Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist.
1. Cover image - p. iv 2. Title page - p. iv 3. Table of Contents - p. iv 4. Copyright - p. iv 5. Handbook of Clinical Neurology 3rd Series - p. v 6. Foreword - p. vii 7. Preface - p. ix 8. Contributors - p. xi 9. Section I: Basic genetic concepts - p. xi 10. Chapter 1: Clinical approach to the patient with neurogenetic disease - p. xi 11. Chapter 2: Genetic and genomic testing for neurologic disease in clinical practice - p. 9 12. Chapter 3: Ethical issues in neurogenetics - p. 22 13. Chapter 4: Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease - p. 36 14. Chapter 5: Epigenetic mechanisms underlying nervous system diseases - p. 42 15. Chapter 6: Pharmacogenetics - p. 58 16. Chapter 7: Bioinformatics and genomic databases - p. 73 17. Chapter 8: Towards precision medicine - p. 92 18. Section II: Recurring biological themes in neurogenetics - p. 102 19. Chapter 9: Repeat expansion diseases - p. 102 20. Chapter 10: Mitochondrial diseases - p. 123 21. Chapter 11: The CAG–polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology - p. 141 22. Section III: Movement disorders - p. 170 23. Chapter 12: Autosomal-dominant cerebellar ataxias - p. 170 24. Chapter 13: Autosomal-recessive cerebellar ataxias - p. 185 25. Chapter 14: Genetics of Parkinson disease - p. 209 26. Chapter 15: Essential tremor - p. 227 27. Chapter 16: Inherited dystonias: clinical features and molecular pathways - p. 239 28. Chapter 17: Huntington disease - p. 254 29. Chapter 18: Wilson disease and related copper disorders - p. 278 30. Chapter 19: Neurodegeneration with brain iron accumulation - p. 291 31. Chapter 20: Primary familial brain calcifications - p. 305 32. Section IV: Neurodevelopmental disorders - p. 317 33. Chapter 21: Genetics of autism spectrum disorder - p. 317 34. Chapter 22: The emerging genetic landscape of cerebral palsy - p. 329 35. Chapter 23: Tourette disorder and other tic disorders - p. 342 36. Chapter 24: Sex chromosome aneuploidies - p. 354 37. Chapter 25: Fragile X syndrome and fragile X-associated tremor ataxia syndrome - p. 376 38. Index - p. pgI-1
Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist.
1. Cover image - p. iv 2. Title page - p. iv 3. Table of Contents - p. iv 4. Copyright - p. iv 5. Handbook of Clinical Neurology 3rd Series - p. v 6. Foreword - p. vii 7. Preface - p. ix 8. Contributors - p. xi 9. Section I: Basic genetic concepts - p. xi 10. Chapter 1: Clinical approach to the patient with neurogenetic disease - p. xi 11. Chapter 2: Genetic and genomic testing for neurologic disease in clinical practice - p. 9 12. Chapter 3: Ethical issues in neurogenetics - p. 22 13. Chapter 4: Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease - p. 36 14. Chapter 5: Epigenetic mechanisms underlying nervous system diseases - p. 42 15. Chapter 6: Pharmacogenetics - p. 58 16. Chapter 7: Bioinformatics and genomic databases - p. 73 17. Chapter 8: Towards precision medicine - p. 92 18. Section II: Recurring biological themes in neurogenetics - p. 102 19. Chapter 9: Repeat expansion diseases - p. 102 20. Chapter 10: Mitochondrial diseases - p. 123 21. Chapter 11: The CAG–polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology - p. 141 22. Section III: Movement disorders - p. 170 23. Chapter 12: Autosomal-dominant cerebellar ataxias - p. 170 24. Chapter 13: Autosomal-recessive cerebellar ataxias - p. 185 25. Chapter 14: Genetics of Parkinson disease - p. 209 26. Chapter 15: Essential tremor - p. 227 27. Chapter 16: Inherited dystonias: clinical features and molecular pathways - p. 239 28. Chapter 17: Huntington disease - p. 254 29. Chapter 18: Wilson disease and related copper disorders - p. 278 30. Chapter 19: Neurodegeneration with brain iron accumulation - p. 291 31. Chapter 20: Primary familial brain calcifications - p. 305 32. Section IV: Neurodevelopmental disorders - p. 317 33. Chapter 21: Genetics of autism spectrum disorder - p. 317 34. Chapter 22: The emerging genetic landscape of cerebral palsy - p. 329 35. Chapter 23: Tourette disorder and other tic disorders - p. 342 36. Chapter 24: Sex chromosome aneuploidies - p. 354 37. Chapter 25: Fragile X syndrome and fragile X-associated tremor ataxia syndrome - p. 376 38. Index - p. pgI-1
