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Comparison of CMT1A and CMT2: similarities and differences

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Abstract

To evaluate the clinical and electrophysiological similarities and differences between two large groups of patients with Charcot-Marie-Tooth disease, i.e. CMT1A and CMT2, we performed a post hoc comparison of clinical and electrophysiological data.

Most CMT1A and CMT2 patients had the classical CMT phenotype. Age of onset was significantly later in CMT2. Total areflexia was present in approximately half of the CMT1A patients whereas it was rare in CMT2. Foot deformities and weakness of knee extensor and foot dorsal flexor muscles were more frequent in CMT1A. Median nerve motor nerve conduction velocities (MNCV) were always less than 38 m/s in CMT1A patients, whereas this was also the case in 16% of the CMT2 patients. Sensory nerve conduction velocities showed less overlap. In both CMT1A and CMT2 CMAP and SNAP amplitudes were often reduced or not obtainable in the legs. In CMT1A, SNAP amplitude was more reduced and SNAP duration more prolonged than in CMT2.

We conclude that there are no robust clinical signs or symptoms that differentiate between CMT1A and CMT2 patients. Electrodiagnostical studies show a length-dependent motor and sensory axonal dysfunction in both CMT-types. Additional SNAP and SNCV evaluation may be helpful in focusing molecular genetic analysis in the occasional case of CMT2 showing slow motor nerve conduction velocities overlapping with CMT1A values. The reduction of CMAP and SNAP amplitudes in CMT1A is probably a combined effect of demyelination and axonal dysfunction.

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Abbreviations

CMAP:

Compound muscle action potential

CMT:

Charcot-Marie-Tooth disease

HMSN:

Hereditary motor and sensory neuropathy

MNCV:

Motor nerve conduction velocity

SNAP:

Sensory nerve action potential

SNCV:

Sensory nerve conduction velocity

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Acknowledgments

We thank the Dutch patient organisation (Vereniging Spierziekten Nederland) for informing patients about the study and the patients for their participation. This study was supported by funds from the Prinses Beatrix Fonds, The Hague (HB and CV), and the Medical Research Council of the Netherlands organisation for Scientific Research (940-33-024, CV) The Hague, the Netherlands.

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Authors and Affiliations

  1. Dept. of Neurology, H2-222, Academic Medical Center, University of Amsterdam, PO box 22660, 1100, DE, Amsterdam, The Netherlands

    Henriette M.E. Bienfait, Camiel Verhamme, Ivo N. van Schaik, Johannes H.T.M. Koelman, Bram W. Ongerboer de Visser & Marianne de Visser

  2. Dept. of Clinical Epidemiology and Biostatistics, University of Amsterdam, The Netherlands

    Rob J. de Haan

  3. Neurogenetics Laboratory, Academic Medical Center, University of Amsterdam, The Netherlands

    Frank Baas

  4. Dept. of Neurology, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands

    Ivo N. van Schaik

  5. Institute of Neurology, University Medical Center Nijmegen, The Netherlands

    Baziel G.M. van Engelen

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  1. Henriette M.E. Bienfait
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  2. Camiel Verhamme
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  4. Johannes H.T.M. Koelman
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  6. Rob J. de Haan
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  7. Frank Baas
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  8. Baziel G.M. van Engelen
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Corresponding author

Correspondence to Camiel Verhamme.

Additional information

Drs. Bienfait and Verhamme contributed equally

Received in revised form: 20 March 2006

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Bienfait, H.M., Verhamme, C., van Schaik, I.N. et al. Comparison of CMT1A and CMT2: similarities and differences. J Neurol 253, 1572–1580 (2006). https://doi.org/10.1007/s00415-006-0260-6

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  • DOI: https://doi.org/10.1007/s00415-006-0260-6

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