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Giant Axonal Neuropathy: Visual and Oculomotor Deficits

Published online by Cambridge University Press:  18 September 2015

T.H. Kirkham ,
D. Guitton  and
S.G. Coupland
T.H. Kirkham*
Affiliation:
McGill University Departments of Neurology, Neurosurgery and Ophthalmology and the Montreal Neurological Hospital and Institute, Montreal, Québec, Canada
D. Guitton
Affiliation:
McGill University Departments of Neurology, Neurosurgery and Ophthalmology and the Montreal Neurological Hospital and Institute, Montreal, Québec, Canada
S.G. Coupland
Affiliation:
McGill University Departments of Neurology, Neurosurgery and Ophthalmology and the Montreal Neurological Hospital and Institute, Montreal, Québec, Canada
*
Montreal Neurological Hospital, Neuro-Ophthalmology Dept., Room 201, 3801 University St., Montreal, Québec, Canada H3A 2B4
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Giant axonal neuropathy, a generalised disorder or neurofilaments, presents as a chronic, progressive peripheral neuropathy in childhood. Evidence for central nervous system involvement is demonstrated in this study of four male patients with giant axonal neuropathy who had defective visual function and abnormal ocular motility. The visual system was studied by electroretinography, which showed normal retinal function, and by visual evoked potentials, which showed disease of both optic nerves and retrochiasmal visual pathways. The ocular motility disorder, studied by electrooculography, comprised defective pursuit, inability to maintain eccentric gaze with gaze paretic and rebound nystagmus, abnormal optokinetic responses and failure of suppression of the vestibulo-ocular reflex by fixation. These findings suggested involvement by giant axonal neuropathy of the cerebellar and brain stem pathways important in the control of ocular motility.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 7 , Issue 3 , August 1980 , pp. 177 - 184
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

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