Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Charcot-Marie-Tooth Disease / complications*
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Charcot-Marie-Tooth Disease / genetics*
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Charcot-Marie-Tooth Disease / immunology
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Chromosomes, Human, Pair 17 / genetics
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Female
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Gene Duplication
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Guillain-Barre Syndrome / genetics*
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Guillain-Barre Syndrome / immunology
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Guillain-Barre Syndrome / physiopathology
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Humans
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Immunoglobulins, Intravenous / therapeutic use
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Macrophages / immunology
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Macrophages / pathology
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Macrophages / ultrastructure
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Microscopy, Electron
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Muscle Weakness / drug therapy
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Muscle Weakness / immunology
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Muscle Weakness / physiopathology
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Mutation / genetics
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Myelin Proteins / deficiency*
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Myelin Proteins / genetics
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Myelin Sheath / immunology
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Myelin Sheath / pathology
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Myelin Sheath / ultrastructure
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Nerve Fibers, Myelinated / metabolism
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Nerve Fibers, Myelinated / pathology
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Nerve Fibers, Myelinated / ultrastructure
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Peripheral Nerves / immunology*
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Peripheral Nerves / metabolism
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Peripheral Nerves / pathology
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Schwann Cells / immunology
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Schwann Cells / pathology
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Schwann Cells / ultrastructure
Substances
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Immunoglobulins, Intravenous
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Myelin Proteins
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PMP22 protein, human