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Table 1 Demographic and genetic features of HDLS and control case cohorts. Inclusive of cases with fixed tissue available (+) for imaging studies as well as cases from enlarged HDLS cohort without fixed tissue available (−) with available pathology reports and demographic data sufficient for inclusion in gender and AD pathology analyses. NA = information not available or not applicable to that case. Student’s t-test was performed on age at death between male and female HDLS cohorts, female age at death was significantly younger than male (p = 0.032)

From: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

Group

Case #

Sex

Age

CSF1R Mutation

Histopathology

Expression

HDLS

1

F

46

c.1897G > A, p.Glu633Lys

+

+

HDLS

2

M

55

c.2320-2A > G, p.Cys774_Asn814del

+

+

HDLS

5

F

58

c.2633C > A p.Pro878His

+

+

HDLS

6

M

49

c.2297 T > C, p.Met766Thr

+

+

HDLS

9

F

52

c.2381 T > C, p.Ile794Thr

+

+

HDLS

11

M

51

c.2330G > A, p.Arg777Gln

+

+

HDLS

13

M

71

c.1897G > A, p.Glu633Lys

+

–

HDLS

14

F

49

c.2603 T > C, p.Lys868Pro

+

–

HDLS

15

F

55

c.2603 T > C, p.Lys868Pro

+

–

HDLS

16

M

62

c.2381 T > C, p.Ile794Thr

+

–

HDLS

17

F

NA

c.2297 T > C, p.Met766Thr

+

–

Normal

3

M

69

 

–

+

Normal

4

M

63

 

–

+

Normal

7

F

61

 

–

+

Normal

8

F

60

 

+

+

Normal

10

M

53

 

–

+

Normal

12

F

56

 

–

+

Normal

18

M

74

 

+

–

Normal

19

M

51

 

+

–

Normal

20

F

65

 

+

–

Normal

21

M

82

 

+

–

Normal

22

F

60

 

+

–

Normal

23

M

65

 

+

–

Normal

24

M

50

 

+

–

Normal

25

M

50

 

+

–

Normal

26

F

53

 

+

–

Normal

27

M

63

 

+

–