Browse > Article
http://dx.doi.org/10.14253/acn.2022.24.2.107

Adult-onset Leigh syndrome due to m.9176T>C mutation with cortical involvement  

Lee, Hyuk-je (Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
Lee, Myungah (Department of Neurology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
Lee, Jung Hwan (Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
Publication Information
Annals of Clinical Neurophysiology / v.24, no.2, 2022 , pp. 107-110 More about this Journal
Abstract
We describe the case of a 22-year-old female complaining of ophthalmoplegia, which deteriorated with seizure. Leigh syndrome (LS) was diagnosed by identifying the m.9176T>C mutation. She improved with vitamin cocktail therapy plus intravenous methylprednisolone, and had an excellent prognosis. This was the first case of an adult patient with LS presenting with the m.9176T>C mutation and reporting cortical symptoms, which in this case comprised cortical vision loss, and cortical, basal ganglia, and brainstem signal changes on magnetic resonance imaging.
Keywords
Leigh disease; Mitochondrial diseases; MELAS syndrome;
Citations & Related Records
연도 인용수 순위
  • Reference
1 McKelvie P, Infeld B, Marotta R, Chin J, Thorburn D, Collins S. Lateadult onset Leigh syndrome. J Clin Neurosci 2012;19:195-202.   DOI
2 Ichikawa K, Tsuyusaki Y, Shimbo H, Goto T. Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene. Pediatr Int 2019;61:1055-1056.   DOI
3 Wei Y, Cui L, Peng B. Mitochondrial DNA mutations in late-onset Leigh syndrome. J Neurol 2018;265:2388-2395.   DOI
4 Sage-Schwaede A, Engelstad K, Salazar R, Curcio A, Khandji A, Garvin JH Jr, et al. Exploring mTOR inhibition as treatment for mitochondrial disease. Ann Clin Transl Neurol 2019;6:1877-1881.   DOI
5 Chuquilin M, Govindarajan R, Peck D, Font-Montgomery E. Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. Mol Genet Metab Rep 2016;8:28-32.   DOI
6 Hanaford A, Johnson SC. The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence. Orphanet J Rare Dis 2022;17:335.   DOI
7 Campos Y, Martin MA, Rubio JC, Solana LG, Garcia-Benayas C, Terradas JL, et al. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 1997;49:595-597.   DOI
8 Makino M, Horai S, Goto Y, Nonaka I. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord 1998;8:149-151.   DOI
9 Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, et al. Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation. Biochem Biophys Res Commun 2011;412:245-248.   DOI
10 Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol 2016;79:190-203.   DOI
11 Barcelos I, Shadiack E, Ganetzky RD, Falk MJ. Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines. Curr Opin Pediatr 2020;32:707-718.   DOI
12 Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-351.   DOI