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.
Table of Contents
Section I. Basic Genetic Concepts 1. Clinical approach to the patient with neurogenetic disease 2. Genetic and genomic testing for neurological disease in clinical practice 3. Ethical issues in neurogenetics 4. Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease 5. Epigenetic mechanisms underlying nervous system diseases 6. Pharmacogenetics 7. Bioinformatics and genomic databases 8. Towards precision medicine
Section II. Recurring Biological Themes in Neurogenetics 9. Repeat expansion diseases 10. Mitochondrial diseases 11. The CAG polyglutamine repeat diseases: A clinical, molecular, genetic and pathophysiological nosology
Section III. Movement Disorders 12. Autosomal dominant cerebellar ataxias 13. Autosomal recessive cerebellar ataxias 14. Genetics of Parkinson disease 15. Essential Tremor 16. Inherited dystonias: Clinical features and molecular pathways 17. Huntington's Disease 18. Wilson Disease and related copper disorders 19. Neurodegeneration with brain iron accumulation (NBIA) 20. Primary familial brain calcifications
Section IV. Neurodevelopmental Disorders 21. Genetics of autism spectrum disorder 22. The emerging genetic landscape of cerebral palsy 23. Tourette disorder and other tic disorders 24. Sex chromosome aneuploidies 25. Fragile X syndrome and fragile X-associated tremor ataxia syndrome
