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Demyelinating X-linked Charcot–Marie–Tooth disease: Unusual electrophysiological findings

✍ Scribed by F. Tabaraud; E. Lagrange; P. Sindou; A. Vandenberghe; N. Levy; J.M. Vallat

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
220 KB
Volume
22
Category
Article
ISSN
0148-639X

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✦ Synopsis

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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