Table 2 Electrophysiological studies of HINT1 patients
From: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
ID | Age (y) | Side | Motor | Sensory | EMG | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Median | Ulnar | Peroneal | Tibial | Median | Ulnar | Sural | Sp. Act. | N. dis. | ||||||||||
CMAP (mV) | CV (m/s) | CMAP (mV) | CV (m/s) | CMAP (mV) | CV (m/s) | CMAP (mV) | CV (m/s) | SNAP (µV) | CV (m/s) | SNAP (µV) | CV (m/s) | SNAP (µV) | CV (m/s) | |||||
Lit1.1 | 45 | L | 0.09 | 18.2 | 0.39 | 39.8 | ND | ND | ND | ND | NA | NA | NA | NA | NA | NA | + | ND |
Lit2.4 | 40 | R | 7.6 | 52.5 | 6.62 | 56.4 | ND | ND | 0.55 | 35.1 | 75.0 | 52.2 | 57.4 | 50.5 | 27.8 | 45.5 | + | + |
Lit3.3 | 18 | R | 5.15 | 51.3 | 7.7 | 46.8 | 1.12 | 34.4 | 2.9 | 36.7 | 92.1 | 57.5 | 57.0 | 61.1 | 21.5 | 42.1 | + | ND |
|  |  | L | – | – | – | – | ND | ND | 4.35 | 40.0 | – | – | – | – | 14.4 | 43.2 | ||
Lit3.4 | 19 | R | 6.4 | 48.8 | 3.87 | 58.8 | ND | ND | 0.8 | 34.8 | 95.0 | 60.2 | 78.3 | 53.9 | 20.1 | 36.5 | + | + |
|  |  | L | – | – | – | – | ND | ND | 1.77 | 33.3 | – | – | – | – | 22.3 | 35.0 | ||
Lit4 | 18 | R | 0.32 | 47.9 | 0.78 | 50.0 | ND | ND | 0.3 | 39.7 | 32.0 | 53.3 | 26.0 | 52.6 | – | – | + | + |
|  |  | L | – | – | – | – | – | – | – | – | – | – | – | – | 7.5 | 42.7 | ||
Lit5 | 21 | R | 5.13 | 49.0 | 3.2 | 49.0 | 0.77 | 35.9 | 2.3 | 36.7 | 37.3 | 53.3 | 14.0 | 52.9 | ND | ND | + | ND |
Lit6 | 15 | R | 4.3 | 50.0 | 1.2 | 50.0 | – | – | – | – | – | – | – | – | – | – | + | + |
Lit7 | 42 | R | ND | ND | 0.8 | 50.0 | ND | ND | ND | ND | 33.3 | 54.2 | 31.3 | 50.0 | ND | ND | ND | ND |
|  |  | L | – | – | – | – | ND | ND | ND | ND | – | – | – | – | ND | ND | ||
Lit8 | 33 | R | 8.7 | 47.0 | 4.1 | 46.2 | ND | ND | ND | ND | 23.5 | 47.1 | 12.8 | 45.1 | ND | ND | ND | ND |
| Â | Â | L | 7.3 | 47.8 | 5.5 | 44.9 | ND | ND | ND | ND | 28.3 | 57.0 | 10.5 | 47.4 | ND | ND | ||
USA1 | 41 | R | 9.8 | 52 | 3.4 | 57 | ND | ND | 0.08 | 40 | 27.2 | 58 | 8.4 | 63 | 16.4 | 34 | + | ND |
|  |  | L | – | – | – | – | – | – | – | – | – | – | – | – | – | – | ||
USA1 | 47 | R | 12.4 | 50 | 3.9 | 57 | ND | ND | ND | ND | 19.5 | 61 | 9.0 | 50 | 10.4 | 41 | + | ND |
|  |  | L | – | – | – | – | – | – | – | – | – | – | – | – | – | – | ||