Mitochondrial Diseases / editors, Rita Horvath, Michio Hirano, and Patrick F. Chinnery.

Format:

Book

Contributor:

Horvath, Rita, MD, editor.

Hirano, Michio, editor.

Chinnery, Patrick F., editor.

Series:

Handbook of clinical neurology ; Volume 194.

Handbook of Clinical Neurology ; Volume 194

Language:

English

Subjects (All):

Mitochondrial pathology.

Mitochondrial Diseases.

Medical Subjects:

Mitochondrial Diseases.

Physical Description:

1 online resource (304 pages)

Place of Publication:

Amsterdam, Netherlands : Elsevier B.V., [2023]

Summary:

Mitochondrial Diseases 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.

Notes:

Description based on print version record.

Includes bibliographical references and index.

Other Format:

Print version: Horvath, Rita Mitochondrial Diseases

ISBN:

0-12-821761-8