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Table 2 Neurophysiology of the patients with missense variants in HINT1

From: HINT1 neuropathy in Norway: clinical, genetic and functional profiling

 

Sex

Age at

R/L

Motor nerves

Sensory nerves

EMG chronic denervation

Onset

(years)

Examination

(years)

Median

Ulnar

Peroneal

Tibial

Median

Ulnar

Sural

CMAP

CV

CMAP

CV

CMAP

CV

CMAP

CV

SNAP

CV

SNAP

CV

SNAP

CV

Normal values → 

  

4.0

49.0

4.0

49.0

3.0

41.0

3.0

41.0

12.0

46.0

17.0

47.0

17.0

44.0

 

Patient 1

6

12

R

4.3

43

5.3

46

3.3

45

0.2

A

10.6

47

3.0

51

4.4

40

Present

Patient 2

20*

32

R

5.6

42.5

1.8

35.3

A

A

0.1

A

9.4

45.9

1.0

36.5

0.9

18.4

   

36

R

1.3

36.1

A

A

A

A

2.8

45.3

2.9

26.6

Present

  1. CMAP compound motor action potential (mV), SNAP sensory nerve action potential (µV), CV conduction velocity (m/s), A absent evoked response, – not measured, R/L right/left
  2. Abnormal values are represented in bold
  3. *Onset age self-reported by the patient