Supranuclear Eye Movement Dysfunction in Mitochondrial Myopathy with tRNA Mutation

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Title Journal of Neuro-Ophthalmology, March 1995, Volume 15, Issue 1
Date 1995-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6v4419m
Setname ehsl_novel_jno
ID 224628
Reference URL https://collections.lib.utah.edu/ark:/87278/s6v4419m

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Title Supranuclear Eye Movement Dysfunction in Mitochondrial Myopathy with tRNA Mutation
Creator Gupta, SR; Brigell, M; Gujrati, M; Lee, JM
Affiliation Department of Neurology, VA Hines Hospital, IL 60141, USA.
Abstract A patient with multiple neurological deficits and biopsy-proven mitochondrial myopathy with mutation of tRNA(LEU) at nucleotide 3243 was referred for eye movement evaluation. He had restricted range of voluntary motions in all directions and full range of eye movements on passive rotation of head while fixating a visual target. Eye movement recordings revealed decreased horizontal and vertical saccadic velocities and markedly decreased smooth pursuit gain in both directions. The vestibulo-ocular reflex showed gain abnormalities with many saccadic intrusions on the smooth reflex response. His brother, with similar mutation, was clinically asymptomatic. However, his eye movement recordings revealed slow horizontal saccadic velocities leftward and normal saccadic velocities rightward in both eyes as well as in upward and downward direction. Smooth pursuit and vestibulo-ocular reflexes were within normal limits. Although eye movement abnormalities are seen commonly in mitochondrial myopathies, the exact mechanism is not known. Our cases suggest supranuclear dysfunction as one of the mechanisms for ophthalmoparesis.
Subject Biopsy; Electrooculography; Eye Movements; Humans; Male; Middle Older people; Mitochondria, Muscle/ultrastructure; Mitochondrial Myopathies/complications; Mitochondrial Myopathies/genetics; Mitochondrial Myopathies/pathology; Ocular Motility Disorders/etiology; Ocular Motility Disorders/pathology; Ocular Motility Disorders/physiopathology; Point Mutation; RNA, Transfer, Leu/genetics; Reflex, Vestibulo-Ocular/physiology; Saccades/physiology; Supranuclear Palsy, Progressive/etiology; Supranuclear Palsy, Progressive/pathology; Supranuclear Palsy, Progressive/physiopathology; Sural Nerve/pathology
OCR Text Show
Format application/pdf
Publication Type Journal Article
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
Setname ehsl_novel_jno
ID 224618
Reference URL https://collections.lib.utah.edu/ark:/87278/s6v4419m/224618
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