Table 1

 Clinical, electrophysiological, and pathological data from Japanese MPZ Thr124Met patients

Patients, familyAge at onset (years), sexInitial symptomGait disturbancePes cavus/ pes planusDysaesthesiaPupillary abnormalityDeafnessMedian 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-157, MGait disturbance+C+++34.910.0OB, axonal loss
          A-270, FGait disturbance+P+++50.54.0
          A-357, MDysaesthesia−C+−−
Tottori, B-140, FDysaesthesia+C+++NDNDDecreased MF, OB(−)
          B-240, FDysaesthesia−C++−51.210.1
          B-336, MDysaesthesia+P++−47.52.5Decreased MF,
          B-420, MDysaesthesia, cramp−C++−47.111.1Myelin ovoid
Tottori, C-160, MGait disturbance+P+++35.82.0Decreased MF
          C-250, MGait disturbance+C+++45.40.66Small OB
Tottori, D-150, MDysaesthesia+P+++61.26.8
          D-260, FDysaesthesia−P+−+69.9
Tottori, E-144, FMuscle weakness+C+++38.52.0Decreased MF, OB(−)
Tottori, F-165, MGait disturbance+C+++38.80.25
Nara50, FGait disturbance+C+++31.01.6Decreased MF, OB(−)
AichiDysaesthesia+C++−40.02.3Sprouting, OB(−)
Ibarag67Photophobia+C+++40.01.5Sprouting, OB(−)