Table of Contents

Section V.  Dementias 26. The genetic landscape of Alzheimer disease 27. Frontotemporal dementia 28. The genetics of dementia with Lewy bodies 29. Prion disease

Section VI.  Paroxysmal Disorders 30. Genetics of epilepsy 31. Genetics of migraine 32. Periodic paralysis 33. Episodic ataxias 34. Disorders of sleep and circadian rhythms

Section VII.  Neuromuscular Disorders 35. Facioscapulohumeral muscular dystrophy 36. The genetics of congenital myopathies 37. Genetic basis and phenotypic features of congenital myasthenic syndromes 38. Spinal muscular atrophy 39. Emerging understanding of the genotype:  Phenotype relationship in amyotrophic lateral sclerosis 40. Spinal and bulbar muscular atrophy 41. Hereditary spastic paraplegia 42. Neuropathy

Section VIII.  Diseases of White Matter and Demyelination 43. The spectrum of adult-onset heritable white matter disorders 44. Alexander disease 45. Neurogenetics of Pelizaeus-Merzbacher disease 46. Multiple sclerosis

Section IX.  Cerebrovascular Diseases 47. CADASIL

Section X.  Major Adult Psychiatric Disorders 48. Neuroepigenetics and addiction 49. Genetic susceptibility in obsessive-compulsive disorder

Section XI.  Cancer and Phakomatoses 50. Brain cancer genomics and epigenomics 51. Neurofibromatosis type 1 52. Tuberous sclerosis complex 53. Von Hippel-Lindau disease and Sturge-Weber syndrome

About the Author

Dr. Geschwind is the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at UCLA. In his capacity as Senior Associate Dean and Associate Vice Chancellor of Precision Health, he leads the Institute for Precision Health at UCLA. His laboratory has pioneered the application of systems biology methods in neurologic and psychiatric disease, describing multiple disease-causing genes and disease mechanisms in the book “Neurodevelopmental and Neurodegenerative Diseases.” Dr. Geschwind has put considerable effort into fostering large-scale collaborative patient resources for genetic research and data sharing in autism research. He has served on numerous scientific advisory boards, including the Faculty of 1000 Medicine, the Executive Committee of the American Neurological Association, the Scientific Advisory Board for the Allen Institute for Brain Science, the NIMH Advisory Council and the NIH Council of Councils. He has published over 400 papers and serves on the editorial boards of Cell, Neuron and Science. He has received several awards for his laboratory’s work and leadership including the Ruane Prize from the Brain and Behavior Foundation in 2013 and the Derek Denny-Brown Neurological Scholar Award from the American Neurological Association (ANA) in 2004. He is an elected Member of the American Association of Physicians and the National Academy of Medicine. Dr. Henry Paulson is the Lucile Groff Professor of Neurology for Alzheimer’s Disease and Related Disorders in the Department of Neurology at the University of Michigan. Dr. Paulson joined the U-M faculty in 2007, where he directs the programs in neurodegenerative diseases, the Michigan Alzheimer’s Disease Center and co-directs the University of Michigan Protein Folding Diseases Initiative. Dr. Paulson received his MD and PhD from Yale University in 1990, then completed a neurology residency and neurogenetics/movement disorders fellowships at the University of Pennsylvania. From 1997 to 2007, he was on the Neurology faculty at the University of Iowa. Dr. Paulson’s research and clinical interests concern the causes and treatment of age-related neurodegenerative diseases, with a focus on hereditary ataxias, polyglutamine diseases, and frontotemporal dementia. Dr. Paulson serves on the scientific advisory boards of numerous disease-related national organizations, and is past-Chair of the Board of Scientific Counselors at the National Institute for Neurological Disorders and Stroke at the National Institutes of Health. Dr. Christine Klein is a Professor of Neurology and Neurogenetics. She studied medicine in Hamburg, Heidelberg, Luebeck (1988-1994), and London (with Dr. N.P. Quinn in 1994/1995). She moved to Boston from 1997-1999 for a fellowship in Molecular Neurogenetics under the mentorship of Dr. X.O. Breakefield. Dr. Klein completed her neurology training at Luebeck University with Dr. D. Koempf in 2004, followed by a series of summer sabbaticals in movement disorders with Dr. A.E. Lang in Toronto, Canada in 2004-2015. She was appointed Lichtenberg Professor at the Department of Neurology of Luebeck University in 2005, where her research has focused on the clinical and molecular genetics of movement disorders and its functional consequences. In 2009, Dr. Klein has been awarded a Schilling Section of Clinical and Molecular Neurogenetics at the University of Luebeck and has become Director of the newly founded Institute of Neurogenetics in 2013.
Dr. Klein has published over 400 scientific papers and is the 2008 recipient of the Derek Denny-Brown Award of the American Neurological Association. She is an Associate Editor of ‘Annals of Neurology’ and of ‘Movement Disorders’. She has served as chair of the Congress Scientific Program Committee of the 2016/2017 Annual Congresses of the International Parkinson and Movement Disorder Society and is President-Elect of the German Neurological Society.