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Table 1 All 24 French families carrying an APP duplication

From: Phenotype and imaging features associated with APP duplications

ID fam

Duplication size (Mb) (Hg19)

AAO (years)

DD of sampled patients (years)

N patients sampled

N affected or highly suspected affected members

EXT_006

15.3

58

3

1

NA

EXT_019

3.6

42-59

12

2

5

ALZ_028

0.6

42-60

15-30

2

6

ROU_037

0.75

48-59

5-12

7

8

EXT_054

11

45-55

1-12

2

4

EXT_144

9.7

42-63

1-4

2

4

EXT_145

6.1

48-52

6

1

3

EXT_187

14.2

45-60

4

1

3

ALZ_229

6.1

52-69

1-18

2

4

ALZ_254

14.7

45-49

6

1

2

BES_262

0.55

44-58

5-32

5

8

EXT_279

1.08

50 -76

3

1

2

EXT_298

0.78

46-50

13

1

2

ALZ_478

1.9

46-57

3-9

4

8

EXT_773

6.3

44

12

1

1 (de novo)

EXT_814

5.7

50-54

8-10

1

6

EXT_857

1.5

50-62

1-2

2

3

EXT_1093

1.5

53-65

10

1

2

EXT_1230

9.3

54

7

1

2

EXT_1252

1.4

54-58

8

1

3

EXT_1516

0.95

39-48

4

1

2

EXT_1853

0.95

50

7

1

2

EXT_1864

3.4

50-55

6

1

2

EXT_2066

0.6

38-52

2

1

2

  1. ID Fam family identification number, AAO age at onset, DD disease duration, i.e., time from symptoms to death or last evaluation, N number