Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within.
This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.
1. Section I: Introduction to mitochondrial diseases - p. iii 2. Chapter 1: Mitochondrial disease in neurology—Past, present, and future - p. 3 3. Section II: Most common neurological manifestations of mitochondrial disease - p. 6 4. Chapter 2: Progressive external ophthalmoplegia - p. 9 5. Chapter 3: Mitochondrial optic neuropathies - p. 31 6. Chapter 4: Leigh syndrome - p. 46 7. Chapter 5: Stroke-like episodes in adult mitochondrial disease - p. 65 8. Chapter 6: Ataxia and spastic paraplegia in mitochondrial disease - p. 81 9. Chapter 7: Peripheral neuropathy in mitochondrial disease - p. 99 10. Chapter 8: Complex neurological and multisystem presentations in mitochondrial disease - p. 117 11. Section III: Diagnosing mitochondrial disease - p. 124 12. Chapter 9: Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease - p. 127 13. Chapter 10: Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis - p. 141 14. Chapter 11: Laboratory and metabolic investigations - p. 167 15. Chapter 12: Neuroimaging in mitochondrial disease - p. 173 16. Section IV: Therapy and future challenges - p. 185 17. Chapter 13: Currently available therapies in mitochondrial disease - p. 189 18. Chapter 14: Reproductive options in mitochondrial disease - p. 207 19. Chapter 15: Clinical trials in mitochondrial diseases - p. 231 20. Chapter 16: Blood biomarkers of mitochondrial disease—One for all or all for one? - p. 251 21. Chapter 17: Experimental therapy for mitochondrial diseases - p. 259 22. Index - p. 277
Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within.
This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.
1. Section I: Introduction to mitochondrial diseases - p. iii 2. Chapter 1: Mitochondrial disease in neurology—Past, present, and future - p. 3 3. Section II: Most common neurological manifestations of mitochondrial disease - p. 6 4. Chapter 2: Progressive external ophthalmoplegia - p. 9 5. Chapter 3: Mitochondrial optic neuropathies - p. 31 6. Chapter 4: Leigh syndrome - p. 46 7. Chapter 5: Stroke-like episodes in adult mitochondrial disease - p. 65 8. Chapter 6: Ataxia and spastic paraplegia in mitochondrial disease - p. 81 9. Chapter 7: Peripheral neuropathy in mitochondrial disease - p. 99 10. Chapter 8: Complex neurological and multisystem presentations in mitochondrial disease - p. 117 11. Section III: Diagnosing mitochondrial disease - p. 124 12. Chapter 9: Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease - p. 127 13. Chapter 10: Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis - p. 141 14. Chapter 11: Laboratory and metabolic investigations - p. 167 15. Chapter 12: Neuroimaging in mitochondrial disease - p. 173 16. Section IV: Therapy and future challenges - p. 185 17. Chapter 13: Currently available therapies in mitochondrial disease - p. 189 18. Chapter 14: Reproductive options in mitochondrial disease - p. 207 19. Chapter 15: Clinical trials in mitochondrial diseases - p. 231 20. Chapter 16: Blood biomarkers of mitochondrial disease—One for all or all for one? - p. 251 21. Chapter 17: Experimental therapy for mitochondrial diseases - p. 259 22. Index - p. 277
