Table 1.
Patients’ characteristics
| Neurological manifestations | WML characterization | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient # | m/f | Age [years] | Genotype | General | Neuropathic pain + | NRS (most severe pain) | NRS (mean pain) | IENFD (anti-PGP9.5) [fibers/mm] | QST | Cerebrovascular manifestations [age of onset, years] | Localization | FS | V [ml] |
| -10T carriers with neurological manifestations | |||||||||||||
| 1* | f | 63 | -10T/X | Neuropathic pain, allodynia, autonomic neuropathy (postprandial gastrointestinal dysfunction) | Definite | Before ERT: 10 | Before ERT: 8 | 4.64† | Abnormal | WML, TIA [62] | Periventricular and subcortical | 1 | 10.9 |
| After ERT: 4 | After ERT: 2 | ||||||||||||
| 2 | f | 43 | -10T/X | Neuropathic pain, allodynia | Definite | 7 | 4 | 4.4† | Abnormal | - | - | - | - |
| 3 | m | 12 | -10T/Y | Neuropathic pain, chronic headache | Definite | 4 | 1 | NA | Abnormal | - | - | - | - |
| 4 | m | 15 | -10T/Y | Neuropathic pain, autonomic neuropathy (postprandial gastrointestinal dysfunction) | Definite | 6 | 3 | NA | Abnormal | - | - | - | - |
| 5 | f | 46 | -10T/X | Neuropathic pain | Probable | 6 | 5 | NA | NA | - | - | - | - |
| 6 | f | 53 | -10T/X | Neuropathic pain | Probable | 7 | 6 | NA | Normal | - | - | - | - |
| 7 | f | 65 | -10T/X | Neuropathic pain, allodynia | Definite | 9 | 5 | 4.65† | Abnormal | TIA [64] | - | - | - |
| 8 | f | 49 | -10T/X | Neuropathic pain, chronic headache | Possible | 8 | 6 | NA | NA | WML, TIA [48] | Periventricular and subcortical, confluent | 2 | 17.8 |
| 9 | f | 55 | -10T/X | Neuropathic pain | Probable | 10 | 8 | 13.4 | Abnormal | - | - | - | - |
| 10 | f | 54 | -10T/-10T | Neuropathic pain | Definite | 9 | 6 | NA | Abnormal | TIA [52] | - | - | - |
| 11 | f | 72 | -10T/X | Neuropathic pain | Definite | 3 | 5 | 3.7† | Abnormal | WML | Periventricular and subcortical, confluent | 2 | 22.6 |
| 12 | m | 52 | -10T/Y | None | No pain | 0 | 0 | NA | NA | Stroke [48] | - | - | - |
| 13 | m | 35 | -10T/Y | None | No pain | 0 | 0 | NA | NA | Stroke [34] | - | - | - |
| -10T carriers without neurological manifestations | |||||||||||||
| 14 | m | 19 | -10T/Y | none | No pain | 0 | 0 | NA | Normal | - | - | - | - |
| 15 | m | 33 | -10T/Y | none | No pain | 0 | 0 | NA | NA | - | - | - | - |
†reduced intra-epidermal nerve fiber density (IENFD; <9 fibers/mm); f: female; m: male; WML: white matter lesions; TIA: transient ischemic attack; QST: quantitative sensory testing; NA: not available; +: according to the Neuropathic Pain Special Interest Group (NeuPSIG); NRS: numeric rating scale (0–10 scale; 0: no pain, 10: worst possible pain); FS: Fazekas score: 0: no WML, 1: punctate foci of WML, 2: beginning confluence of foci of WML, and 3: large confluent areas of WML; V: volume; FD: Fabry disease; *: index patient.