title: Evidence of widespread axonal pathology in Wolfram syndrome.
abstract: Wolfram syndrome, characterised by diabetes insipidus, diabetes mellitus, optic atrophy sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown. We report the post-mortem findings on a patient with well-documented Wolfram syndrome. The brain showed severe degeneration of the optic nerves, chiasm and tracts as well as severe loss of neurons from the lateral geniculate nuclei, basis pontis, and the hypothalamic paraventricular and supraoptic nuclei. In addition, there was a widespread axonal dystrophy with axonal swellings in the pontocerebellar tracts, the optic radiations, the hippocampal fornices and the deep cerebral white matter. This widespread axonal pathology parallels the pattern of neurodegeneration and in many areas is more striking than neuronal loss.
authors.affiliation: Department of Pathology and Laboratory Medicine, The Toronto Hospital, Western Division, University of Toronto, Ontario, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Shannon
authors.forename: L
authors.initials: L
authors.lastname: Becker
authors.forename: J
authors.initials: J
authors.lastname: Deck
mesh_terms: D000328:Adult; D001284:Atrophy; D001369:Axons / Q000473:pathology*; D002552:Cerebral Ventricles / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D011149:Pons / Q000473:pathology*; D014793:Visual Cortex / Q000473:pathology; D014929:Wolfram Syndrome / Q000473:pathology*