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      Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.

      Journal of the Neurological Sciences
      genetics, Magnetic Resonance Imaging, Wolfram Syndrome, Humans, pathology, Adult, diagnosis, Brain, Mutation, Membrane Proteins, Female

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          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. Copyright © 2010 Elsevier B.V. All rights reserved.

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          Author and article information

          Journal
          10.1016/j.jns.2010.08.044
          20875904

          Chemistry
          genetics,Magnetic Resonance Imaging,Wolfram Syndrome,Humans,pathology,Adult,diagnosis,Brain,Mutation,Membrane Proteins,Female

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