Neurogenetics, Part I

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