Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

doi:10.1093/brain/awae057

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Article

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Brain : a journal of neurology - 3 Jun 2024

Blickhäuser Beryll, Stenton Sarah L, Neuhofer Christiane M, Floride Elisa, Nesbitt Victoria, Fratter Carl, Koch Johannes, Kauffmann Birgit, Catarino Claudia, Schlieben Lea Dewi, Kopajtich Robert, Carelli Valerio, Sadun Alfredo A, McFarland Robert, Fang Fang, La Morgia Chiara, Paquay Stéphanie, Nassogne Marie Cécile, Ghezzi Daniele, Lamperti Costanza, Wortmann Saskia, Poulton Jo, Klopstock Thomas, Prokisch Holger

Abstract excerpt

Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a subacute necrotizing encephalomyelopathy and characterized by bilateral basal ganglia and/or brainstem lesions. LSS is associated with variants in several mitochondrial DNA genes and more than 100 nuclear genes, most often related to mitochondrial complex I (CI) dysfunction. Rarely, LSS has been reported in...

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PMID: 38478578
DOI: 10.1093/brain/awae057
PMCID: PMC11146415

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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