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Neurology 2003;60:717-719
© 2003 American Academy of Neurology
Brief Communications

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

L. M. Cupini, MD, R. Massa, MD, R. Floris, MD, G. Manenti, MD, B. Martini, BS, A. Tessa, PhD, G. Nappi, MD, G. Bernardi, MD and F. M. Santorelli, MD

From Clinica Neurologica (Drs. Cupini, Massa, and Bernardi) and Istituto di Radiologia (Drs. Floris and Manenti), Ospedale S. Eugenio, Università di Roma Tor Vergata; Laboratorio di Neurogenetica Molecolare (B. Martini, and Drs. Nappi and Santorelli), IRCCS–C. Mondino Centro di Neurobiologia, Sperimentale Mondino–Tor Vergata–S. Lucia; Medicina Molecolare (Drs. Tessa and Santorelli), IRCCS–Ospedale "Bambino Gesù"; IRCCS–"S. Lucia" (Drs. Massa, Floris, and Bernardi); and Dipartimento di Neurologia (Drs. Nappi and Santorelli), ORL e Riabilitazione Motoria e Sensoriale, Università di Roma La Sapienza, Rome, Italy.

Address correspondence and reprint requests to Dr. L.M. Cupini, Clinica Neurologica, Università di Roma "Tor Vergata," Ospedale S. Eugenio, P.le Umanesimo 10, 00144 Rome, Italy; e-mail: lecupini{at}tin.it

The authors report neurologic features in a large family harboring the mitochondrial DNA (mtDNA) mutation T14484C associated with Leber hereditary optic neuropathy (LHON). In the maternal line the mtDNA mutation was associated with optic neuropathy or migraine with aura or without aura and transient neurologic/visual disturbances. The segregation of familiar cases of migraine and LHON mutation broadens the clinical phenotype associated with a primary LHON mutation.




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