Table 2.
Summary of electrophysiological studies in asymptomatic gene carriers and symptomatic TTR-FAP
| Case | Age/Sex | Mutation | SSR palmar | SSR plantar | Peroneal nerve |
Tibial nerve |
Sural nerve |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NCV | DML | CMAP | NCV | DML | CMAP | NCV | SNAP | |||||||
| Asymptomatic gene carriers | ||||||||||||||
| 01 | 33/F | Val30Met | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | ||
| 02 | 35/F | Val30Met | Normal | Normal | 50 m/s | 4.9 ms | 12.0 mV | 46.8 m/s | 4.2 ms | 16 mV | 43.1 m/s | 14 µV | ||
| 03 | 26/F | Leu58His | Normal | Normal | 51 m/s | 4.5 ms | 8.0 mV | 52 m/s | 3.7 ms | 14.5 mV | 44.8 m/s | 5.3 µV | ||
| 04 | 33/F | Leu58His | Normal | Normal | 49 m/s | 2.91 ms | 8.0 mV | 51 m/s | 3.6 ms | 21.5 mV | 51 m/s | 8.9 µV | ||
| 05 | 55/M | Val30Met | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | ||
| 06 | 66/M | Val30Met | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | ||
| 07 | 52/M | Tyr69His | Normal | Normal | N/A | N/A | N/A | 45 m/s | 4.3 ms | 5.2 mV | 55 m/s | 6.5 µV | ||
| Symptomatic TTR-FAP | ||||||||||||||
| 08 | 57/M | Val30Met | Normal | Absent | 36 m/s | 9.8 ms | 0.74 mV | 34 m/s | 7.0 ms | 0.88 mV | Absent | Absent | ||
| 09 | 49/M | Val30Met | Normal | Normal | 36 m/s | 5.83 ms | 0.76 mV | 41 m/s | 4.17 ms | 3.3 mV | Absent | Absent | ||
| 10 | 35/F | Glu54Gly | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | ||
| 11 | 37/F | Phe64Val | Absent | Absent | Absent | Absent | Absent | 34.3 m/s | 5.2 ms | 0.41 mV | Absent | Absent | ||
| 12 | 46/F | Val30Met | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | ||
| 13 | 26/F | Val30Met | Normal | Absent | 35 m/s | 7.0 ms | 1.5 mV | Absent | Absent | Absent | Absent | Absent | ||
| 14 | 58/M | Ile107Val | Delayed | Absent | 43 m/s | 5.2 ms | 0.3 mV | 29.4 m/s | 8.2 ms | 0.3 mV | Absent | Absent | ||
| 15 | 59/M | Val30Met | Absent | Absent | 42 m/s | 4.79 ms | 3.4 mV | 42 m/s | 5.43 ms | 6.0 mV | Absent | Absent | ||
| 16 | 62/M | Val30Met | Delayed | Delayed | Absent | Absent | Absent | 41 m/s | 4.8 ms | 2.2 mV | Absent | Absent | ||
| 17 | 59/M | Val30Met | Normal | Delayed | 27.4 m/s | 7.5 ms | 0.4 mV | 34 m/s | 5.9 ms | 0.77 mV | Absent | Absent | ||
| 18 | 58/M | Leu78His | Normal | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | ||
| 19 | 64/M | Thr60Ala | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent | ||
| 20 | 48/M | Glu54Gln | N/A | Absent | 35 m/s | 6.26 ms | 2.9 mV | 40 m/s | 5.03 ms | 6.6 mV | Absent | Absent | ||
CMAP = compound muscle action potential; DML = distal motor latency; NCV = nerve conduction studies; SNAP = sensory nerve action potential; SSR = sympathetic skin response.