Table 1 Patients’ characteristics and ICARS evolution

1

F/ 5 yr. 6 mo

c.368G > A/ c.722G > C

20 mo

10

8

2/100

CA progression

2

M/ 10 yr. 9 mo

c.484C > T/ c.523 + 3A > G

20 mo

23

13

10/100

CA progression

3

F/ 8 yr. 9 mo

c.338C > T/ c.353C > G + c.550C > A

33 mo

61

57

4/100

CA progression

4

F/ 9 yr. 2 mo

c.470 T > C/ c.484C > T

30 mo

34

24

10/100

Only one MRI available. CA.

5

M/ 15 yr

c. 278A > C/ c.422G > A

31 mo

4

4

0/100

CA progression

6

F/ 5 yr. 6 mo

c.338C > T/ c.338C > T

32 mo

69

63

6/100

CA progression

7

F/ 7 yr. 2 mo

c.470 T > C/ c.722G > C

32 mo

16

13

3/100

Only one MRI available. CA

8

F/ 16 yr

c.367C > T/ c.458 T > C

24 mo

62

59

3/100

Only one MRI available. CA.

9

M/ 5 yr. 1 mo

c.415G > A/ c.722G > C

26 mo

44

36

8/100

CA progression

10

M/ 7 yr

c.95 T > G/ c.422G > A

26 mo

18

14

4/100

Only one MRI available. CA.

11

F/ 10 yr

c.710C > T/ c.640-9 T > G

26 mo

55

42

13/100

Only one MRI available. CA.

12

F/ 10 yr. 3 mo

c.338C > T/ c.626A > G

26 mo

43

32

11/100

CA progression

13

M/ 16 yr. 2 mo

c.710 C > G/ c.710 C > G

21 mo

11

7

4/100

CA progression

14

M/ 6 yr. 8 mo

c.422G > A/ c.710C > T

21 mo

50

49

1/100

CA progression

Mean / SD / Range

26.3 mo / 4.8 mo / 20–33 mo

35.71 / 21.98 / 4–69

30.07 / 21.06 / 4–63

5.64 / 4.10 / 0–13