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Table 2 Patients’ molecular data and pain history

From: Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Patient

No.

Sex

M/F

Age Tx

(yrs)

ERT duration (yrs)

Genotype

Bone Pain

Neuropathy pain localisation

NRS

0–10

Pain quality

DN4 score

(0–10)

Allele 1

Allele 2

T0

Tx

Tx

Tx

Tx

Tx

1

F

35

20

N370S

L444P

N

N

Lower limb

5

Cold

4

2

M

18

0

N370S

Rec NciI

N

---

-

0

-

0

3

F

40

17

N370S

D399N

N

N

-

0

-

0

4

M

18

15

N370S

D409H

N

N

-

0

-

0

5

M

54

19

R48W

L444P

J, BC

N

Feet

5

Cooling

4

6

F

53

19

R48W

L444P

J

N

-

0

-

0

7

F

35

21

R170P

c.1225-10delC;

c.1225-14 T > A

J, BC, PF

H, UL

Toes, feet

3.5

Pinprick

4

8

M

37

21

R170P

c.1225-10delC;

c.1225-14 T > A

J, BC, PF

J

Lower limbs

3.5

Tingling

4

9

F

32

22

N370S

L444P

J

N

-

0

-

0

10

M

51

17

N370S

Rec NciI

J, B, BC

N

-

0

-

0

11

F

42

17

N370S

g.4179_5042conJ03060.1: g.2367_2911

J, B, UL

N

-

0

-

0

12

M

42

17

N370S

g.4179_5042conJ03060.1: g.2367_2911

N

N

Lower limbs

6

Tingling

4

13

M

63

11

N370S

G202R

B, UL, LL

B

Lower limbs and back

6

Cooling

4

14

M

27

14

N370S

H255Q + D409H

N

N

-

0

-

 

15

F

50

14

N370S

V214X

J, BC

N

Distal leg

7

Cooling

4

16

F

38

0

N370S

H255Q + D409H

N

---

Distal leg

5

Cooling

5

17

F

53

17

N370S

N370S

J, UL, LL

N

Lower limbs and back

8

Burning

5

18

F

44

13

N370S

V214X

N

N

Distal leg

8

Burning

6

19

M

20

13

N370S

N370S

N

N

-

0

-

2

20*

M

51

11

N370S

W381C

J

N

Distal leg

5

Cold pain

4

21

F

48

18

N370S

Rec NciI

N

N

Distal leg

5

Cold/Burning

5

22

M

46

19

N370S

g. − 3091 + 834del3925

J, BC

J, B

-

0

-

0

23

F

48

20

N370S

L444P

J, B, BC

N

-

0

-

0

24

F

54

0

N370S

L444P

N

---

Lower limbs

5

Tingling/Burning

4

25

M

35

20

N370S

N370S

N

N

-

0

-

0

  1. * Patient receiving SRT and ERT
  2. Genotype: Missense and nonsense mutations are reported using the traditional protein mutation nomenclature for GBA which considers position 1 the first aminoacid of the processed protein which lacks 39 aminoacids of the leader sequence (reference sequence AAC63056.1). These mutations are presented without “p.” in the mutation name. Intronic mutations are described as recommended, considering nucleotide +1 the A of the first ATG translation initiation codon. Nucleotide numbers are derived from the GBA1 cDNA (GenBank reference sequence NM_000157.1). In the case of the deleted allele, the genomic nucleotide position is used, according to the GBA (GenBank accession no. J03059.1) and pseudo-GBA (GenBank accesion no. J03060.1) sequences
  3. Pain findings: B: back; BC: bone crisis; H: hands; J: joints; LL: lower limbs; N: no; PF: pathological fractures; UL: upper limbs