title: Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers.
abstract: Two brothers with a presumably hereditary motor and sensory polyneuropathy (HMSN), sensory-neural hearing loss and mental retardation had clinical features and neuropathological changes in the sural nerve which may set the disorder apart from previously described types of HMSN. Consecutive sural nerve biopsies from one case showed absence of large myelinated fibers and a normal complement of small fibers. We infer from our findings that a developmental abnormality with faulty growth and subsequent axonal atrophy may be responsible.
authors.affiliation: Institute of Neurology, University of Genova, Italy.
authors.forename: G L
authors.initials: GL
authors.lastname: Mancardi
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: E
authors.initials: E
authors.lastname: Veneselli
authors.forename: M
authors.initials: M
authors.lastname: Doria
authors.forename: M
authors.initials: M
authors.lastname: Abbruzzese
authors.forename: M
authors.initials: M
authors.lastname: Tabaton
authors.forename: C
authors.initials: C
authors.lastname: Borrone
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003638:Deafness / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D008854:Microscopy, Electron; D009412:Nerve Fibers / Q000648:ultrastructure*; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure*; D009431:Neural Conduction; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D013577:Syndrome