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

• Published in: Brain (London, England : 1878) Vol. 147; no. 6; pp. 1967 - 1974
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: UK Oxford University Press 03.06.2024
• Subjects: Adolescent; Adult; Child; Child, Preschool; DNA, Mitochondrial - genetics; Electron Transport Complex I - genetics; Exome Sequencing; Female; Humans; Leigh Disease - genetics; Male; Mutation; NADH Dehydrogenase - genetics; Optic Atrophy, Hereditary, Leber - genetics; Young Adult; Leigh syndrome spectrum (LSS); digenic inheritance; Leber hereditary optic neuropathy (LHON); mitochondrial complex I (CI)

Abstract 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...