Mitochondrial Diseases, Volume 194 - Handbook of Clinical Neurology (July 26, 2023)_(0128217510)_(Elsevier).pdf

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. Cover Series Page Copyright Copyright Available titles Foreword Foreword Preface Preface Contributors Contributors 1 Mitochondrial disease in neurology—Past, present, and future Neurological Clinical Features Molecular Diagnosis Clinical Management Conclusions References 2 Progressive external ophthalmoplegia Definition of Progressive External Ophthalmoplegia Historical Background Mitochondrial Progressive External Ophthalmoplegia (PEO) Kearns–Sayre Syndrome PEO-plus Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Sensory Ataxic Neuropathy Dysarthria Ophthalmoplegia (SANDO) Nonmitochondrial forms of PEO Conclusions Declaration of interests Funding information References 3 Mitochondrial optic neuropathies Introduction Leber's Hereditary Optic Neuropathy (LHON) Clinical presentation of LHON Genetic diagnosis of LHON LHON ``plus ́ ́ Autosomal Dominant Optic Atrophy (DOA) Clinical presentation of DOA Genetic diagnosis of DOA DOA ``plus ́ ́