Mitochondrial Diseases

Rita Horvath works in the Department of Clinical Neurosciences at the University of Cambridge, John van Geest Centre for Brain Repair, Cambridge, United Kingdom Michio Hirano is the Lucy G. Moses Professor, Director of the H. Houston Merritt Neuromuscular Research Center, and Chief of the Division of Neuromuscular Medicine in the Department of Neurology at the Columbia University Irving Medical Center, New York, NY, United States. Patrick Francis Chinnery works at the MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Section I. Introduction to Mitochondrial Diseases 1. Mitochondrial disease in neurology – Past, present, and future

Section II. Most Common Neurological Manifestations of Mitochondrial Disease 2. Progressive external ophthalmoplegia 3. Mitochondrial optic neuropathies 4. Leigh syndrome 5. Stroke-like episodes in adult mitochondrial disease 6. Ataxia and spastic paraplegia in mitochondrial disease 7. Peripheral neuropathy in mitochondrial disease 8. Complex neurological and multisystem presentations in mitochondrial disease

Section III. Diagnosing Mitochondrial Disease 9. Investigation of oxidative phosphorylation activity and composition in mitochondrial disease 10. Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis 11. Laboratory and metabolic investigations 12. Neuroimaging in mitochondrial disease

Section IV. Therapy and Future Challenges 13. Currently available therapies in mitochondrial disease 14. Reproductive options in mitochondrial disease 15. Clinical trials in mitochondrial disease 16. Blood biomarkers of mitochondrial disease – One for all or all for one? 17. Experimental therapy for mitochondrial diseases