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Mitochondrial Diseases

  • 1st Edition, Volume 194 - February 20, 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

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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.

Key features

  • 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

Readership

Clinical neurologists, researchers in neurology

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

Product details

  • Edition: 1
  • Latest edition
  • Volume: 194
  • Published: July 12, 2023
  • Language: English

About the editors

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, UK

MH

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, USA

PC

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, UK

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