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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease - 5th Edition - ISBN: 9780124105294, 9780124105492

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

5th Edition

Editors: Roger N. Rosenberg Juan M. Pascual
Hardcover 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, Emma Hare and Randi J. Hagerman
18. Autism Spectrum Disorders: Clinical Considerations
  Patricia Evans, Sailaja Golla and Mary Ann Morris
19. Metabolic and Genetic Causes of Autism
  Sailaja Golla and Patricia Evans
20. Angelman syndrome
  Charles A. Williams and Jennifer M. Mueller
21. Prion diseases
  James A. Mastrianni

Mitochondrial Disorders
22. The Mitochondrial Genome
  Eric A. Schon
23. Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome
  Salvatore DiMauro and Carmen Paradas
24. Mitochondrial Disorders Due to Mutations in the Nuclear Genome
  Patrick Chinnery
25. Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle and mitochondrial transport disorders
  Mireia Tondo, Isaac Marin-Valencia, Qian Ma and Juan M. Pascual

Lysosomal Disorders
26. Gaucher Disease – Neuronopathic Forms
  Raphael Schiffmann
27. The Niemann-Pick Diseases
  Edward H. Schuchman and Robert J. Desnick
28. GM2-Gangliosidoses
  Gregory M. Pastores and Gustavo H.B. Maegawa
29. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency
  Florian S. Eichler
30. Krabbe Disease: Globoid Cell Leukodystrophy
  David A. Wenger and Paola Luzi
31. The Mucopolysaccharidoses
  Reuben Matalon, Kimberlee Michals Matalon and Geetha L. Radhakrishnan
32. Mucolipidoses
  Reuben Matalon, Kimberlee Michals Matalon and Geetha L. Radhakrishnan
33. Disorders of Glycoprotein Degradation: Sialidosis, Fucosidosis, Alpha-Mannosidosis, Beta-Mannosidosis and Aspartylglycosaminuria
  William G. Johnson
34. Beta-Galactosidase Deficiency: GM1 Gangliosidosis, Morquio B Disease
  William G. Johnson
35. Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy
  Michael Beck, Hugo W. Moser, and Konrad Sandhoff
36. Wolman Disease
  Isaac Marin-Valencia and Juan M. Pascual
37. Lysosomal Membrane Disorders: LAMP-2 Deficiency
  Kazuma Sugie and Ichizo Nishino
38. Fabry Disease: α-Galactosidase A Deficiency
  Robert J. Desnick
39. Schindler Disease: Deficient-N-Acetylgalactosaminidase Activity
  Detlev Schindler and Robert J. Desnick

Metal Metabolism Disorders
40. Wilson Disease
  Golder North Wilson
41. Menkes disease and other ATP7A disorders
  Juan M. Pascual and John H. Menkes
42. Neurodegeneration with Brain Iron Accumulation
  Susanne A. Schneider
43. Pantothenate-kinase associated neurodegeneration
  Michael C. Kruer
44. Disorders of manganese transport
  Isaac Marin-Valencia
45. Aceruloplasminemia
  Satoshi Kono and Hiroaki Miyajima

Vitamin Disorders
46. Genetic and Dietary Influences on Life Span
  Yian Gu, Nicole Schupf and Richard Mayeux
47. Vitamins: Cobalamin and Folate
  David Watkins, Charles Venditti and David S. Rosenblatt
48. Disorders of Biotin Metabolism: Treatable Neurologic Syndromes
  Sara Elrefai and Barry Wolf
49. Disorders of Pyridoxine Metabolism
  Clara van Karnebeek and Sidney M. Gospe Jr.

