title: Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
abstract: The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.
authors.affiliation: Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy. gianmaria.fabrizi@univr.it
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: T
authors.initials: T
authors.lastname: Cavallaro
authors.forename: C
authors.initials: C
authors.lastname: Angiari
authors.forename: L
authors.initials: L
authors.lastname: Bertolasi
authors.forename: I
authors.initials: I
authors.lastname: Cabrini
authors.forename: M
authors.initials: M
authors.lastname: Ferrarini
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
mesh_terms: D000328:Adult; D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004568:Electrodiagnosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D016900:Neurofilament Proteins / Q000235:genetics* / Q000378:metabolism* / Q000648:ultrastructure; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L