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Brain, Vol. 115, No. 4, 979-989, 1992
© 1992 Guarantors of Brain

research-article

OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION

A. E. HARDING1, M. G. SWEENEY1, D. H. MILLER1, C. J. MUMFORD2, H. KELLAR-WOOD2, D. MENARD3, W. I. MCDONALD1 and D. A. S. COMPSTON2

1University Department of Clinical Neurology, Institute of Neurology London 2University of Cambridge Neurology Unit, Addenbrooke's Hospital Cambridge, UK 3Centre Hospitalier Regional et Universitaire de Rennes France

Correspondence to: Correspondence to Professor A E Harding, University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WCIN 3BG, UK

Eight women are described who presented with bilateral, usually sequential, optic neuropathy, six of whom later developed a neurological syndrome indistinguishable from multiple sclerosis (MS) Magnetic resonance imaging, performed in five of the patients with an MS-like illness and in the two others with optic neuropathy alone, showed widespread white matter lesions as seen in MS All of these women had matrilineal relatives with Leber's hereditary optic neuropathy, although this was not always apparent at presentation, and the most common mitochondrial DNA mutation associated with this disorder was detected in each of the women and their affected relatives On the basis of observations made in these patients, the clinical features of Leber's hereditary optic neuropathy in males, and evidence for mitochondrially encoded peptides involved in the immune response in rodents, we propose that optic nerve damage in this disease could be immunologically mediated and that mitochondrial genes may contribute to susceptibility to MS.

Received January 3, 1992. Revised April 22, 1992. Accepted April 22, 1992.


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