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Table 1 Location and number of cerebral malformations. MRIs were obtained with echo-gradient sequences except the T2-weighted images of patient I-1. Individual II-5 is the proband's uncle, not shown in figure 1, who harbours the 1902insA mutation. MRIs of sibling III-2 were repeatedly negative and therefore he was excluded from the table.

From: Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

 

I-1

II-1

II-5

III-3

III-4

III-5

%

Age

82

46

52

15

11

4

 

Onset age

67

---

39

---

9

4

 

Symptoms

Headache

None

Hemorrhage

none

Headache

Hemorrhage

 

Total

34

51

37

5

9

8

100

Frontal

8

21

14

1

1

1

32

Parietal

10

12

10

1

1

2

25

Temporal

4

8

6

2

2

4

18

Occipital

5

5

3

0

4

0

12

Diencephalon

0

1

1

1

0

0

2

Midbrain

1

0

0

0

0

0

0.7

Pons

0

1

1

0

1

0

2

Medulla

0

1

0

0

0

0

0.7

Cervical

6

2

2

0

0

1

7.6