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Table 1 Clinical, brain imaging and genetic features of the Belgian cohort of LOPD patients

From: Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

ID

Gender

Current age (y)

Current disease stage

Age at symptom onset (y)

Symptoms at onset

Duration of ERT (y)

Ventilation (age at startup in y)

Brain imaging

Year of genetic diagnosis (age in years)

GAA mutation 1

GAA mutation 2

1

F

D

D (68y)

42

LW

2

NIV (54y); invasive (68y)

ND

2013 (65y)

c.-32-13 T > G

c.2219_2220del

2

F

66

A

58

R

4

NIV (58y)

Normal (CT)

2014 (60y)

c.-32-13 T > G

c.2331 + 2 T > A

3

F

23

A

14

LW

8

ND

2010 (14y)

c.-32-13 T > G

c.1564C > G

4

M

56

A

15

LW, F

13

NIV (39y)

ND

2007 (44y)

c.-32-13 T > G

c.258dupC

5

M

55

A

26

LW, F

2

NIV (53y)

ND

2016 (52y)

c.-32-13 T > G

c.2261dupC

6

F

65

A

13

LW

7

ND

2012 (58y)

c.-32-13 T > G

c.258dupC

7

M

44

A

14

LW, F

4

NIV (32y)

ND

2007 (32y)

c.-32-13 T > G

del exon 18

8

M

D

D (age?)

10

R

3

invasive (42y)

ND

2007 (41y)

c.-32-13 T > G

c.956del7

9

F

75

W

49

LW

13

Atrophy, mild microvascular white matter lesions (MRI)

2005 (61y)

c.-32-13 T > G

c.525delT

10

M

D

D (age?)

68

R

8

NIV (75y)

ND

NA

c.-32-13 T > G

11

M

45

A

11

LW

13

NIV (37y)

Normal (MRI)

2007 (33y)

c.-32-13 T > G

c.1548G > A

12

M

27

A

7

LW

14

ND

2002 (20y)

c.-32-13 T > G

c.2331 + 2 T > A

13a

F

45

A

36

LW

2

ND

NA

c.-32-13 T > G

c.1115A > T

14 a

M

D

D (62y)

NA

R

2

NIV (58y)

ND

2005 (60y)

c.-32-13 T > G

15a

M

55

A

30

R

13

NIV(36y)

ND

2004 (40y)

c.-32-13 T > G

del exon 18

16a

M

59

A

52

NA

11

Normal (MRI)

2004 (44y)

c.-32-13 T > G

del exon 18

17

F

64

A

51

R, LW

9

Normal (MRI)

2008 (53y)

c.-32-13 T > G

c.258dupC

18

F

27

A

11

NA

12

Normal (MRI)

2006 (14y)

c.-32-13 T > G

c.258dupC

19

F

48

A

35

R, LW, AW

10

Normal (MRI)

2008 (37y)

c.-32-13 T > G

del exon 18

20

F

50

A

31

R, LW, AW

9

Moderate ventriculomegaly (MRI)

2009 (40y)

c.-32-13 T > G

c.692 + 1G > T

21b

M

50

A

20

R, LW, AW

10

Normal (MRI)

2008 (39y)

c.-32-13 T > G

c.1610_1611delA

22b

M

47

A

37

R, LW, AW

9

Normal (MRI)

2008 (36y)

c.-32-13 T > G

c.1610_1611delA

23

M

34

A

15

NA

7

Normal (MRI)

2007 (22y)

c.-32-13 T > G

c.2608C > T

24

M

15

A

7 mo

NA

12

Aspecific T2 hyperintensity in right thalamus (MRI)

2007 (3y)

c.-32-13 T > G

del exon 18

25

F

41

A

17

LW, R

8

Normal (MRI)

2007 (29y)

c.-32-13 T > G

c.1655 T > C

26

M

10

A

2.5

R, LW

6

Normal (MRI)

2013 (4y)

C.2608C > T

c.1839G > C

27

F

59

A

43

R, LW, AW

5

Normal (MRI)

2013 (53y)

c.-32-13 T > G

c.2608C > T

28

F

35

A

28

R, LW, AW

3

Normal (MRI)

