title: Eye movement and vestibular dysfunction in mitochondrial A3243G mutation.
abstract: Studying eye movements and vestibular function would provide insights into brain networks that are vulnerable in mitochondrial disorders. We sought eye movement and vestibular abnormalities in three Korean patients with a mitochondrial A3243G point mutation. The patients suffered from vertigo and imbalance during the stroke-like and seizure episodes from lesions involving the posterior cerebral cortex, which were accompanied by bilateral saccadic hypermetria and horizontal gaze-evoked nystagmus. Furthermore, two patients showed bilateral impairments of the vestibulo-ocular reflex during head impulses for the horizontal and posterior canals on both sides in the absence of caloric paresis. Cerebellar atrophy was prominent on MRIs in two patients and was less marked in the other patient. These findings imply that the cerebellum is susceptible to neuronal energy deficiency due to mitochondrial A3243G point mutation.
authors.affiliation: Department of Neurology, Kyoungpook National University School of Medicine, Daegu, Korea.
authors.forename: Sung-Hee
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Nervous diseases, Tashkent Medical Academy, Tashkent, Uzbekistan.
authors.forename: Ziyoda Abdulkhaevna
authors.initials: ZA
authors.lastname: Akbarkhodjaeva
authors.affiliation: Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seoul, Korea.|Department of Neurology, Korea University College of Medicine, Korea University Ansan Hospital, Ansan, Korea.
authors.forename: Ileok
authors.initials: I
authors.lastname: Jung
authors.affiliation: Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seoul, Korea. jisookim@snu.ac.kr.
authors.forename: Ji-Soo
authors.initials: JS
authors.lastname: Kim
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000503:physiopathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D015837:Vestibular Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D014724:Vestibular Function Tests; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial
keywords: Cerebellum; Head impulse test; Mitochondria; Vestibular function test