Mitochondrial Diseases

Inbunden, Engelska, 2023

Del 194 i serien Handbook of Clinical Neurology

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Beskrivning

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

Produktinformation

Utgivningsdatum:2023-07-12
Mått:195 x 260 x 22 mm
Vikt:884 g
Format:Inbunden
Språk:Engelska
Serie:Handbook of Clinical Neurology
Antal sidor:302
Förlag:Elsevier Science
ISBN:9780128217511

Utforska kategorier

Fysiologi inom Medicin
Medicinsk utrustning och medicinska tekniker inom Medicin
Endokrinologi inom Medicin

Mer om författaren

Rita Horvath works in the Department of Clinical Neurosciences at the University of Cambridge, John van Geest Centre for Brain Repair, Cambridge, United Kingdom 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. Patrick Francis Chinnery works at the MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Innehållsförteckning

Section I. Introduction to Mitochondrial Diseases 1. Mitochondrial disease in neurology – Past, present, and futureSection II. Most Common Neurological Manifestations of Mitochondrial Disease2. Progressive external ophthalmoplegia3. Mitochondrial optic neuropathies4. Leigh syndrome5. Stroke-like episodes in adult mitochondrial disease6. Ataxia and spastic paraplegia in mitochondrial disease7. Peripheral neuropathy in mitochondrial disease8. Complex neurological and multisystem presentations in mitochondrial diseaseSection III. Diagnosing Mitochondrial Disease9. Investigation of oxidative phosphorylation activity and composition in mitochondrial disease10. Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis11. Laboratory and metabolic investigations12. Neuroimaging in mitochondrial diseaseSection IV. Therapy and Future Challenges13. Currently available therapies in mitochondrial disease14. Reproductive options in mitochondrial disease15. Clinical trials in mitochondrial disease16. Blood biomarkers of mitochondrial disease – One for all or all for one?17. Experimental therapy for mitochondrial diseases