title: Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
abstract: We report a severe phenotype of Charcot-Marie-Tooth (CMT) disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. Ultrastructural examination of a nerve biopsy showed non- or partly myelinated axons which were surrounded by "onion bulb" formations mainly composed of concentric basement membranes and characterized by the presence of prominent concentric or longitudinal collagen fibrils interspersed with basement membranes. PMP22 point mutations are rare and responsible for polyneuropathies often demyelinating with onion bulb formations composed of concentric and redundant basement membranes. Entrapment of prominent collagen fibrils within onion bulb formations is unusual, even in the large spectrum of CMT disease with long duration and severe damage.
authors.affiliation: Institut des Maladies Neurodégénératives, CNRS UMR 5293, Université de Bordeaux, Bordeaux, France. anne.vital@chu-bordeaux.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Vital
authors.forename: Guilhem
authors.initials: G
authors.lastname: Sole
authors.forename: Philippe
authors.initials: P
authors.lastname: Casenave
authors.forename: Corinne
authors.initials: C
authors.lastname: Magdelaine
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer
authors.forename: Claude
authors.initials: C
authors.lastname: Vital
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation; D013497:Sural Nerve / Q000648:ultrastructure
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human