Síndrome de Leigh de inicio adulto, con epilepsia mioclónica progresiva, asociado a la mutación m.14487T>C: reporte de caso

Neurologia Argentina - Tập 15 - Trang 56-60 - 2023
Darwin Segura-Chávez1, Luis Torres-Ramírez2, Sonia Emperador-Ortiz3,4,5, Miriam Vélez-Rojas2, Martha Flores-Mendoza2, Carlos Cosentino-Esquerre2, Eduardo Ruiz-Pesini3,4,5, Julio Montoya-Villarroya3,4,5
1Departamento de Neurofisiología clínica, Unidad de Investigación en enfermedades Neuromusculares, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
2Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
3Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, España
4CIBER de Enfermedades Raras (CIBERER), Madrid, España
5Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Zaragoza, España

Tài liệu tham khảo

Baertling, 2014, A guide to diagnosis and treatment of Leigh Síndrome, J Neurol Neurosurg Psychiatry., 85, 257, 10.1136/jnnp-2012-304426 Thorburn, 2003, Mitochondrial DNA-Associated Leigh Syndrome and NARP McKelvie, 2012, Late-adult onset Leigh syndrome, J Clin Neurosci., 19, 195, 10.1016/j.jocn.2011.09.009 Sofou, 2014, A multicenter study on Leigh syndrome: disease course and predictors of survival, Orphanet J Rare Dis., 9, 52, 10.1186/1750-1172-9-52 Wang, 2008, Two mtDNA mutations 14487T>C (M63V ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family, Mol Genet Metab., 96, 59, 10.1016/j.ymgme.2008.10.006 Gonzalo, 2005, Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA, FEBS Lett., 579, 6909, 10.1016/j.febslet.2005.11.034 Dermaut, 2010, Progressive myoclonic epilepsy as an adult onset manifestation of Leigh syndrome due to m.14487T>C, J Neurol Neurosurg Psychiatry., 81, 90, 10.1136/jnnp.2008.157354 Raspall-Chaure, 2004, Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial, Rev Neurol., 39, 1129 Leshinsky-Silver, 2011, Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence, J Child Neurol., 26, 476, 10.1177/0883073810384615 Navarro-Otano, 2013, Chewing-induced segmental myoclonus in a patient with Leigh syndrome, Mov Disord., 28, 1756, 10.1002/mds.25516