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01.12.2006 | ORIGINAL COMMUNICATION

Comparison of CMT1A and CMT2: similarities and differences

verfasst von: Henriette M.E. Bienfait, Camiel Verhamme, Ivo N. van Schaik, Johannes H.T.M. Koelman, Bram W. Ongerboer de Visser, Rob J. de Haan, Frank Baas, Baziel G.M. van Engelen, Marianne de Visser

Erschienen in: Journal of Neurology | Ausgabe 12/2006

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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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Titel: Comparison of CMT1A and CMT2: similarities and differences
verfasst von: Henriette M.E. Bienfait
Camiel Verhamme
Ivo N. van Schaik
Johannes H.T.M. Koelman
Bram W. Ongerboer de Visser
Rob J. de Haan
Frank Baas
Baziel G.M. van Engelen
Marianne de Visser
Publikationsdatum: 01.12.2006
Verlag: Steinkopff-Verlag
Erschienen in: Journal of Neurology / Ausgabe 12/2006
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-006-0260-6

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