Table 1
Clinical, electrophysiological, and pathological data from Japanese MPZ Thr124Met patients
| Patients, family | Age at onset (years), sex | Initial symptom | Gait disturbance | Pes cavus/ pes planus | Dysaesthesia | Pupillary abnormality | Deafness | Median n MNCV (m/s) | Median n CMAP (mV) | Sural nerve pathology |
|---|---|---|---|---|---|---|---|---|---|---|
| Normal nerve conduction velocity values: motor median nerve, >45–65 m/s. Normal amplitude values: motor median nerve, >4–25 mV. | ||||||||||
| C, pes cavus; F, female; M, male; MF, myelinated fibres; MPZ, myelin protein zero; NCV, nerve conducting velocity; ND, not done; OB, onion bulb; P, pes planus. | ||||||||||
| Tottori, A-1 | 57, M | Gait disturbance | + | C | + | + | + | 34.9 | 10.0 | OB, axonal loss |
| A-2 | 70, F | Gait disturbance | + | P | + | + | + | 50.5 | 4.0 | |
| A-3 | 57, M | Dysaesthesia | − | C | + | − | − | |||
| Tottori, B-1 | 40, F | Dysaesthesia | + | C | + | + | + | ND | ND | Decreased MF, OB(−) |
| B-2 | 40, F | Dysaesthesia | − | C | + | + | − | 51.2 | 10.1 | |
| B-3 | 36, M | Dysaesthesia | + | P | + | + | − | 47.5 | 2.5 | Decreased MF, |
| B-4 | 20, M | Dysaesthesia, cramp | − | C | + | + | − | 47.1 | 11.1 | Myelin ovoid |
| Tottori, C-1 | 60, M | Gait disturbance | + | P | + | + | + | 35.8 | 2.0 | Decreased MF |
| C-2 | 50, M | Gait disturbance | + | C | + | + | + | 45.4 | 0.66 | Small OB |
| Tottori, D-1 | 50, M | Dysaesthesia | + | P | + | + | + | 61.2 | 6.8 | |
| D-2 | 60, F | Dysaesthesia | − | P | + | − | + | 69.9 | ||
| Tottori, E-1 | 44, F | Muscle weakness | + | C | + | + | + | 38.5 | 2.0 | Decreased MF, OB(−) |
| Tottori, F-1 | 65, M | Gait disturbance | + | C | + | + | + | 38.8 | 0.25 | |
| Nara | 50, F | Gait disturbance | + | C | + | + | + | 31.0 | 1.6 | Decreased MF, OB(−) |
| Aichi | Dysaesthesia | + | C | + | + | − | 40.0 | 2.3 | Sprouting, OB(−) | |
| Ibarag | 67 | Photophobia | + | C | + | + | + | 40.0 | 1.5 | Sprouting, OB(−) |
