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Table 2 Evolution of the scores of the scales used to evaluate non-motor symptoms of Parkinson’s disease in patients with Gaucher disease type 1 at baseline (pre) and after a 3 year follow-up (post) (n = 19)

From: Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF

Patient

L444P + 

MoCa pre

MoCa post

BDI pre

BDI post

ESS pre

ESS post

UMSARTS pre

UMSARTS post

RBD-1Q pre

RBD-1Q post

SST pre

SST post

Total NMS pre

Total NMS post

1*

N

30

30

4

7

6

0

0

0

N

N

10

12

0

0

2

Y

26

25

16

0

11

6

1

1

N

N

10

11

2

1

3

Y

29

28

5

0

8

4

1

1

N

N

12

11

0

0

4*

N

23

26

3

8

17

15

0

0

Y

Y

11

9

3

2

5

N

26

27

4

5

9

4

1

0

N

N

11

10

0

0

6

N

26

28

3

9

11

7

1

1

N

N

10

10

1

0

7

N

26

28

2

NP

8

9

1

0

Y

Y

9

11

1

1

8*

Y

27

27

12

4

11

11

1

1

N

N

11

10

1

1

9*

N

26

29

6

9

13

11

1

0

N

Y

12

12

1

2

10

N

26

26

0

0

18

18

0

0

Y

Y

12

9

2

2

11

N

30

29

7

2

3

4

1

1

N

N

12

11

0

0

12

Y

29

28

2

7

10

13

0

0

N

N

10

10

0

1

13

Y

29

NP

4

7

15

9

0

0

N

N

12

12

0

0

14*

N

22

25

25

29

1

3

2

2

N

N

10

10

3

3

15*

N

22

22

33

6

7

11

0

0

N

N

11

11

2

2

16

N

26

26

14

10

12

8

0

1

N

N

6

9

2

1

17*

N

22

NP

17

18

4

0

2

2

N

N

4

5

4

3

18*

N

26

24

3

0

7

0

0

0

N

Y

11

9

0

2

19*

N

19

17

4

6

13

7

2

0

Y

N

9

9

4

3

Mean

 

25.8

26.2

8.6

7.0

9.7

7.3

0.7

0.5

  

10.1

10

1.4

1.1

SD

 

3.0

3.1

8.8

7.1

4.5

5.1

0.7

0.7

  

2.1

1.6

1.3

1.0

  1. Altered results are presented in bold. Asterisk denotes patients who screened positive for more than one non-motor symptom of Parkinson’s disease. BDI Beck Depression Inventory (cutoff for depression > 14), ESS Epworth Sleepiness Scale (cutoff for increased daytime sleepiness > 10), UMSARS Unified Multiple System Atrophy Rating Scale (cutoff for constipation ≥ 2), SST Sniffin’ Sticks Test (cutoff for hyposmia < 9/12), MoCa Montreal Cognitive assessment (cutoff for cognitive impairment < 26), RBD-1Q Single-Question Screen for REM Sleep Behavior Disorder (cutoff being a positive answer to the single question), NP not performed. L444P + Presence of the L444P in one of GBA alleles
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172