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Table 1 Patients’ characteristics

From: Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype

     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 - - - -
  1. 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.