The Molecular and Genetic Basis of Neurologic and Psychiatric Disease / Edition 4

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110 of the world's foremost authorities explore the latest advances in molecular and cellular neurobiology and molecular neurogenetics and their implications for the development of pharmacologic or gene therapy for patients with genetic diseases of the nervous system. The 3rd Edition features a new section on psychiatric diseases, 26 additional new chapters, and an even stronger clinical focus, offering practical guidance on a full range of diseases and the roles that molecular biology and genetics play in their diagnosis and management.the latest advances in molecular research.
  • Includes a brand-new section on Psychiatric Diseases, edited by Dr. Eric J. Nestler, that features chapters on Challenges in Psychiatric Genetics · Depression · Bipolar Disorders · Schizophrenia · Obsessive-Compulsive Disorder and Tourette's Syndrome · Molecular and Genetic Basis of Addiction · and Autism.
  • Offers two new chapters on Degenerative Diseases and Protein Processing and Prion Diseases, authored by Dr. Stanley B. Prusiner, winner of the 1997 Nobel Prize in Medicine for his research defining the molecular and genetic basis of the spongiform encephalopathies and the expression of the prion gene under both physiologic and pathologic conditions.
  • Incorporates new data and insights from the analysis and sequencing of the human genome into three new chapters on The Human Genome Project and Neurological Disease, Gene Therapy, and Ethical Issues in Diagnosis and Therapy.
  • Features 21 additional new chapters: Animal Models (mice, worms, flies) · Gene Targeting/Gene Mapping · Genotype/Phenotype Correlations · Mitochondrial Disorders Due to Mutations in the Nuclear Genome · Mitochondria in Neurodegenerative Disorders · Lysosomal Membrane Disorders - LAMP-2 Deficiency · Alzheimer's Disease and Related Dementias · Movement Disorders · Neuronopathies · Limb Girdle Muscular Dystrophies · Congenital Myopathies · Hereditary Inclusion - Body Myopathies · Facioscapulohumeral Muscular Dystrophy · The Phakomatoses: Disorders of Skin and Brain · Disorder of Galactose Metabolism · Disorders of Glucose Transport · Congenital Disorders of Glycosylation · Disorders of Glutathione Metabolism · Friedreich Ataxia and Iron Metabolism · The Influence of Alpha Tocopherol, Caloric Restriction and Genes on Life Span · and A Neurologic Gene Map.
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Editorial Reviews

Doody's Review Service
Reviewer: Michael Joel Schrift, DO, MA (University of Illinois at Chicago College of Medicine)
Description: This fourth edition is representative of the tremendous developments in neurogenetics. With the sequencing of the human genome and the possibility of understanding the intervening mechanisms between DNA and phenotype, our ability to understand the fundamental components of disease pathogenesis has the potential to become realized. With this insight, medicine and the treatment of disease will become individualized. This book reviews the progress made thus far in this noble journey. Written and edited by internationally recognized authorities in the field, it is an outstanding contribution to the neurologic and psychiatric literature.
Purpose: The editors "hope that this body of information described here will serve to stimulate the next generation of neurologists, psychiatrists, and neuroscientists to enter this field and to move forward aggressively toward a clearer understanding of the molecular and genetic basis of neurologic and psychiatric disease well into the 21st century."
Audience: The intended audience includes "clinicians caring for patients with hereditary neurologic and psychiatric disorders and investigators concerned with the scientific issues that these disorders pose."
Features: The first section reviews such topics as repeat expansion disorders, Mendelian and non-Mendelian traits, genomics, gene therapy, genotype-phenotype correlations and includes an important chapter on emerging ethical issues in the field. Section two, the core of the book, covers specific neurologic diseases in detail, including trinucleotide repeat disorders, prion diseases, Down syndrome, mitochondrial disorders, peroxisomal disorders, lysosomal disorders, degenerative disorders, neuro-oncology, epilepsy, demyelinating disorders, neuropathies and neuronopathies, congenital myasthenia, myopathies, neurodermatologic disorders, metabolic disorders, disorders of purine metabolism, the porphyrias, disorders of metal metabolism, and vitamin related disorders. Psychiatric disease is the focus of section three, with an interesting chapter on challenges in this area of study and other chapters focusing on the progress made in the various psychiatric disorders. The final section is the neurologic gene map, listing chromosome by chromosome the regions associated with particular diseases. Each chapter concludes with pertinent citations of the scientific literature and helpful index ends the book.
Assessment: This is an excellent updated edition of an essential book on the genetics of neurologic and psychiatric disorders. Every clinician and researcher in neurology and psychiatry ought to be aware of the important information contained in this outstanding book.
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Product Details

