title: Giant axonal neuropathy: report on a case with focal fiber loss.
abstract: We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.
authors.affiliation: Neurological Institute, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: E
authors.initials: E
authors.lastname: Fernandez
authors.forename: S
authors.initials: S
authors.lastname: Magi
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D001369:Axons / Q000648:ultrastructure*; D002675:Child, Preschool; D004594:Electrophysiology; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009412:Nerve Fibers / Q000648:ultrastructure; D009422:Nervous System Diseases / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology