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Mitochondrial Diseases
Presents the latest information on the diagnosis and treatment of mitochondrial disorders and diseases
Rita Horvath (Volume editor), Michio Hirano (Volume editor), Patrick F. Chinnery (Volume editor)
9780128217511
Hardback, published 12 July 2023
302 pages
26.2 x 19.2 x 2.3 cm, 0.666 kg
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.
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
Subject Areas: Neurosciences [PSAN], Pathology [MMF], Neurology & clinical neurophysiology [MJN], Endocrinology [MJG], Medical research [MBGR]
