Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
| العنوان: | Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings |
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| المؤلفون: | Jean-Michel Vallat, Philippe Sindou, Antoon Vandenberghe, E. Lagrange, F. Tabaraud, Nicolas Lévy |
| المصدر: | Muscle & Nerve. 22:1442-1447 |
| بيانات النشر: | Wiley, 1999. |
| سنة النشر: | 1999 |
| مصطلحات موضوعية: | education.field_of_study, Pathology, medicine.medical_specialty, Nerve biopsy, medicine.diagnostic_test, Physiology, business.industry, Motor nerve, Disease, medicine.disease, Central nervous system disease, Cellular and Molecular Neuroscience, Electrophysiology, Tooth disease, Degenerative disease, Physiology (medical), medicine, Connexin 32, Neurology (clinical), education, business |
| الوصف: | 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. |
| تدمد: | 1097-4598 0148-639X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::6276f2b6da5ab0484b5e979e59a9aca3Test https://doi.org/10.1002Test/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6 |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........6276f2b6da5ab0484b5e979e59a9aca3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10974598 0148639X |
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