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Table 1 Patient characteristics

From: HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Patient

Clinical diagnosis

Family history

Genetic diagnosis

Age of onset

Disease duration

Male/ Female

Brain weight

1

bvFTD

FTD

C9ORF72

51,8

8,7

Male

960 g

2

bvFTD

FTD

C9ORF72

55,8

9,1

Male

1184 g

3

bvFTD

FTD and ALS

C9ORF72

66,4

8,1

Female

1060 g

4

bvFTD

ALS and dementia

C9ORF72

63,2

6,8

Female

958 g

5

bvFTD

FTD and ALS

C9ORF72

55,2

9,5

Male

1075 g

6

FTD

N/A

Progranulin (Gln200X)

60,6

5,5

Female

894 g

7

FTD

FTD

Progranulin (Ser82ValfsX174)

47,4

4,3

Female

unknown

8

FTD

FTD

MAPT (G272 V)

42,6

8,4

Male

962 g

9

FTD

FTD

MAPT (P301L)

51,1

9,7

Male

887 g

10

ALS

N/A

unknown

70

1

Male

1428 g

11

ALS

N/A

unknown

65

2,2

Female

1125 g

12

ALS

N/A

unknown

75

1,1

Male

1255 g

13

ALS

N/A

C9ORF72

60

4,4

Female

1390 g

14

ALS

N/A

C9ORF72

66

3,5

Male

1275 g

15

ALS

N/A

C9ORF72

71

2,4

Female

1080 g

16

Non-demented

N/A

unknown

N/A

N/A

Female

1080 g

17

Non-demented

N/A

unknown

N/A

N/A

Male

1215 g

18

Non-demented

N/A

unknown

N/A

N/A

Female

1139 g