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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 disordersFocuses on neurological symptoms of mitochondrial diseasesPresents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and moreCovers histology, metabolism, genetic, and neuroimaging diagnosticsSummarizes both available and emerging therapiesIncludes clinical trials, the use of biomarkers and reproductive options
Foreword
Preface
Contributors
Mitochondrial disease in neurology—Past, present, and future
Progressive external ophthalmoplegia
Mitochondrial optic neuropathies
Leigh syndrome
Stroke-like episodes in adult mitochondrial disease
Ataxia and spastic paraplegia in mitochondrial disease
Peripheral neuropathy in mitochondrial disease
Complex neurological and multisystem presentations in mitochondrial disease
Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis
Laboratory and metabolic investigations
Neuroimaging in mitochondrial disease
Currently available therapies in mitochondrial disease
Reproductive options in mitochondrial disease
Clinical trials in mitochondrial diseases
Blood biomarkers of mitochondrial disease—One for all or all for one?
Experimental therapy for mitochondrial diseases
Inde