Neurological Sciences

, Volume 37, Issue 7, pp 1159–1162 | Cite as

Eye movement and vestibular dysfunction in mitochondrial A3243G mutation

  • Sung-Hee Kim
  • Ziyoda Abdulkhaevna Akbarkhodjaeva
  • Ileok Jung
  • Ji-Soo Kim
Brief Communication


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.


Mitochondria Head impulse test Cerebellum Vestibular function test 



S.-H. K. and Z. A. A., as the first author, contributed to analysis and interpretation of the data and drafting of the manuscript. I. J. contributed to collection and interpretation of the data. J.-S. K., as the corresponding author, contributed to design of the study, interpretation of the data, and critical revision of the manuscript.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

10072_2016_2577_MOESM1_ESM.docx (62 kb)
Supplementary material 1 (DOCX 61 kb)


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Copyright information

© Springer-Verlag Italia 2016

Authors and Affiliations

  • Sung-Hee Kim
    • 1
  • Ziyoda Abdulkhaevna Akbarkhodjaeva
    • 2
  • Ileok Jung
    • 3
    • 4
  • Ji-Soo Kim
    • 3
  1. 1.Department of NeurologyKyoungpook National University School of MedicineDaeguKorea
  2. 2.Department of Nervous diseasesTashkent Medical AcademyTashkentUzbekistan
  3. 3.Department of Neurology, Seoul National University College of MedicineSeoul National University Bundang HospitalSeoulKorea
  4. 4.Department of Neurology, Korea University College of MedicineKorea University Ansan HospitalAnsanKorea

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