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Klappentext 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. . Inhaltsverzeichnis Section I. Basic Genetic Concepts 1. Clinical approach to the patient with neurogenetic disease2. Genetic and genomic testing for neurological disease in clinical practice 3. Ethical issues in neurogenetics4. Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease5. Epigenetic mechanisms underlying nervous system diseases6. Pharmacogenetics7. Bioinformatics and genomic databases8. Towards precision medicine Section II. Recurring Biological Themes in Neurogenetics 9. Repeat expansion diseases10. Mitochondrial diseases11. The CAG ¿ polyglutamine repeat diseases: A clinical, molecular, genetic and pathophysiological nosology Section III. Movement Disorders 12. Autosomal dominant cerebellar ataxias13. Autosomal recessive cerebellar ataxias 14. Genetics of Parkinson disease15. Essential Tremor16. Inherited dystonias: Clinical features and molecular pathways17. Huntington¿s Disease18. Wilson Disease and related copper disorders19. Neurodegeneration with brain iron accumulation (NBIA)20. Primary familial brain calcifications Section IV. Neurodevelopmental Disorders 21. Genetics of autism spectrum disorder22. The emerging genetic landscape of cerebral palsy23. Tourette disorder and other tic disorders24. Sex chromosome aneuploidies25. Fragile X syndrome and fragile X-associated tremor ataxia syndrome ...
List of contents
Section I. Basic Genetic Concepts1. Clinical approach to the patient with neurogenetic disease2. Genetic and genomic testing for neurological disease in clinical practice 3. Ethical issues in neurogenetics4. Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease5. Epigenetic mechanisms underlying nervous system diseases6. Pharmacogenetics7. Bioinformatics and genomic databases8. Towards precision medicine
Section II. Recurring Biological Themes in Neurogenetics9. Repeat expansion diseases10. Mitochondrial diseases11. The CAG - polyglutamine repeat diseases: A clinical, molecular, genetic and pathophysiological nosology
Section III. Movement Disorders12. Autosomal dominant cerebellar ataxias13. Autosomal recessive cerebellar ataxias 14. Genetics of Parkinson disease15. Essential Tremor16. Inherited dystonias: Clinical features and molecular pathways17. Huntington's Disease18. Wilson Disease and related copper disorders19. Neurodegeneration with brain iron accumulation (NBIA)20. Primary familial brain calcifications
Section IV. Neurodevelopmental Disorders21. Genetics of autism spectrum disorder22. The emerging genetic landscape of cerebral palsy23. Tourette disorder and other tic disorders24. Sex chromosome aneuploidies25. Fragile X syndrome and fragile X-associated tremor ataxia syndrome
