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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
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