Diagnosis and Management of Mitochondrial Disorders

1. Auflage 2019
ISBN: 978-3-030-05516-5
Verlag: Springer International Publishing

Buch, Englisch, 382 Seiten, Format (B × H): 183 mm x 260 mm, Gewicht: 1021 g

This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Klopstock, Thomas

Mancuso, Michelangelo

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Neurologie, Klinische Neurowissenschaft
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Innere Medizin
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Medizinische Diagnose und Diagnostik

Inhaltsverzeichnis

Mitochondrial Medicine: an Historical Point of View,- Mitochondrial Biology and Function.- Mitochondrial Genetics.- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome).- Myoclonic Epilepsy with Ragged Red Fibers (MERRF Syndrome).- Leber Hereditary Optic Neuropathy (LHON).- Progressive External Ophthalmoplegia (PEO).- Leigh Syndrome.- Mitochondrial Depletion Syndromes.- Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE).- Mitochondrial Neurodegenerative Disorders I: Dementia and Parkinsonisms.- Mitochondrial Neurodegenerative Disorders II: Ataxia & Dystonia, Leukidystrophies.- Mitochondria & Heart.- Mitochondria & Liver.- Mitochondria & Respiratory Involvement.- Mitochondrial Endocrinology.- Diagnostic Approach to Mitochondrial Disease.- Mitochondrial Replacement Approaches.- Exercise/Training.- Mitochondrial Symptomatic Treatments.- Experimental Therapies.

Über Autor(innen)

Dr. Mancuso is the head of the Centre of Clinical Neurogenetics  responsible for mitochondrial diseases and rare diseases at the Neurological Institute  of University of Pisa, Italy (Orphanet Center EUGTIT247621). He is actively involved in multiple projects mainly focusing on mitochondrial diseases. Dr. Mancuso is the Coordinator of the Italian Network of Mitochondrial Diseases, and is also a member of the International Consortium of Mitochondrial Diseases.

Dr. Klopstock is a Professor of Neurology and Consultant Physician, Friedrich-Baur-Institute, Dept. of Neurology, LMU Munich, Germany. He has extensive clinical and scientific expertise in mitochondrial and other neurogenetic disorders. He currently manages an outpatient clinic for neurogenetics, and is the coordinator of the German network for mitochondrial disorders (mitoNET), as well as a member of the International Consortium of Mitochondrial Diseases.