Lipid metabolism disorders
50. Disorders of Lipid Metabolism
  Stefano Di Donato and Franco Taroni
51. Lipoprotein Disorders
  Mary J. Malloy and John P. Kane
52. Cerebrotendinous xanthomatosis
  Vladimir Berginer, Gerald Salen and Shailendra B. Patel
Other Metabolic Disorders
53. Organic acid disorders
  Margretta Reed Seashore
54. Glycogen Storage Diseases
  Salvatore DiMauro and Hasan Orhan Akman
55. Disorders of Galactose Metabolism
  Gerard T. Berry
56. Inborn Errors of Amino Acid Metabolism
  William L. Nyhan and Richard Haas
57. The Urea cycle disorders
  Nicholas Ah Mew, Maria Belen Pappa and Andrea Lynne Gropman
58. Glucose transporter type I deficiency  and other glucose flux disorders
  Juan M. Pascual, Dong Wang and Darryl De Vivo
59. Maple Syrup Urine Disease: Clinical and Therapeutic Considerations
  David T. Chuang, R. Max Wynn, Rody P. Cox and Jacinta L. Chuang
60. Congenital Disorders of N-linked Glycosylation
  Marc C. Patterson
61. Disorders of Glutathione Metabolism
  Koji Aoyama and Toshio Nakaki
62. Canavan Disease
  Reuben Matalon
63. Neurotransmitter disorders
  Á. García-Cazorla and R. Artuch
64. Peroxisomal Disorder
  Gerald V. Raymond
65. Disorders of Purine Metabolism
  William L. Nyhan
66. The Porphyrias
  D. Montgomery Bissell

67. Alzheimer's disease
  Dennis J. Selkoe
68. Genetics of Parkinson Disease and Related Diseases
  Jill Goldman and Stanley Fahn
69. Frontotemporal dementia
  Shunichiro Shinagawa and Bruce Miller
70. THE Neuronal Ceroid-Lipofuscinoses (Batten Disease)
  Sara E. Mole and Matti J. Haltia

71. The Inherited ataxias
  Roger N. Rosenberg and Pravin Khemani
72. Friedreich ataxia
  Massimo Pandolfo
73. Ataxia-telangiectasia
  Shuki Mizutani
74. Dystonia
  Katja Lohmann and Christine Klein
75. Huntington’s disease
  Andrew McGarry, Frederick J. Marshall and Kevin Michael Biglan
76. Non-Parkinsonian Movement Disorder
  Stanley Fahn and Jill Goldman
77. Hereditary Spastic Paraplegia
  John K. Fink

78. Glioblastoma
  Elizabeth Maher and Robert Bachoo

79. Neurofibromatoses
  David H. H. Gutmann and Adam Ostendorf
80. Tuberous Sclerosis Complex
  Monica P. Islam and E. Steve Roach
81. Sturge-Weber Syndrome
  Anne Comi, Douglas A. Marchek and Jonathan Pevsner
82. Hemangioblastomas of the Central Nervous System
  Ana Metelo and Othon Iliopoulos
83. Incontinentia pigmenti
  A. Yasmine Kirkorian and Bernard A. Cohen

84. The Genetic Epilepsies
  Robert Macdonald and Martin J Gallagher

85. Multiple sclerosis
  Stephen Lawrence Hauser, Jorge R. Oksenberg and Sergio E. Baranzini
86. Vanishing White Matter Disease
  Orna Elroy-Stein and Raphael Schiffmann

87. The Genetics of Amyotrophic Lateral Sclerosis
  Jemeen Sreedharan and Robert Brown
88. Peripheral Neuropathies
  Steven S. Scherer, Kleopas A. Kleopa and Merrill D. Benson
89. Spinal Muscular Atrophy
  Bakri Elsheikh, William David Arnold and John T. Kissel
90. Pain Genetics
  William Renthal

91. Dystrophinopathies
  Eric P. Hoffman
92. Limb-Girdle Muscular Dystrophy
  Wen-Chen Liang and Ichizo Nishino
93. The Congenital Myopathies
  Heinz Jungbluth, Caroline Sewry and Francesco Muntoni
94. The Distal Myopathies
  Ami Mankodi, Bjarne Udd and Robert C. Griggs
95. Hereditary Inclusion-Body Myopathies
  Massimilliano Mirabella and Aldobrando Broccolini
96. The Myotonic Dystrophies
  Richard Thomas Moxley III, James Hilbert and Giovanni Meola
97. Facioscapulohumeral Dystrophy
  Rabi Tawil
98. Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias
  Jeffrey Ralph and Louis Ptáček
99. Congenital Myasthenic Syndromes
  Andrew G. Engel