  • ISBN-13: 9780781769563
  • Publisher: Lippincott Williams & Wilkins
  • Publication date: 11/1/2007
  • Edition description: Fourth Edition
  • Edition number: 4
  • Pages: 912
  • Product dimensions: 8.60 (w) x 10.90 (h) x 1.50 (d)

Meet the Author

Roger N. Rosenberg, MD holds the Abe (Brunky), Morris and William Zale Distinguished Chair and Professor of Neurology, University of Texas Southwestern Medical Center at Dallas. He served as Chair of the Department of Neurology from 1973- 1991. He is the founding Director of the NIH funded Alzheimer’s Disease Center at UT Southwestern and it has been funded through five consecutive competitive funding cycles since 1988 and will be funded through 2016 representing 27 years of continuous NIH Center funding. He is certified by the American Board of Psychiatry and Neurology. He served as Chief Resident in Neurology to H. Houston Merritt, MD, Neurological Institute, Columbia University Medical Center, New York, 1967-1968. He was a Post-Doctoral Research Fellow for Marshall Nirenberg, PhD, Laboratory of Biochemical Genetics, National Institutes of Health, 1968-1970.
Dr. Rosenberg has received important honors and awards including the prestigious UT Chancellor’s Discovery Lecture, invited by Chancellor Francisco Cigarroa for the Chancellor’s Council Meeting and Symposium, the University of Texas System, 2013. The Discovery Lecture was: “DNA Aß42 Vaccination as Therapy for Alzheimer’s Disease”. He was awarded the World Federation of Neurology, 1st Science Medal for Scientific Achievements in Neurology and Neuroscience, presented at the World Congress of Neurology in Bangkok, Thailand in 2009.
He is an Honorary Member (Elected) of the American Neurological Association, 2006 and the American Academy of Neurology 1997.
He received the Nancy R. McCune Research Award of the Alzheimer’s Association (AWARE) (2005).
He was the Robert Wartenberg Lecturer of the American Academy of Neurology, 2000, and his lecture was “The Molecular and Genetic Basis of Alzheimer’s Disease”.
He is an elected Honorary Member, Spanish Neurological Society, 1994. He was awarded the 1st Distinguished Neurology Alumnus Award of the Neurological Institute; Columbia University Medical Center; 1994.
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present).
He was elected a Fellow, American Association for the Advancement of Science, February 1991
He was elected President of the American Academy of Neurology (1991-1993) and
1st Vice President of the American Neurological Association (1988-89). He received the Northwestern University Medical School Alumni Association Merit Award (1986).
In 2006, he published for the first time that a DNA A ß42 vaccine administered with the gene gun method into the skin of Alzheimer disease model mice can reduce Aß42 peptide levels in the brain by 50% with anti-A ß42 antibody of the IgG1/Th2 type which is known to be anti-inflammatory. He received in 2009 a US Patent as Inventor of “Amyloid ß Gene Vaccines”. This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.
He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. MJD is now the most common autosomal domiant spinocerebellar ataxia world-wide.
Dr. Rosenberg has published over 270 original scientific papers, chapters, reviews and editorials. He is the founding editor and senior editor since 1993 for all five editions of “The Molecular and Genetic Basis of Neurological and Psychiatric Diseases”.

Dr. Nestler is the Nash Family Professor of Neuroscience at the Mount Sinai School of Medicine in New York, where he serves as Chair of the Department of Neuroscience and Director of the Friedman Brain Institute. He received his B.A., Ph.D., and M.D. degrees, and psychiatry residency training, from Yale University. He served on the Yale faculty from 1987-2000, where he was the Elizabeth Mears and House Jameson Professor of Psychiatry and Neurobiology, and Director of the Division of Molecular Psychiatry. He moved to Dallas in 2000 where he served as the Lou and Ellen McGinley Distinguished Professor and Chair of the Department of Psychiatry at The University of Texas Southwestern Medical Center until moving to New York in 2008. Dr. Nestler is a member of the Institute of Medicine and a Fellow of the American Academy of Arts and Sciences. The goal of Dr. Nestler’s research is to better understand the molecular mechanisms of addiction and depression based on work in animal models, and to use this information to develop improved treatments of these disorders.

