Description
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.
- Examines the pathophysiology of mitochondrial diseases and disorders
- Focuses on neurological symptoms of mitochondrial diseases
- Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more
- Covers histology, metabolism, genetic, and neuroimaging diagnostics
- Summarizes both available and emerging therapies
- Includes clinical trials, the use of biomarkers and reproductive options
Table of Contents
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
