title: Neuropathy in Wolfram syndrome.
abstract: Wolfram syndrome (WFS) is a degenerative disease with neurological and endocrine disorders, characterized by the association of juvenile diabetes mellitus and bilateral optic atrophy. A polyneuropathy was exceptionally described but its characteristics are not well-established. In addition to our observation, we searched all case reports of patients with WFS in the medical literature (more than 600), and selected patients who underwent an EMG: twenty-one patients underwent an EMG, which was considered as abnormal in only 8 cases. The common profile was axonal sensory-motor polyneuropathy, sometimes with marked decrease of motor conduction velocities. This neuropathy could be due to diabetes mellitus, even though microangiopathic and macroangiopathic complications are rare in WFS. Another origin for this neuropathy could be a degenerative process in relationship with WFS.
authors.affiliation: Université de Poitiers, CHU de Poitiers, Clinique Neurologique, 2 rue de la Milétrie, 86021 Poitiers Cedex 05, France. s.mathis@chu-poitiers.fr
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mathis
authors.forename: Thierry
authors.initials: T
authors.lastname: Maisonobe
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Neau
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D004576:Electromyography; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009896:Optic Atrophy / Q000150:complications; D011115:Polyneuropathies / Q000150:complications* / Q000503:physiopathology; D014929:Wolfram Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein