Inflammatory demyelination in a patient with CMT1A
| Autor: | Klaus G. Petry, Claude Vital, Xavier Ferrer, Alain Lagueny, Catherine Ribière-Bachelier, Anne Vital, Philippe Latour |
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| Rok vydání: | 2003 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty medicine.diagnostic_test Physiology business.industry Chronic inflammatory demyelinating polyneuropathy Disease medicine.disease nervous system diseases Central nervous system disease Cellular and Molecular Neuroscience Myelin Degenerative disease medicine.anatomical_structure Physiology (medical) Gene duplication Biopsy Genetic predisposition Medicine Neurology (clinical) business Neuroscience |
| Zdroj: | Muscle & Nerve. 28:373-376 |
| ISSN: | 0148-639X |
| Popis: | We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage-associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds. |
| Databáze: | OpenAIRE |
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