

2

na

N

na

0

0

43

BBN_5661

FTD+MND

dementia

FTLD-TDP B

M

43

45

2

34

N

none

0

0

44

BBN_5663

FTD+MND

dementia

FTLD-TDP B

M

57

59

2

33

Y

C9orf72

0

0

45

BBN_5669

FTD+MND

dementia

FTLD-TDP B

M

65

67

2

33

N

none

0

0

46

BBN_5732

FTD+MND

dementia

FTLD-TDP B

F

50

52

3

34

Y

none

0

0

47

BBN_3334

FTD+MND

dementia

FTLD-TDP B

M

na

na

na

33

N

none

0

0

48

BBN_3459

FTD+MND

dementia

FTLD-TDP B

F

61

63

2

33

N

none

0

0

49

BBN_10258

FTD+MND

dementia

FTLD-TDP B

M

61

64

3

33

N

none

0

0

50

BBN_14791

FTD+MND

dementia

FTLD-TDP B

M

72

75

3

34

N

none

0

0

51

BBN_24314

FTD+MND

dementia

FTLD-TDP B

F

59

63

4

33

N

none

0

0-I

52

BBN_5764

FTD+MND

dementia

FTLD-TDP B

M

61

65

4

33

N

none

0

0-I

53

BBN_5772

FTD+MND

dementia

FTLD-TDP B

F

70

73

3

33

Y

C9orf72

0

0-I

54

BBN_24359

FTD+MND

dementia

FTLD-TDP B

M

51

58

7

33

Y

C9orf72

0

0-I

55

BBN_24376

FTD+MND

cognitive impaired

FTLD-TDP B

F

78

79

1

34

N

none

0

0-I

56

BBN_5771

FTD+MND

dementia

FTLD-TDP B

F

63

65

2

33

Y

C9orf72

0

I

57

BBN_5721

FTD+MND

dementia

FTLD-TDP B

M

58

69

11

33

N

none

1

I

58

BBN_5681

FTD

dementia

FTLD-TDP A

M

49

58

9

33

Y

C9orf72

0

0

59

BBN_5705

FTD

dementia

FTLD-TDP A

F

53

67

14

33

Y

V452WfsX38

0

0

60

BBN_10260

PNFA

dementia

FTLD-TDP A

M

62

72

10

33

Y

V452WfsX38

0

0

61

BBN_5660

FTD

dementia

FTLD-TDP A

F

53

71

18

33

Y

V452WfsX38

0

0

62

BBN_5773

FTD

dementia

FTLD-TDP A

M

66

73

7

33

Y

Q130SfsX124

0

0

63

BBN_5715

PNFA

dementia

FTLD-TDP A

F

63

71

8

33

Y

Q130SfsX124

0

0

64

BBN_5718

FTD

dementia

FTLD-TDP A

M

59

66

7

33

Y

R493X

0

0

65

BBN_5675

FTD

dementia

FTLD-TDP A

F

51

61

10

na

Y

R493X

0

0

66

BBN_5686

FTD

dementia

FTLD-TDP A

F

60

66

6

33

N

Q468X

0

0

67

BBN_5734

FTD

dementia

FTLD-TDP A

M

69

75

6

33

N

none

0

0

68

BBN_5757

PNFA

dementia

FTLD-TDP A

F

66

77

11

33

N

none

0

0

69

BBN_5666

PNFA

dementia

FTLD-TDP A

M

55

71

16

34

Y

V452WfsX38

2

0

70

BBN_5677

PNFA

dementia

FTLD-TDP A

M

62

70

8

34

Y

V452WfsX38

2

0

71

BBN_5719

FTD

dementia

FTLD-TDP A

F

59

64

5

33

Y

C9orf72

0

0-I

72

BBN_5752

FTD

dementia

FTLD-TDP A

M

64

72

8

33

Y

C9orf72

0

0-I

73

BBN_5739

FTD

dementia

FTLD-TDP A

M

62

67

5

33

Y

C9orf72

0

0-I

74

BBN_14793

FTD

dementia

FTLD-TDP A

M

54

65

11

33

Y

C9orf72

0

0-I

75

BBN_5727

PNFA

dementia

FTLD-TDP A

M

66

73

7

33

Y

C31LfsX34

0

0-I

76

BBN_5742

PNFA

dementia

FTLD-TDP A

M

66

71

5

34

Y

V452WfsX38

0

I

77

BBN_5774

FTD

dementia

FTLD-TDP A

M

63

65

2

34

Y

C9orf72

2

0-I

78

BBN_5706

FTD

dementia

FTLD-TDP A

M

60

68

8

34

Y

C9orf72

2

0-I

79

BBN_5685

PNFA

dementia

FTLD-TDP A

M

68

78

10

34

N

none

3

IV-V

80

BBN_5753

FTD

dementia

FTLD-TDP A

F

66

72

6

33

N

none

3

I-II