Full 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.
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
