A review of the selected mitochondrial diseases that affect the nervous system, with Drs. Aaron Bower and Jeremy Moeller.
Note: This podcast is intended solely as an educational tool for learners, especially neurology residents. The contents should not be interpreted as medical advice.
References
1. Davis RL, Liang C, Sue CM. Mitochondrial diseases. Handb Clin Neurol 2018;147:125-141.
2. Ng YS, Bindoff LA, Gorman GS, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol 2021;20:573-584.
3. Orsucci D, Caldarazzo Ienco E, Rossi A, Siciliano G, Mancuso M. Mitochondrial Syndromes Revisited. J Clin Med 2021;10.
4. Buajitti E, Rosella LC, Zabzuni E, Young LT, Andreazza AC. Prevalence and health care costs of mitochondrial disease in Ontario, Canada: A population-based cohort study. PLoS One 2022;17:e0265744.
5. Tetsuka S, Ogawa T, Hashimoto R, Kato H. Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS. Metab Brain Dis 2021;36:2181-2193.
6. Shemesh A, Margolin E. Kearns Sayre Syndrome. StatPearls. Treasure Island FL: © 2022, StatPearls Publishing LLC., 2022.
7. Davila-Siliezar P, Carter M, Milea D, Lee AG. Leber hereditary optic neuropathy: new and emerging therapies. Curr Opin Ophthalmol 2022;33:574-578.
8. Shemesh A, Sood G, Margolin E. Leber Hereditary Optic Neuropathy (LHON). StatPearls. Treasure Island FL: © 2022, StatPearls Publishing LLC., 2022.
9. Velez-Bartolomei F, Lee C, Enns G. MERRF. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews(®). Seattle WA: © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle, 1993.
10. Hameed S, Tadi P. Myoclonic Epilepsy and Ragged Red Fibers. StatPearls. Treasure Island FL: © 2022, StatPearls Publishing LLC., 2022.
11. Hirano M, Carelli V, De Giorgio R, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. J Inherit Metab Dis 2021;44:376-387.
12. Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol 2019;15:40-52.