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Case Reports
. 1999 Oct;22(10):1442-7.
doi: 10.1002/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6.

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

F Tabaraud  1 , E Lagrange, P Sindou, A Vandenberghe, N Levy, J M Vallat
Affiliations
Case Reports

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

F Tabaraud et al. Muscle Nerve. 1999 Oct.

Abstract

X-linked Charcot-Marie-Tooth disease (CMT-X) is caused by mutations of connexin-32 (Cx-32), which encodes a gap-junction protein. Whether the neuropathy is primarily demyelinative or axonal remains to be established. We report findings of prominent demyelination in a 71-year-old woman with late-onset disease. Electrophysiological studies revealed a nonuniform slowing of motor conduction velocities and dispersion of compound action potentials indicative of a demyelinating process which was confirmed by nerve biopsy. Such electrophysiological features are unusual in hereditary neuropathies and are more commonly found with acquired chronic demyelinating neuropathies. A systematic search confirmed the molecular genomic diagnosis of CMT-X, illustrating the value of such tests in sporadic cases. Severity of clinical symptoms and signs may vary with age and sex of the patient. The pathology of CMT-X in other reported cases has been variably interpreted as axonal, demyelinating, or showing both features. Our observations emphasize the demyelinative nature.

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