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Laryngoscope. 2011 Aug;121(8):1821-4. doi: 10.1002/lary.21879.

The mitochondrial A3243G mutation involves the peripheral vestibule as well as the cochlea.

Author information

1
Department of Otolaryngology, Faculty of Medicine, University of Tokyo, Tokyo, Japan. iwashin-tky@umin.ac.jp

Abstract

OBJECTIVES/HYPOTHESIS:

To evaluate vestibular function in patients with the mitochondrial A3243G mutation.

STUDY DESIGN:

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.

PMID:
21792976
DOI:
10.1002/lary.21879
[Indexed for MEDLINE]

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