100. Cerebral Vasculopathies                          
  Michael M. Dowling
101. Coagulopathies
  Fenella Jane Kirkham
102. Sickle Cell Disease
  Fenella Jane Kirkham

103. Depression
  Steven T. Szabo and Charles B. Nemeroff
104. Bipolar Disorder
  Scott C. Fears and Victor I. Reus
105. Schizophrenia
  David W. Volk and David A. Lewis
106. Obsessive-Compulsive Disorder
  Michael Bloch, Jessica Lennington, Gabor Szuhay and Paul J. Lombroso
107. Tourette Syndrome
  Jessica Lennington, Michael Bloch, Lawrence Scahill, Gabor Szuhay, Paul J. Lombroso and Flora Vaccarino
108. Addiction
  Scott D. Philibin and John C. Crabbe

109. A Neurologic Gene Map
  Saima N. Kayani, Kathleen S. Wilson and Roger N. Rosenberg


No. of pages:
© Academic Press 2015
13th November 2014
Academic Press
Hardcover ISBN:
eBook ISBN:

About the Editors

Roger N. Rosenberg

Roger N. Rosenberg

Roger N. Rosenberg, MD is a graduate of Northwestern University Medical School, With Distinction, and was subsequently trained in Neurology with H. Houston Merritt, MD at the Neurological Institute, Columbia University, New York, was Chief Resident and then was a Post-Doctoral Fellow with Nobel Laureate Marshall Nirenberg at the NIH in the Laboratory of Biochemical Genetics. He is Board Certified by the American Board of Psychiatry and Neurology. He is holder of the Zale Distinguished Chair and Professor of Neurology and Neurotherapeutics at the University of Texas Southwestern Medical Center at Dallas since 1973 and developed the department for 18 years as Chair from 1973-1991. He described for the first time in 1975 Machado Joseph disease, an autosomal dominant cerebellar degeneration, which produces imbalance and impaired coordination, and showed it was due to a unique expansion of DNA in the causal gene. It is the most common inherited form of impaired coordination in the world and his research has provided a genetic marker to eliminate it in large families in future generations. He has served as the Founding Director of the UT Southwestern NIH funded Alzheimer’s Disease Center and Principal Investigator of the NIH Center Grant from 1987-2019. He directs an active laboratory effort in Alzheimer’s Disease. He is developing a DNA Aβ42 trimer vaccine for Alzheimer's disease for which he was awarded a US Patent "Amyloid Beta Gene Vaccines" in January 2009. It has been tested in mouse, transgenic mouse, New Zealand white rabbits and rhesus monkeys. The vaccine produces effective anti-Aβ42 peptide antibody levels and is non-inflammatory in all three species. The vaccine reduces by 40% Aβ42 peptide and by 50% tau and phospho-tau in the brains of 3X AD Tg mice, the two main pathologies of Alzheimer’s disease, with high levels of anti-Aβ42 antibody and with a non-inflammatory immune response. He is preparing now a Phase 1 Clinical trial Grant - First in Human to determine its effectiveness and safety in human subjects. He has published 297 original scientific articles, chapters, reviews, and editorials. He served as Editor in Chief from 1997 through 2017 for JAMA Neurology (formerly Archives of Neurology), a major international neurology journal, published by the American Medical Association. During his tenure, he raised the Impact Factor of the journal from 3.0 to 10.2, placing JAMA Neurology as #1 of all US publications in neurology. He is the founding editor of two of the landmark texts in neuroscience. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th edition, published in 2015 by Elsevier. The 6th edition will publish in 2020. The Atlas of Clinical Neurology, 4th edition, has just been published. He is a former President of the American Academy of Neurology, former Vice-President of the American Neurological Association, an Honorary Member of both organizations, and a Fellow of the American Association for the Advancement of Science. He received the first Science Medal in 2009 from the World Federation of Neurology for his contributions to neuro-genetics, for his original clinical and molecular genetics research on Machado-Joseph disease, and the development of the DNA Abeta42 trimer vaccine for Alzheimer’s disease.

