title: Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.
abstract: Wolfram syndrome is a rare, autosomal recessive, neurodegenerative disorder presenting with the main clinical symptoms of childhood-onset diabetes mellitus, optic atrophy, diabetes insipidus and deafness (DIDMOAD). Later stages of the disease are dominated by neurological complications and death occurs early in life with a median life expectancy of 30 years. Here we present a 44 year old patient who presented to our hospital with central respiratory failure, cognitive impairment, ataxia and parkinsonism and was first diagnosed with Wolfram syndrome. DNA sequence analysis revealed a novel pathogenic mutation within the WFS1 gene. Advanced clinical and imaging studies performed in this patient highlight the neurodegenerative process in Wolfram syndrome and expand our knowledge on the mutational spectrum of the disease.
authors.affiliation: Department of Neurology, Friedrich-Alexander University Erlangen, Germany. anne.waschbisch@uk-erlangen.de
authors.forename: Anne
authors.initials: A
authors.lastname: Waschbisch
authors.forename: Bastian
authors.initials: B
authors.lastname: Volbers
authors.forename: Tobias
authors.initials: T
authors.lastname: Struffert
authors.forename: Juliane
authors.initials: J
authors.lastname: Hoyer
authors.forename: Stefan
authors.initials: S
authors.lastname: Schwab
authors.forename: Juergen
authors.initials: J
authors.lastname: Bardutzky
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D014929:Wolfram Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein