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01-03-2013 | Letter to the Editor

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

Authors: Enrico Saracchi, J. C. DiFrancesco, L. Brighina, L. Marzorati, N. A. Curtò, C. Lamperti, F. Carrara, M. Zeviani, C. Ferrarese

Published in: Neurological Sciences | Issue 3/2013

Excerpt

Leber hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by subacute, painless and symmetric visual loss, which usually develops during young adult life. Males are four to five times more likely than females to be affected. Mutations in the mitochondrial genes that encode subunits of NADH dehydrogenase (ND genes) are known to be associated with LHON. Three major mtDNA point mutations (G3460A in ND1, G11778A in ND4, T14484C in ND6) are responsible for more than 90 % of LHON cases, while only 5–10 % of patients harbor different uncommon pathogenic mutations. …

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Title: A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation
Authors: Enrico Saracchi
J. C. DiFrancesco
L. Brighina
L. Marzorati
N. A. Curtò
C. Lamperti
F. Carrara
M. Zeviani
C. Ferrarese
Publication date: 01-03-2013
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 3/2013
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-012-1013-1

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A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

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