Table 3.
Neuroalgological, functional and hystopathological data at Tx
| Patient No. |
Sex M/F |
ERT duration (yrs) | NPSI* NRS (0–10) |
QST at dorsal foot Z score |
IENF/mm (lower limit of normality) |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q1 | Q10 | Q11 | Q12 | WDT | CDT | PHS | MDT | PPT | DL | Pth | |||
| 1 | F | 20 | 5 | 5 | 0 | 0 | +2.6 | −3.9 | +3.8 | −2.5 | −0.1 | 6.2 (7.1) | 3.2 (14.3) |
| 2* | M | 0 | − | − | − | − | +2.1 | −3.3 | +2.9 | −3.1 | −0.3 | − | − |
| 3 | F | 17 | − | − | − | − | +2.3 | −3.5 | +2.8 | −2.8 | −0.1 | 3.8 (5.7) | 6.6 (14.0) |
| 4 | M | 15 | − | − | − | − | +2.4 | −3.1 | +3.1 | −3.4 | −0.3 | 6.8 (10.9) | 3.1(16.4) |
| 5 | M | 19 | 7 | 6 | 0 | 5 | +1.9 | −3.3 | +3.3 | −2.5 | −0.2 | 0.8 (3.5) | 6.2 (13.5) |
| 6 | F | 19 | − | − | − | − | +1.6 | −3.3 | +2.9 | −2.6 | +2.8 | − | − |
| 7 | F | 21 | 0 | 7 | 6 | 0 | +2.1 | −2.8 | +2.8 | −2.9 | −0.2 | − | − |
| 8 | M | 21 | 0 | 2 | 0 | 7 | +2.3 | −2.6 | +2.8 | −3.1 | +3.1 | 8.5 (5.2) | 7.8 (14.1) |
| 9 | F | 22 | − | − | − | − | +2.4 | −3.0 | +2.2 | −2.8 | −0.4 | 0.6 (7.1) | 0.9 (14.3) |
| 10 | M | 17 | − | − | − | − | − | − | − | − | − | 4.4 (3.5) | 6.5 (13.5) |
| 11 | F | 17 | − | − | − | − | − | − | − | − | − | 4.4 (5.7) | 7.2 (14.0) |
| 12 | M | 17 | 5.5 | 5 | 0 | 0 | +2.6 | −2.7 | +2.4 | −2.5 | +3.1 | 5.2 (4.4) | 6.2 (13.8) |
| 13 | M | 11 | 6 | 5 | 3 | 6 | − | − | − | − | − | 8.2 (2.8) | 20.0 (11.2) |
| 14 | M | 14 | +2.7 | −3.3 | +2.7 | −2.4 | −0.3 | − | − | ||||
| 15 | F | 14 | 7 | 2 | 4 | 0 | − | − | − | − | − | 8.2 (4.3) | 7.3 (13.8) |
| 16* | F | 0 | 8 | 5 | 7 | 0 | +2.8 | −3.8 | +2.6 | −2.6 | +3.4 | 2.8 (7.1) | 4.6 (14.3) |
| 17 | F | 17 | 10 | 4 | 6 | 0 | +2.6 | −3.1 | +3.1 | −2.8 | +2.8 | 9.8 (4.3) | 9.6 (13.8) |
| 18 | F | 13 | 8 | 6 | 7 | 5 | +2.7 | −3.9 | +3.0 | −2.7 | +3.2 | 7.2 (5.7) | 13.0 (14.0) |
| 19 | M | 13 | 0 | 0 | 0 | 0 | − | − | − | − | − | 3.8 (6.1) | 17.5 (16.4) |
| 20** | M | 11 | 6 | 4 | 0 | 4 | +2.8 | −3.2 | +2.1 | −3.1 | +0.2 | 6.2 (3.5) | 9.8 (13.5) |
| 21 | F | 18 | 5 | 1 | 0 | 7 | − | − | − | − | − | 6.0 (5.7) | 9.9 (14.0) |
| 22 | M | 19 | − | − | − | − | − | − | − | − | − | 3.7 (5.7) | 7.6 (13.8) |
| 23 | F | 20 | − | − | − | − | +2.6 | −3.1 | +2.9 | −3.2 | −0.1 | 7.5 (5.7) | 5.2 (14.0) |
| 24* | F | 0 | 5 | 3 | 0 | 0 | +2.5 | −3.6 | +2.7 | −3.0 | +0.3 | 1.0 (4.3) | 2.5 (13.8) |
| 25 | M | 20 | − | − | − | − | − | − | − | − | − | 5.2 (5.2) | 6.2 (14.3) |
*Patients naïve to any therapy; ** Patient receiving SRT and ERT
Neuroalgological findings. *NPSI: Q1, Q10, Q11, Q12 choose by relevance. Q1 examines spontaneous cooling/burning pain, Q10 pain evoked by cold, Q11 spontaneous pins pain and Q12 pareaesthesia
Sensory thresholds (WDT, CDT, PHS, MDT) at QST refer to the dorsal foot and are reported as Z score. Values ±2.5 was considered abnormal
IENF density (IENF/mm) was considered abnormal when it was below the 5th percentile of the normative database. Finding for distal leg were compared with international normative data for distal leg age stratified and for proximal sites with published normative data not age stratified and also 86 age and sex-matched healthy subjects from our Laboratory (not published). IENF densities at proximal thigh were the following: for females 13.5 ± 2.3 (range 9.8–16.3); males 12.8 ± 2.7 (range 8.6–16.4). In detail, the mean normal values age and sex-stratified for proximal thigh were for females: <19 yrs.: 16.3; 20-29 yrs.: 15.0; 30-39 yrs.: 14.3; 40-49 yrs.:14.0; 50-59 yrs.: 13.8; 60-69 yrs.: 11.8; 70-79 yrs.: 10.2; 80-89 yrs. 9.8. For males: <19 yrs.: 16.4; 20-29 yrs.: 15.2; 30-39 yrs.: 14.1; 40-49 yrs.:13.8; 50-59 yrs.: 13.5; 60-69 yrs.: 11.2; 70-79 yrs.: 9.8; 80-89 yrs.: 8.6