Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

5th Edition

Editors: Roger Rosenberg Juan Pascual
Print ISBN: 9780124105294
eBook ISBN: 9780124105492
Imprint: Academic Press
Published Date: 13th November 2014
Page Count: 1464
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Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format.

Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases.

Key Features

  • Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease
  • Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain
  • Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations


Clinical neurologists, psychiatrists, psychologists, neuroscience researchers, clinical neurology researchers, general medical practitioners, and genetic and molecular biologists with an interest in neurogenetics

Table of Contents

Introduction to the 5th Edition
  Roger N. Rosenberg and Juan M. Pascual

1. Mendelian, nonmendelian, multigenic inheritance and epigenetics
  Tamar Harel, Davut Pehlivan, C. Thomas Caskey and James Lupski
2. Genotype-phenotype correlations
  Thomas D. Bird and Marie Davis
3. Immunogenetics of neurological disease
  Ramyiadarsini I. Elangovan, Sreeram V. Ramagopalan and David A. Dyment
4. Pharmacogenomic Approaches to the Treatment of  Sporadic Alzheimer's Disease using Cholinomimetic Agents
  Judes Poirier, Justin Miron and Cynthia Picard
5. Application of Mouse Genetics to Human Disease: Generation and Analysis of Mouse Models
  Teresa M. Gunn and Brenda Canine
6. DNA sequencing and other methods of exonic and genomic analysis
  Jin Mitsui, Hiroyuki Ishiura and Shoji Tsuji
7. Association, cause and  causal association: means, methods and measures
  Walter Anthony Kukull
8. Gene Therapy for Neurological Disease
  Theodore Friedmann
9. Direct induction of neural stem cells from somatic cells
  Hideyuki Okano
10. Neuroimaging in Dementias
  Prashanthi Vemuri, Melissa E. Murray and Clifford R. Jack
11. Cognitive Enhancers and Mental Impairment:  Emerging Ethical Issues
  Fabrice Jotterand, Jennifer McCurdy and Bernice Elger
12. Genetic counseling
  Wendy R. Uhlmann

13. Cerebral Malformations
  William David Graf and Shihui Yu
14. Global Developmental Delay and Intellectual Disability
  Michael Shevell and Myriam Srour
15. Down syndrome
  Allison M. Caban-Holt, Elizabeth Head and Frederick Schmitt
16. An Overview of Rett Syndrome
  Kristen L. Szabla and Lisa M. Monteggia
17. Fragile X-associated Disorders
  Reymundo Lozano, Em


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About the Editor

Roger Rosenberg

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 Aβ42 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

Affiliations and Expertise

The University of Texas Southwestern Medical Center, Dallas, TX, USA

Juan Pascual

Juan M. Pascual is the inaugural holder of The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases. He is a tenured faculty member in the Departments of Neurology and Neurotherapeutics, Physiology and Pediatrics and in the Eugene McDermott Center for Human Growth & Development / Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory). He is also a member of the Division of Pediatric Neurology, of the graduate Ph.D. programs in Neuroscience and Integrative Biology, and of the postgraduate clinical training programs in Neurology, Pediatric Neurology, Pediatrics and Medical Genetics. He also teaches at the UT Southwestern Medical School. Dr. Pascual directs a highly collaborative research laboratory and is credentialed at Children's Medical Center Dallas, UT Southwestern University Hospitals and Clinics and Parkland Memorial Hospital, where he consults on inpatients and outpatients with particularly complex or severe diseases. Much of his research is funded by the National Institutes of Health. He received certification in Neurology with Special Qualification in Child Neurology from the American Board of Psychiatry and Neurology. As one of few actively practicing pediatric neurologists in the U.S. who is also a laboratory scientist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. His laboratory is located in the newest biomedical research building at UT Southwestern and is an integral part of the Department of Neurology and Neurotherapeutics. The laboratory is home to scientists from very broad backgrounds and levels of training and expertise who have joined efforts to endow both pediatric neurology and human developmental neuroscience with a strong scientific basis. As a clinician, Dr. Pascual specializes in genetic and metaboli

Affiliations and Expertise

The University of Texas Southwestern Medical Center, Dallas, TX, USA


"...a thoroughly updated, essential book on the genetics of neurological and psychiatric disorders. Every clinician and researcher in neurology and psychiatry ought to be aware of the important information contained in this outstanding book. Score: 91 - 4 Stars" --Doody's

"Genetics and genomics have changed the practice of neurology and will continue to have huge impact on every discipline of medicine. In this fifth edition of the "bible" of Neurogenetics, Dr. Rosenberg and Dr. Pascual have done a remarkable job in leading the assembly of a volume that is truly representative of this rapidly advancing field –more than ½ of the chapters are new since the last edition. Here, in one place, one can access not only the genetics of common disorders, but virtually every metabolic disorder seen by neurologists, and new chapters on some of the major psychiatric disorders where genetics has played a crucial role in beginning to clarify disease pathophysiology. All of the major disorders, from those afflicting cortex to peripheral muscle are covered by the leading experts in their fields in a clear and authoritative manner. The organization is well conceived and progressive, beginning by providing a conceptual basis for the field, covering basic topics such as genetic counseling, genotype-phenotype relationships, the determination of causality in genetics, and new technologies such as genome sequencing in an exceptionally clear and comprehensive manner. Whether an expert or novice, if you are looking for one book that covers the field from A to Z, this is it." --Daniel Geschwind, Gordon and Virginia MacDonald Distinguished Professor Neurology, Psychiatry and Human Genetics and Director, Center for Autism Research and Treatment, Semel Institute, University of California, Los Angeles, CA