Background: Myelin protein zero gene (MPZ) mutations may account for a small p roportion of cases of Charcot-Marie-Tooth disease (CMT). Different MPZ mutatio ns may be associated with different clinical and electrophysiological phenotypes .Objectives: To expand our understanding of the characteristics of nerve conduct ion velocity (NCV) in patients with different MPZ mutations, the authors collect ed and analysed the NCVvalues from patients with MPZ mutations. Materials and Me thods:The NCVs of fourteen patients from six families carrying MPZ mutations of Val58Asp, Ser63Phe, Thr65Ile,Arg98Cys,Arg98His, and Ser233fs were collected retr ospectively. Five of them had received nerve conduction studies (NCS) twice. The mutations were verified by polymerase chain reaction (PCR)-amplifications and nucleotide sequencing. Scatterplot analyses of media n motor NCV (MNCV) versus specific MPZ mutation were performed. Results: The med ian MNCV varied widely,with a mean of 16.3 m/s (SD=7.7 m/s) and a range of 5.1- 32.9 m/s. Median MNCVs of patients with particular MPZ mutations were similar. M oreover, Median MNCV did not change significantly over time. Conclusions: There was concordance between median MNCV and specific MPZ mutations.However, median M NCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mu tations from CMT1A patients with PMP22 mutations.
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