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Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
J Neurol. 2017 Aug; 264(8):1655-1677.JN

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.

Authors+Show Affiliations

Service of Neurology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain. jaberciano@humv.es. Professor Emeritus, Department of Medicine and Psychiatry, "Edificio Escuela Universitaria de Enfermería (cuarta planta)", Avda. de Valdecilla s/n, University of Cantabria, 39008, Santander, Spain. jaberciano@humv.es.Service of Clinical Neurophysiology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.Service of Radiology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.Service of Neurology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.Service of Clinical Neurophysiology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.Service of Neurology, Hospital Universitario Miguel Servet, Saragossa, Spain.Universidad de Cantabria (UC), Santander, Spain.Service of Neurology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.

Pub Type(s)

Journal Article
Review
Systematic Review

Language

eng

PubMed ID

28364294

Citation

Berciano, José, et al. "Intermediate Charcot-Marie-Tooth Disease: an Electrophysiological Reappraisal and Systematic Review." Journal of Neurology, vol. 264, no. 8, 2017, pp. 1655-1677.
Berciano J, García A, Gallardo E, et al. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. J Neurol. 2017;264(8):1655-1677.
Berciano, J., García, A., Gallardo, E., Peeters, K., Pelayo-Negro, A. L., Álvarez-Paradelo, S., Gazulla, J., Martínez-Tames, M., Infante, J., & Jordanova, A. (2017). Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. Journal of Neurology, 264(8), 1655-1677. https://doi.org/10.1007/s00415-017-8474-3
Berciano J, et al. Intermediate Charcot-Marie-Tooth Disease: an Electrophysiological Reappraisal and Systematic Review. J Neurol. 2017;264(8):1655-1677. PubMed PMID: 28364294.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. AU - Berciano,José, AU - García,Antonio, AU - Gallardo,Elena, AU - Peeters,Kristien, AU - Pelayo-Negro,Ana L, AU - Álvarez-Paradelo,Silvia, AU - Gazulla,José, AU - Martínez-Tames,Miriam, AU - Infante,Jon, AU - Jordanova,Albena, Y1 - 2017/03/31/ PY - 2017/03/08/received PY - 2017/03/24/accepted PY - 2017/03/23/revised PY - 2017/4/2/pubmed PY - 2018/4/19/medline PY - 2017/4/2/entrez KW - Autosomal dominant inheritance KW - Autosomal recessive inheritance KW - Axonal degeneration KW - Charcot–Marie–Tooth disease KW - Compound muscle action potential KW - Demyelination KW - Electrophysiology KW - Intermediate Charcot–Marie–Tooth disease KW - Motor conduction velocity KW - Nerve biopsy KW - OMIM KW - PRISMA statement KW - Proximal motor nerve conduction velocity KW - Systematic review KW - X-linked inheritance SP - 1655 EP - 1677 JF - Journal of neurology JO - J. Neurol. VL - 264 IS - 8 N2 - 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. SN - 1432-1459 UR - https://www.unboundmedicine.com/medline/citation/28364294/Intermediate_Charcot_Marie_Tooth_disease:_an_electrophysiological_reappraisal_and_systematic_review_ L2 - https://dx.doi.org/10.1007/s00415-017-8474-3 DB - PRIME DP - Unbound Medicine ER -