Skip to main content

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.