Table 2.
Patients’ molecular data and pain history
| 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 |
* Patient receiving SRT and ERT
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
Pain findings: B: back; BC: bone crisis; H: hands; J: joints; LL: lower limbs; N: no; PF: pathological fractures; UL: upper limbs