Affiliations and Expertise

Abe (Brunky), Morris and William Zale Distinguished Chair in Neurology, Professor of Neurology and Neurotherapeutics, Founding Director, Alzheimer’s Disease Center Head, Section on Memory and Behavioral Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

Juan M. Pascual

Juan M. Pascual

Juan M. Pascual, M.D., Ph.D., is the inaugural holder of The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases and also holds the Ed and Sue Rose Distinguished Professorship in Neurology. His laboratory research interests span virtually the entire field of neuroscience, including medical neuroscience, from molecular structure and function (including drug action), neural physiology and metabolism at the cellular, circuit and whole-brain level and neurogenetics, all of which is complemented with neurological patient care and clinical trials. Laboratory research greatly influences his clinical activities and patient observations guide his laboratory research direction. As a clinician, Dr. Pascual specializes in genetic and metabolic diseases of the nervous and neuromuscular systems of infants, children, and adults with a particular emphasis on complex diagnostic problems, second opinions for patients visiting from the rest of the U.S. and abroad, and in clinical trials. Dr. Pascual has special clinical research expertise in undiagnosed and rare diseases, glucose metabolism, mitochondrial, degenerative, and multi-organ disorders. Dr. Pascual is a tenured faculty member in four Departments at UT Southwestern Medical Center: Neurology and Neurotherapeutics, Physiology, Pediatrics, and the Eugene McDermott Center for Human Growth & Development / Center for Human Genetics. He is also 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 teaches at UT Southwestern Medical School. In addition, Dr. Pascual is an adjunct professor in the Department of Biological Sciences at the School of Natural Sciences and Mathematics, The University of Texas at Dallas. Dr. Pascual directs a highly collaborative research laboratory and is credentialed campus-wide 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. Dr. Pascual received his M.D. degree with unique distinction from the Universidad de Granada, Spain, one of the oldest universities in the world, founded in 1349 by Yusuf I, Sultan of Granada and one of the builders of the Alhambra. He received his Ph.D. degree in Molecular Physiology and Biophysics from Baylor College of Medicine in Houston, Texas, under Arthur M. Brown, M.D., Ph.D., McCollum Professor and Chair. His postdoctoral research was conducted under Arthur Karlin, Ph.D., Higgins Professor and Director of the Center for Molecular Recognition, College of Physicians and Surgeons of Columbia University and, later, at the Colleen Giblin Research Laboratories for Pediatric Neurology at the same institution under a Neurological Sciences Academic Development Award from the National Institute of Neurological Disorders and Stroke. He also received residency training in Pediatrics at Washington University School of Medicine - St. Louis Children's Hospital and in Neurology and Pediatric Neurology at the Neurological Institute of New York - Columbia University Medical Center. 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 nation 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 (MRI) both in human subjects and in models of human diseases. His laboratory is located in the newest biomedical research building (NL) 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. Dr. Pascual has co-authored over two dozen scientific, medical and philosophical textbooks. He is the editor, together with Dr. Roger Rosenberg, of Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (5th and 6th editions, Academic Press). His textbook Progressive Brain Disorders in Childhood (Cambridge University Press) was published in 2017. He is working on a new book, provisionally entitled Sense & Nonsense in Medical Neuroscience: Inference & Fallacy, to be published by Cambridge University Press. An avid reader and speaker, Dr. Pascual is also interested in the philosophy of mind. He is particularly concerned with the proper study of the human condition. Thus, he is a critic of errors commonly made by cognitive neuroscientists. As a research and clinical neurogeneticist, he has also grown disillusioned with the current simplistic overreliance on genes as an explanation of biology or disease. Dr. Pascual has no interest in - nor is he sponsored by - any business that conducts medical research or lobbies for financial gain.

Affiliations and Expertise

The Once Upon a Time Foundation Professor in Pediatric Neurologic Diseases; Ed and Sue Rose Distinguished Professor in Neurology, Director, Rare Brain Disorders Clinic and Laboratory, Departments of Neurology and Neurotherapeutics, Physiology and Pediatrics; Eugene McDermott Center for Human Growth and Development/Center for Human Genetics, 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

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