Leigh syndrome (subacute necrotizing encephalomyelopathy) is a severe neurological disorder that generally presents in infancy or early childhood, although it can appear during late childhood and even adulthood. It is characterized by developmental delay or psychomotor regression, ataxia, dystonia, external ophthalmoplegia, seizures, vomiting and weakness. The phenotype of Leigh syndrome is caused by alterations of mitochondrial metabolism from a variety of mechanisms including pyruvate dehydrogenase complex and respiratory chain dysfunction due to either nuclear or mitochondrial DNA mutations. This, in turn, results in brain lesions and damage of myelin sheaths coating the nerves. Leigh syndrome can have different inheritance patterns but it is most commonly inherited in an autosomal recessive pattern.
The Igenomix Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
Finsterer, J. (2008). Leigh and Leigh-Like Syndrome in Children and Adults. Pediatric Neurology, 39(4), 223-235. doi: 10.1016/j.pediatrneurol.2008.07.013
Rahman, S., Blok, R., Dahl, H., Danks, D., Kirby, D., & Chow, C. et al. (1996). Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Annals Of Neurology, 39(3), 343-351. doi: 10.1002/ana.410390311
Lee, H., Tsai, C., Chi, C., Lee, H., & Chen, C. (2009). Leigh Syndrome: Clinical and Neuroimaging Follow-Up. Pediatric Neurology, 40(2), 88-93. doi: 10.1016/j.pediatrneurol.2008.09.020
Lake, N., Compton, A., Rahman, S., & Thorburn, D. (2015). Leigh syndrome: One disorder, more than 75 monogenic causes. Annals Of Neurology, 79(2), 190-203. doi: 10.1002/ana.24551
Baertling, F., Rodenburg, R. J., Schaper, J., Smeitink, J. A., Koopman, W. J., Mayatepek, E., Morava, E., & Distelmaier, F. (2014). A guide to diagnosis and treatment of Leigh syndrome. Journal of neurology, neurosurgery, and psychiatry, 85(3), 257–265. https://doi.org/10.1136/jnnp-2012-304426
Lake, N. J., Bird, M. J., Isohanni, P., & Paetau, A. (2015). Leigh syndrome: neuropathology and pathogenesis. Journal of neuropathology and experimental neurology, 74(6), 482–492. https://doi.org/10.1097/NEN.0000000000000195
Chen, L., Cui, Y., Jiang, D., Ma, C. Y., Tse, H. F., Hwu, W. L., & Lian, Q. (2018). Management of Leigh syndrome: Current status and new insights. Clinical genetics, 93(6), 1131–1140. https://doi.org/10.1111/cge.13139
