Mitochondrial Diseases
- 1st Edition, Volume 194 - July 12, 2023
- Latest edition
- Editors: Rita Horvath, Michio Hirano, Patrick F. Chinnery
- Language: English
Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, geneti… Read more
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.
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
Clinical neurologists, researchers in neurology
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
- Edition: 1
- Latest edition
- Volume: 194
- Published: July 12, 2023
- Language: English
RH
Rita Horvath
Rita Horvath works in the Department of Clinical Neurosciences at the University of Cambridge, John van Geest Centre for Brain Repair, Cambridge, United Kingdom
Affiliations and expertise
Department of Clinical Neurosciences, University of Cambridge, John van Geest Centre for Brain Repair, Cambridge, UKMH
Michio Hirano
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.
Affiliations and expertise
Columbia University Irving Medical Center, H. Houston Merritt Neuromuscular Research Center, Division of Neuromuscular Medicine, Department of Neurology, New York, NY, USAPC
Patrick F. Chinnery
Patrick Francis Chinnery works at the MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.
Affiliations and expertise
MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UKRead Mitochondrial Diseases on ScienceDirect