Inflammatory demyelination in a patient with CMT1A.
Autor(es): Vital Anne; Vital Claude; Lagueny Alain; Ferrer Xavier; Ribière-Bachelier Catherine; Latour Philippe; Petry Klaus G.
Resumo: 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.
Imprenta: Muscle & Nerve, v. 28, n. 3, p. 373-376, 2003
Identificador do objeto digital: 10.1002/mus.10404
Descritores: Guillain-Barre Syndrome - Biosynthesis ; Guillain-Barre Syndrome - Cell ; Guillain-Barre Syndrome - Cytopathology ; Guillain-Barre Syndrome - Pathogenesis ; Guillain-Barre Syndrome - Proteins ; Guillain-Barre Syndrome - Antibodies ; Guillain-Barre Syndrome - Immunology
Data de publicação: 2003
