Table 3 The clinical characteristics of 26 mutation carriers

Patient 1

PSEN1

p.Q56R

No

Female

37

36

1

20

14

1

Memory decline

Bilateral hippocampus atrophy

NA

ε3/ε4

Patient 2

PSEN1

p.A136V

Yes

Male

56

50

6

6

4

3

Progressive memory decline, disorientation, executive dysfunction

Global brain atrophy, particularly pronounced in the bilateral hippocampi

Hypo-metabolism in the bilateral parietal, temporal, and occipital lobes

ε2/ε4

Patient 3

PSEN1

p.M146V

Yes

Female

42

40

2

18

12

2

Progressive memory decline, disorientation, executive dysfunction

Atrophy in the bilateral temporal and parietal lobes

NA

ε3/ε3

Patient 4

PSEN1

p.L174P

No

Female

30

28

2

3

3

3

Memory loss, slow reactions and difficulty in communication

Bilateral hippocampus atrophy

Hypo-metabolism in the bilateral hippocampal, temporal, and frontal lobes

ε3/ε3

Patient 5

PSEN1

p.L226R

Yes

Male

50

46

4

19

14

2

Progressive memory decline, language disability

Atrophy in the bilateral temporal and parietal lobes

NA

ε3/ε4

Patient 6

PSEN1

p.I249L

No

Female

64

60

4

19

14

2

Memory disturbance

Atrophy in the bilateral temporal, parietal, and occipital lobes

Hypo-metabolism in bilateral parietal lobes, right temporal lobe, middle left temporal lobe, and right posterior frontal lobe

ε3/ε3

Patient 7

PSEN1

p.I249L

Yes

Female

62

54

8

12

7

2

Memory loss

Atrophy in hippocampal and cortex

Hypo-metabolism in the bilateral hippocampal and temporal lobes

ε3/ε3

Patient 8

PSEN1

p.L262S

Yes

Male

59

57

2

5

2

3

Language impairment, memory loss

Atrophy in the bilateral parietal, temporal lobes, and hippocampal

NA

ε3/ε3

Patient 9

PSEN1

p.E273G

Yes

Female

47

44

3

20

15

1

Memory loss

Atrophy in the bilateral temporal and parietal lobes

Hypo-metabolism in the bilateral hippocampal, temporal, and frontal lobes

ε3/ε4

Patient 10

PSEN1

p.R278G

No

Female

34

33

1

23

17

1

Memory loss, get lost in familiar places

Bilateral hippocampus atrophy

NA

ε3/ε3

Patient 11

PSEN1

p.S289P

No

Female

55

53

2

11

5

2

Memory loss, unable to calculate numbers, apathy, diminished verbal expression and comprehension

Atrophy in the bilateral hippocampal, parietal, and temporal lobes

Hypo-metabolism in the bilateral hippocampal, parietal, and temporal lobes

ε3/ε3

Patient 12

PSEN1

p.K311R

No

Female

67

63

4

21

15

1

Atrophy in the bilateral parietal, temporal lobes, and hippocampal

NA

ε2/ε3

Patient 13

PSEN1

p.R377M

Yes

Female

64

61

3

4

0

3

Memory decline, depression, apathy, and disorientation

Atrophy in the bilateral hippocampus

Hypo-metabolism in the bilateral temporal, parietal lobes, and hippocampus

ε3/ε3

Patient 14

PSEN1

p.P433S

Yes

Male

44

34

10

23

18

1

Memory decline, apathetic, social disinhibition

Atrophy in the bilateral parietal, temporal lobes, and hippocampal

Hypo-metabolism in bilateral parietal and temporal lobes

ε3/ε3

Patient 15

PSEN1

p.I437V

No

Male

74

69

5

7

4

3

Memory loss, delusions

Atrophy in the bilateral temporal lobes and hippocampus

NA

ε3/ε4

Patient 16

PSEN1

p.Y466C

No

Male

63

57

6

16

12

1

Memory loss

Atrophy in bilateral temporal, parietal, and occipital lobes

Hypo-metabolism in bilateral temporal, parietal, and occipital lobes

ε3/ε3

Patient 17

PSEN2

p.R17W

No

Female

67

61

6

12

6

2

Memory decline, disorientation, executive dysfunction

Atrophy in the bilateral parietal, temporal lobes, and hippocampus

NA

ε3/ε3

Patient 18

PSEN2

p.V214L

No

Female

59

57

2

15

12

1

Memory loss

Atrophy in bilateral temporal lobes and hippocampus

Hypo-metabolism in bilateral temporal lobes and hippocampus

ε2/ε3

Patient 19

PSEN2

p.V214L

No

Female

59

57

2

8

4

3

Memory loss, confusion and disorientation

Atrophy in the bilateral parietal, temporal lobes, and hippocampal

Hypo-metabolism in the bilateral temporal, parietal, and frontal lobes

ε3/ε3

Patient 20

PSEN2

p.M239T

No

Male

62

58

4

14

7

2

Memory loss, repetitive and impulsive behavior

Atrophy in bilateral parietal and occipital lobes

Hypo-metabolism in bilateral parietal and occipital lobes

ε3/ε4

Patient 21

PSEN2

p.M298T

Yes

Male

65

60

5

9

5

3

Memory loss, paranoid, apathetic

Atrophy in the bilateral parietal, temporal lobes, and hippocampus

Hypo-metabolism in the bilateral hippocampal, parietal, and temporal lobes

ε3/ε3

Patient 22

PSEN2

p.F331Y

Yes

Male

50

47

3

17

14

1

Memory loss

Atrophy in the bilateral temporal and parietal lobes

NA

ε3/ε4

Patient 23

APP

p.D197N

No

Male

66

64

2

18

15

1

Memory loss, loss of inhibitions

Atrophy in the bilateral parietal, temporal lobes, and hippocampus

Hypo-metabolism in the bilateral parietal, temporal lobes, and hippocampus

ε3/ε4

Patient 24

APP

p.A235V

No

Male

59

54

5

21

15

1

Memory loss, social withdrawal

Bilateral hippocampus atrophy

NA

ε3/ε3

Patient 25

APP

p.D252V

No

Male

68

64

4

22

16

1

Memory loss, changes in sleeping habits

Atrophy in the bilateral temporal, parietal, and frontal lobes

Hypo-metabolism in the bilateral temporal, parietal, and frontal lobes

ε3/ε3

Patient 26

APP

p.T297M

No

Female

59

53

6

17

13

2

Memory loss, apathetic and irritable

Atrophy in the bilateral temporal and parietal lobes

Hypo-metabolism in the bilateral parietal, temporal lobes, and hippocampus

ε3/ε4