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

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

Volume 1

5th Edition - October 28, 2014

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  • Editors: Roger N. Rosenberg, Juan M. Pascual
  • eBook ISBN: 9780124105492

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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

Product details

  • No. of pages: 1464
  • Language: English
  • Copyright: © Academic Press 2014
  • Published: October 28, 2014
  • Imprint: Academic Press
  • eBook ISBN: 9780124105492

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

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