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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