title: Inflammatory demyelination in a patient with CMT1A.
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.
authors.affiliation: Department of Neuropathology, BP42, Victor Segalen University, 146 rue Léo-Saignat, 33076 Bordeaux, France. anne.vital@neuropath.u-bordeaux2.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Vital
authors.forename: Claude
authors.initials: C
authors.lastname: Vital
authors.forename: Alain
authors.initials: A
authors.lastname: Lagueny
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer
authors.forename: Catherine
authors.initials: C
authors.lastname: Ribière-Bachelier
authors.forename: Philippe
authors.initials: P
authors.lastname: Latour
authors.forename: Klaus G
authors.initials: KG
authors.lastname: Petry
mesh_terms: D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics* / Q000276:immunology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D020275:Guillain-Barre Syndrome / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008264:Macrophages / Q000276:immunology / Q000473:pathology / Q000648:ultrastructure; D008854:Microscopy, Electron; D018908:Muscle Weakness / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009185:Myelin Proteins / Q000172:deficiency* / Q000235:genetics; D009186:Myelin Sheath / Q000276:immunology / Q000473:pathology / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D010525:Peripheral Nerves / Q000276:immunology* / Q000378:metabolism / Q000473:pathology; D012583:Schwann Cells / Q000276:immunology / Q000473:pathology / Q000648:ultrastructure
chemical_list: D016756:Immunoglobulins, Intravenous; D009185:Myelin Proteins; C073687:PMP22 protein, human