title: Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).
abstract: Seventeen cases of dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I) with infantile onset were studied. Not only clinical and electrophysiological data, but also the g ratio (axon diameter to fibre diameter), considered to be a distinguishing feature between HMSN type I and HMSN type III, showed overlap. Morphological and morphometrical investigations already revealed a lack of small and large diameter myelinated axons at an early stage, and a demyelinating process most active in early childhood followed later by axonal loss. It was concluded that the histopathology of HMSN type I cannot be sufficiently explained by axonal atrophy with secondary demyelination.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: A A
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: E M
authors.initials: EM
authors.lastname: Joosten
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: F G
authors.initials: FG
authors.lastname: Jennekens
authors.forename: T W
authors.initials: TW
authors.lastname: Janssen-van Kempen
mesh_terms: D000200:Action Potentials; D000293:Adolescent; D000328:Adult; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009412:Nerve Fibers / Q000648:ultrastructure; D009431:Neural Conduction; D010375:Pedigree; D010543:Peroneal Nerve / Q000503:physiopathology*; D013497:Sural Nerve / Q000473:pathology* / Q000503:physiopathology*