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

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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.

TYT Extended Clip - April 22th, 2020