2015 (31y)

c.-32-13 T > G

c.1121G > A

29

F

23

A

9 mo

LW

14

Normal (MRI)

2000 (4y)

c.-32-13 T > G

c.923A > C

30

M

63

A

39

R

13

NIV (40 y)

Vertebrobasilar dolichoextasia, hypointensities in basal ganglia (SWI) (MRI)

2007 (51y)

c.-32-13 T > G

c.258dupC

31

F

50

A

35

LW

13

Normal (MRI)

2007 (38y)

c.-32-13 T > G

c.1548G > A

32

F

73

A

28

LW

13

ND

2007 (61y)

c.-32-13 T > G

c.1710C > G and c.1923G > A

33

F

63

A

44

LW

11

Normal (CT)

2008 (52y)

c.-32-13 T > G

del exon 18

34c

M

68

A

45

LW, ptosis left side

12

NIV (60 y)

Aneurysm right vertebral artery (MRI)

2007 (66y)

c.-32-13 T > G

c.1681_1699dup19

35c a

F

D

D (78y)

44

LW, AW

NIV (72 y)

Vascular leukoencephalopathy (CT)

2007 (72y)

c.-32-13 T > G

c.1681_1699dup19

36

M

47

A

25

LW

11

Multiple small aneurysms (right ACI and left ACA) (MRI)

2008 (36y)

c.-32-13 T > G

c.1075G > A

37d

M

45

A

17

LW

10

Normal (MRI)

2009 (35y)

c.-32-13 T > G

c.482_483del

38

F

41

A

27

HyperCK, F

9

Normal (MRI)

2009 (31y)

c.-32-13 T > G

c.525delT

39d

F

49

A

42

LW

7

Normal (MRI)

2011 (41y)

c.-32-13 T > G

c.482_483delCC

40

F

35

A

18

LW

3

Normal (MRI)

2016 (32y)

c.-32-13 T > G

c.2261dupC

41

M

55

A

42

LW

2

NIV (53 y)

Normal (MRI)

2017 (53y)

c.-32-13 T > G

c.2608C > T

42

M

59

A

51

LW

5

ND

2014 (53y)

c.-32-13 T > G

c.258dup

43

F

63

A

25

LW

11

ND

2011 (54y)

c.-32-13 T > G

c.186dup11

44

F

62

A

44

LW

7

ND

2007 (51y)

c.-32-13 T > G

c.1115A > T

45

F

D

D (65y)

44

LW, R

7

NIV (55y)

Normal (CT)

2008 (57y)

c.-32-13 T > G

c.701C > G

46

M

58

A

27

LW

8

NIV (54y)

ND

2012 (51y)

c.-32-13 T > G

c.258dup

47

M

53

A

29

LW

11

NIV (41y)

Normal (CT)

2008 (42y)

c.-32-13 T > G

c.525delT

48

M

46

A

9

LW

14

NIV (38y)

Normal (MRI)

2007 (34y)

c.1-45 T > G

c.2608C > T

49

F

45

A

20

R

2

Vertebrobasilar dolichoextasia (MRI)

2017 (43y)

c.-32-13 T > G

c.525delT

50

M

40

A

36

LW

3

NIV (37y)

ND

2017 (38y)

c.-32-13 T > G

c.1115A > T

51 a

F

21

A

18

LW, F

4 mo

ND

2019 (21y)

c.-32-13 T > G

c.1548G > A

52

F

D

D (age?)

NA

NA

NA (until D)

NIV (49y)

ND

NA

NA

NA

  1. A ambulatory; ACA anterior cerebral artery, ACI internal carotid artery, AW axial weakness, CT computed tomography, D deceased, ERT enzyme replacement therapy, F female, F fatigue, GAA alpha-glucosidase gene, HyperCK increased creatine kinase in blood, LW limb-girdle weakness, M male, mo months, MRI magnetic resonance imaging, NA not available, ND not done, NIV non-invasive ventilation, R respiratory weakness, SWI susceptibility weighted imaging, W wheelchair-bound, y years. a, patients not included in statistical analysis of functional tests (ActivLim data lacking). Letters in superscript indicate corresponding family members. New mutations are indicated in bold