Nerve conduction studies in CMT in a cohort from Turkey

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Muscle Nerve. 2011 Mar 14. doi: 10.1002/mus.21932. [Epub ahead of print]

Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.

Deymeer F, Matur Z, Poyraz M, Battaloglu E, Oflazer-Serdaroglu P, Parman Y.

Department of Neurology, Istanbul Medical Faculty, Istanbul University, Capa

34390, Istanbul, Turkey.

Abstract

INTRODUCTION: In the demyelinating form of Charcot-Marie-Tooth disease, median

motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral

myelin protein 22 (PMP22) duplications, in contrast to higher MCVs in connexin

32 gene (Cx32) mutations and lower MCVs in the demyelinating form of myelin

protein zero gene (MPZ) mutations.

METHODS: Nerve conduction studies were performed in 64 families with both common

and rare mutations.

RESULTS: Mean MCV of the median nerve was 20 ± 5 m/s in PMP22 duplications, 34 ±

6 m/s in Cx32 mutations, 20 ± 9 m/s in KIAA1985 (SH3TC2) mutations, and 11 ± 8

m/s in MPZ mutations. Conduction was generally uniform; however, conduction

blocks were present in 1 patient each with the MPZ mutation and PMP22

duplication, both with unusual phenotypes.

CONCLUSION: Our results confirm those of the other investigators.

Electrophysiological results of the rare KIAA1985 (SH3TC2) mutation reveal that

their MCVs span a broad range and that conduction is uniform.