title: The mitochondrial A3243G mutation involves the peripheral vestibule as well as the cochlea.
abstract: OBJECTIVE
  To evaluate vestibular function in patients with the mitochondrial A3243G mutation.
  
  
  METHODS
  Data from patients with the A3243G mutation attending an academic tertiary referral center were prospectively recorded.
  
  
  METHODS
  The clinical histories of 13 unrelated patients with the mitochondrial A3243G mutation (six mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; and seven maternally inherited diabetes and deafness) were recorded, in particular their history of vestibular symptoms. Vestibular examinations including caloric testing and vestibular evoked myogenic potentials in response to air-conducted sound (ACS-VEMPs) were performed. In seven patients who showed abnormal ACS-VEMP, VEMP in response to galvanic stimuli (galvanic-VEMP) were also recorded.
  
  
  RESULTS
  Eleven of the 13 patients had vestibular symptoms. The age of onset of vestibular symptoms was significantly later than the ages of onset of hearing loss and diabetes mellitus (P < .05). Ten of the 13 patients showed abnormal caloric responses, whereas 12 patients showed abnormal ACS-VEMPs on one or both sides. All of the seven patients who underwent galvanic-VEMP testing showed normal responses.
  
  
  CONCLUSIONS
  The A3243G mutation is associated with vestibular dysfunction involving both the superior and inferior vestibular nerve systems. Furthermore, our results from galvanic-VEMP testing suggests that a labyrinthine lesion is primarily responsible for the symptoms of vestibular dysfunction.
authors.affiliation: Department of Otolaryngology, Faculty of Medicine, University of Tokyo, Tokyo, Japan. iwashin-tky@umin.ac.jp
authors.forename: Shinichi
authors.initials: S
authors.lastname: Iwasaki
authors.forename: Naoya
authors.initials: N
authors.lastname: Egami
authors.forename: Chisato
authors.initials: C
authors.lastname: Fujimoto
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Chihara
authors.forename: Munetaka
authors.initials: M
authors.lastname: Ushio
authors.forename: Akinori
authors.initials: A
authors.lastname: Kashio
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yamasoba
mesh_terms: D000161:Acoustic Stimulation; D000328:Adult; D001309:Auditory Threshold; D018780:Body Surface Potential Mapping; D002150:Caloric Tests; D003051:Cochlea / Q000503:physiopathology*; D004272:DNA, Mitochondrial / Q000235:genetics*; D048909:Diabetes Complications; D004576:Electromyography; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation; D015837:Vestibular Diseases / Q000235:genetics* / Q000503:physiopathology*; D058585:Vestibular Evoked Myogenic Potentials; D014724:Vestibular Function Tests
chemical_list: D004272:DNA, Mitochondrial