MITOCHONDRIAL CASE STUDIES. UNDERLYING MECHANISMS AND DIAGNOSIS. PRINT ON DEMAND

• Contributors
• Preface
• Chapter 1. Introduction: Mitochondrial Medicine
o Introduction
o Overview of Mitochondrial Structure and Function
o A Brief History of Clinical Mitochondrial Medicine and Clinical Features
• Part I. Mitochondrial DNA Encoded Diseases
o Chapter 2. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
? Case Presentation
? Introduction
? Pathophysiology
? Diagnostic Approach
? Differential Diagnosis
? Treatment
? Clinical Pearls
o Chapter 3. MERRF: Myoclonus Epilepsy and Ragged Red Fibers
? Case Presentations
? Differential Diagnosis
? Treatment Strategies
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 4. Pearson Syndrome
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategies
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 5. Kearns-Sayre Syndrome
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach and Pathophysiology
? Treatment
? Long-Term Outcome
? Clinical Pearls
o Chapter 6. Chronic Progressive External Ophthalmoplegia (CPEO)
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 7. Leber Hereditary Optic Neuropathy
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Case Management
? Clinical Pearls
o Chapter 8. Leigh Syndrome
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach and Pathophysiology
? Treatment
? Clinical Pearls
o Chapter 9. Neuropathy, Ataxia, and Retinitis Pigmentosa
? Case Presentation
? Differential Diagnosis and Diagnostic Approach
? Clinical Presentation
? Pathophysiology
? Treatment
? Clinical Pearls
o Chapter 10. Maternally Inherited (Mitochondrial) Diabetes
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
o Chapter 11. Sporadic Myopathy
? Case Presentations
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Clinical Pearls
• Part II. Nuclear Encoded Diseases
o Chapter 12. Pyruvate Dehydrogenase Complex Deficiency
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Effects on Brain Pathology Pre- and Postnatally
? Clinical Pearls
o Chapter 13. Friedreich Ataxia
? Case Presentation
? Differential Diagnosis and Diagnostic Approach
? Clinical Presentation
? Pathophysiology
? Treatment
? Clinical Pearls
o Chapter 14. Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome
? Introduction
? Diagnostic Pipeline
? Case Studies
? Discussion
? Clinical Pearls
o Chapter 15. Reversible Infantile Respiratory Chain Deficiency
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
o Chapter 16. Childhood Alpers-Huttenlocher Syndrome
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Clinical Pearls
o Chapter 17. Juvenile Alpers-Huttenlocher Syndrome
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Treatment
? Clinical Pearls
o Chapter 18. Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Clinical Pearls
? Case Management
o Chapter 19. Infantile-Onset Spinocerebellar Ataxia (IOSCA)
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
o Chapter 20. MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
o Chapter 21. Mitochondrial DNA Depletion Syndromes Presenting in Childhood
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Clinical Pearls
o Chapter 22. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
o Chapter 23. TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Testing Strategy
? Pathophysiology
? Clinical Pearls
o Chapter 24. Autosomal Dominant Optic Atrophy
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Case Management
? Clinical Pearls
o Chapter 25. Childhood-Onset Peripheral Neuropathy with Cognitive Decline
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Clinical Pearls
o Chapter 26. Brain-Specific Mitochondrial Aminoacyl-tRNA Synthetase Disorders: Mitochondrial Arginyl-Transfer RNA Synthetase Deficiency
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Pathophysiology
? Clinical Pearls
o Chapter 27. Mitochondrial Aminoacyl-tRNA Synthetase Disorders Not Generally Affecting Brain
? Case Presentations
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 28. Defects in Post-Transcriptional Modification of Mitochondrial Transferase RNA: A Patient with Possible Mitochondrial-tRNA Translation Optimization Factor 1, MTO1 Dysfunction
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Pathophysiology
? Clinical Pearls
o Chapter 29. Complex I Deficiency
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 30. Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Long-Term Outcome and Treatment Strategy
? Pathophysiology of Disease
? Clinical Pearls
o Chapter 31. BCS1L Mutations as a Cause of Björnstad Syndrome-GRACILE Syndrome Complex III Deficiency
? Case Presentations
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 32. Complex IV
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 33. Complex V Disorders
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology
? Clinical Pearls
o Chapter 34. Primary Cerebellar CoQ10 Deficiency
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
o Chapter 35. Multisystemic Infantile CoQ10 Deficiency with Renal Involvement
? Case Presentation
? Differential Diagnosis
? Diagnostic Approach
? Treatment Strategy
? Long-Term Outcome
? Pathophysiology/Neurobiology of Disease
? Clinical Pearls
• Index

Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments.

KEY FEATURES
• Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis
• Provides information on underlying mechanisms of mitochondrial disease
• Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process.

Authors
• Russell Saneto, DO, PhD, Department Neurology/Division Pediatric Neurology, Seattle Children’s and University of Washington, Seattle, WA USA.
• Sumit Parikh, Associate Professor of Neurology and Pediatrics, Cleveland Clinic Lerner College of Medicine & Case Western Reserve University, Cleveland, OH, USA; Director of the Neurogenetics, Metabolism and Mitochondrial Disease Center, Cleveland Clinic, Cleveland, OH, USA.
• Bruce H Cohen, Professor of Pediatrics, Northeast Ohio Medical University, Rootstown, OH, USA; Director of The NeuroDevelopmental Science Center and Divison of Neurology, and Department of Pediatrics, Children's Hospital and Medical Center of Akron, Akron, OH, USA