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Table of Contents

GENERAL CONCEPTS OF MECHANISMS OF DISEASE: Repeat Expansion Disorders: General Concepts and Mechanisms of Disease / Mendelian, Nonmendelian, Multigenic Inheritance, and Complex Traits / Selected Genetically Engineered Models Relevant to Human Neurodegenerative Disease / Gene Mapping to Gene Targeting: Application of Mouse Genetics to Human Disease / Human Genomics and Disease / Gene Therapy for Central Nervous System Disorders / Emerging Ethical Issues in Neurology, Psychiatry, and the Neurosciences / Genotype-Phenotype Correlations
NEUROLOGIC DISEASES: Down Syndrome / Triplet Repeat Diseases: Genetics, Clinical Features, and Pathogenesis / Prion Diseases
Mitochondrial Disorders: The Mitochondrial Genome / Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome / Mitochondrial Disorders Due to Mutations in the Nuclear Genome / Mitochondria in Neurodegenerative Disorders
Peroxisomal Disorders: Perioxisomal Disorders
Lysosomal Disorders: Gaucher Disease / The Niemann-Pick Diseases / The Gm2-Gangliosidoses / Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency: Sulfatide Lipidosis / Krabbe Disease: Globoid Cell Leukodystrophy / The Mucopolysaccharidoses and the Mucolipidoses / Disorders of Glycoprotein Degradation: Sialidosis, Fucosidosis, Alpha-Mannosidosis, Beta- / Beta-Galactosidase Deficiency: GM1 Gangliosidosis, Morquio B Disease, and Galactosialidosis / Farber Disease: Acid Ceramidase Deficiency, Farber Lipogranulomatosis / Wolman Disease / Lysosomal Membrane Disorders: LAMP-2 Deficiency / Fabry Disease: Alpha Galactosidase A Deficiency / Schindler Disease: Deficient Alpha-N-Acetylgalacosaminidase Activity
Degenerative Disorders: Alzheimer's Disease / Frontotemporal Dementias / Genetics of Movement Disorders / The Inherited Ataxias / Canavan Disease / Hereditary Spastic Paraplegia
Neuro-Oncology: Neuro-Oncology: The Neurofibromatoses
Epilepsy: The Genetic Epilepsies
Demyelinating Disease: Demyelinating Diseases
Neuropathies and Neuronopathies: Peripheral Neuropathies / The Molecular and Genetic Basis of Spinal Muscular Atrophies
Congenital Myasthenic Syndromes: Congenital Myasthenic Syndromes
Myopathies: Dystrophinopathies / Limb-Girdle Muscular Dystrophies / The Congenital Myopathies / The Distal Myopathies / Hereditary Inclusion-Body Myopathies / The Myotonic Dystrophies / Facioscapulohumeral Dystrophy / Ion Channel Disorders
Dermatologic and Brain Disorders: The Phakomatoses / Lipoprotein Disorders / Apolipoprotein E: Structure and Function in Lipid Metabolism and Neurobiology / Cerebrotendinous Xanthomatosis
Metabolic Disorders: Disorders of Lipid Metabolism / Glycogen Storage Diseases / Disorders of Galactose Metabolism / Inborn Errors of Amino Acid Metabolism / Disorders of the Urea Cycle / Disorders of Glucose Transport / Maple Syrup Urine Disease: Clinical and Biochemical Perspectives / Congenital Disorders of N-linked Glycosylation / Disorders of Glutathione Metabolism
Purines: Purines
Porphyrias: The Porphyrias
Metal Metabolism: Friedreich Ataxia / Disorders of Copper Metabolism: Wilson Disease and Menkes Disease
Vitamins: Genetic and Dietary Influences on Life Span / Vitamins: Cobalamin and Folate / Disorders of Biotin Metabolism: Treatable Neurologic Syndromes
PSYCHIATRIC DISEASE: Psychiatric Diseases: Challenges in Psychiatric Genetics / Depression / Bipolar Disorder / Schizophrenia / Obsessive-Compulsive Disorder and Tourette's Syndrome / Genetic Bases of Addictive Behaviors / Autism
A NEUROLOGIC GENE MAP: A Neurologic Gene Map

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