title: Sensory axonopathy in hereditary distal spinal muscular atrophy.
abstract: A girl of 14 year is presented with a distal spinal muscular atrophy (SMA) with autosomal recessive inheritance. The technical findings are in agreement with the diagnosis. Light microscopical examination of sural nerve biopsy, including teased fiber studies and morphometry, showed no abnormalities. Electron microscopical investigation however demonstrated axonal pathology. The question arises if distal SMA is a distal axonopathy mainly of motor nerves, but to some extent also of sensory nerves.
authors.affiliation: Centre of Neuromuscular Diseases, University Hospital Nijmegen, The Netherlands.
authors.forename: S T
authors.initials: ST
authors.lastname: Frequin
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: A A
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: E M
authors.initials: EM
authors.lastname: Joosten
mesh_terms: D000293:Adolescent; D001369:Axons / Q000648:ultrastructure*; D001706:Biopsy; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008854:Microscopy, Electron; D011901:Ranvier's Nodes / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology