Abstract
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac’s syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.
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Acknowledgments
This work was supported in part by grants from the Italian Ministry of Health (Ricerca Corrente e Finalizzata), MIUR-PRIN “Molecular mechanisms, physiology and pathology of membrane bioenergetics system ”, Project No. 2005052128_001 and Research Foundation Cassa di Risparmio di Puglia.
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S. Zoccolella and V. Petruzzella equally contributed to the paper.
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Zoccolella, S., Petruzzella, V., Prascina, F. et al. Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome. J Neurol 257, 1999–2003 (2010). https://doi.org/10.1007/s00415-010-5649-6
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DOI: https://doi.org/10.1007/s00415-010-5649-6