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Table 1 Selected clinical and pathological details of cases investigated by dipeptide immunostaining

From: Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

Case

M/F

Clinical diagnosis

Pathological diagnosis

Family history

Onset (y)

Duration (y)

Brain weight (g)

1

M

FTD

FTLD-TDP type A

2 brothers, 2 sisters FTD

49

9

1050

2

M

FTD

FTLD-TDP type A

brother MND**, mother and grandmother FTD

60

8

1210

3

F

FTD

FTLD-TDP type A

none available

59

5

1140

4

M

FTD

FTLD-TDP type A

father dementia

64

8

1100

5

M

FTD

FTLD-TDP type A

father similar presentation, paternal grandmother 'AD’

63

2

na 

6

M

FTD

FTLD-TDP type A

yes

78

4

1200

7

M

FTD + MND

FTLD-TDP type B

?paternal aunt said to be 'strange’

60

2

na

8

M

FTD + MND

FTLD-TDP type B

mother FTD

57

2

1210

9

M

FTD

FTLD-TDP type B

mother dementia

54

12

na

10

F

FTD

FTLD-TDP type B

mother and sister FTD

51

19

na

11

F

FTD + MND

FTLD-TDP type B

father 'AD’, sister MND, paternal nephew MND

63

2

na

12

F

FTD + MND

FTLD-TDP type B

sister MND, brother FTD, mother 'multiple sclerosis’

68

5

1363

13

M

FTD

Corticobasal degeneration

father and 5 sisters had Huntington’s disease

59

70

1271

14

M

MND

MND

brother FTD**, mother and grandmother FTD

60

5

1350

15

F

MND

MND

none available

40

5

1330

16

M

MND

MND

brother MND, sister FTD + MND

53

2

1250

17

M

FTD

FTLD-tau Pi

none

69

6

na

18

F

FTD

FTLD-tau MAPT +16

mother: early onset dementia; brother: MND

48

15

1100

19

M

Corticobasal Syndrome

FTLD-tau CBD

none

65

na

1020

20

M

FTD

FTLD-TDP A

mother AD, brother AD (but with behavioural problems)

66

7

980

21

F

FTD + MND

FTLD-TDP B

none available

50

2

1050

22

F

SD

FTLD-TDP C

none

70

2

1522

23

F

Alzheimer’s disease

Alzheimer’s disease

none

74

12

1220

24

M

Huntington’s disease

Huntington’s disease

none available

48

24

na

25

M

Huntington’s disease

Huntington’s disease

none available

56

19

1340

26

M

Normal

Normal control

none

54*

na

1720

27

F

Normal

Normal control

none

53*

na

1220

  1. FTD = Frontotemporal dementia; MND = Motor Neurone Disease; SD = semantic dementia; FTLD = Frontotemporal Lobar Degeneration; na = data not available/applicable; * = age at death; ** = cases #2 and 14 were brothers.