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NEUROLOGY 1994;44:843
© 1994 American Academy of Neurology

Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba

M. Hirano, MD, J. M. Cleary, A. M. Stewart, BA, N. S. Lincoff, MD, J. G. Odel, MD, R. Santiesteban, MD and R. Santiago Luis, MD

Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders (Dr. Hirano, J.M. Cleary, and A.M. Stewart)
Department of Ophthalmology, Columbia University College of Physicians and Surgeons, New York, NY (Dr. Odel)
Department of Neurology (Dr. Lincoff), the State University of New York at Buffalo, Buffalo, NY
Department of Neurology (Drs. Santiesteban and Santiago Luis), Instituto de Neurologia y Neurocirugia, Havana, Cuba.

Article abstract–Since October 1991, nearly 51,000 Cubans have been afflicted in an outbreak of optic and peripheral neuropathies. To begin an investigation of the possible role of mitochondrial DNA (mtDNA) mutations in the outbreak, we studied mtDNA from 14 affected and two unaffected Cubans for the 12 mutations associated with Leber's hereditary optic neuropathy. Eleven probands (12 patients) had optic neuropathy and two had peripheral neuropathy only. We also studied two unaffected relatives of one proband. We identified two mtDNA mutations, at nucleotides 11778 and 3460, in two of the 11 probands with optic neuropathy. Although this data set is too small to reach statistically valid conclusions, it does suggest that mtDNA mutations might be contributing to the outbreak of optic neuropathy in Cuba.

Address correspondence and reprint requests to Dr. M. Hirano, Department of Neurology, Columbia University College of Physicians and Surgeons, P & S 4-431,630 West 168th Street, New York, NY 10032.

Dr. Hirano was supported by National Institutes of Health Clinical Investigator Development Award 1KO8NS01617-01. This work was also supported by the Muscular Dystrophy Association, Tucson, AZ; the Charles A. Dana Foundation, New York, NY; and a donation from Libero and Graziella Danesi, Milan, Italy.

Received October 21, 1993. Accepted for publication in final form October 28, 1993.






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