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Journal of Neurology
Published in: Journal of Neurology 8/2017

01-08-2017 | Review

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

Authors: José Berciano, Antonio García, Elena Gallardo, Kristien Peeters, Ana L. Pelayo-Negro, Silvia Álvarez-Paradelo, José Gazulla, Miriam Martínez-Tames, Jon Infante, Albena Jordanova

Published in: Journal of Neurology | Issue 8/2017

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Abstract

Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation. A systematic computer-based literature search was conducted on PubMed, using the following MeSH: (1) intermediate Charcot–Marie–Tooth; (2) X-linked intermediate Charcot–Marie–Tooth; and (3) X-linked Charcot–Marie–Tooth and electrophysiology. We retrieved 225 articles reporting X-linked CMT or intermediate CMT with electrophysiological information. After eligibility, 156 papers were used for this review. In assessing median MNCV, compound muscle action potential (CMAP) amplitudes were taken into account. In cases with attenuated CMAP and wherever possible, proximal median MNCV was used for accurate definition of conduction slowing in the intermediate range. In the vast majority of males with X-linked CMT associated with GJB1 mutation (CMTX1), median MNCV was intermediate. CMT associated with DRP2 mutation is another well-documented X-linked intermediate disorder. Autosomal dominant intermediate CMT (DI-CMT) encompasses 11 different types; six of them with assigned phenotype MIM number and the remaining five being unnumbered. Based on available electrophysiological information, we wonder if DI-CMTA should be reclassified within CMT2. Autosomal recessive intermediate CMT (RI-CMT) covers four numbered MIM phenotypes though, in accordance with reported electrophysiology, two of them (RI-CMTB and RI-CMTD) should probably be reclassified within AR-CMT2. We conclude that intermediate CMT is a complex inherited syndrome, whose characterization requires a specific electrophysiological protocol comprising evaluation of upper limb proximal nerve trunks when distal CMAP amplitudes are reduced, and that an updated version of MIM phenotype numbering is needed.
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Metadata
Title
Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review
Authors
José Berciano
Antonio García
Elena Gallardo
Kristien Peeters
Ana L. Pelayo-Negro
Silvia Álvarez-Paradelo
José Gazulla
Miriam Martínez-Tames
Jon Infante
Albena Jordanova
Publication date
01-08-2017
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 8/2017
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-017-8474-3

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