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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
- 5th Edition - October 28, 2014
- Editors: Roger N. Rosenberg, Juan M. Pascual
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 4 1 0 5 2 9 - 4
- eBook ISBN:9 7 8 - 0 - 1 2 - 4 1 0 5 4 9 - 2
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key pract… Read more
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Request a sales quoteRosenberg’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.
- 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
Introduction to the 5th Edition Roger N. Rosenberg and Juan M. Pascual
Section I. GENERAL CONCEPTS AND TOOLS 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 Kukull8. Gene Therapy for Neurological Disease Theodore Friedmann9. Direct induction of neural stem cells from somatic cells Hideyuki Okano10. 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
Section II. NEUROLOGIC DISEASES13. 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
NEUROMETABOLIC DISORDERSMitochondrial Disorders22. The Mitochondrial Genome Eric A. Schon23. 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 Chinnery25. Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle and mitochondrial transport disorders Mireia Tondo, Isaac Marin-Valencia, Qian Ma and Juan M. Pascual
Lysosomal Disorders26. Gaucher Disease – Neuronopathic Forms Raphael Schiffmann27. 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. Eichler30. 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. Johnson34. Beta-Galactosidase Deficiency: GM1 Gangliosidosis, Morquio B Disease William G. Johnson35. 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. Desnick39. Schindler Disease: Deficient-N-Acetylgalactosaminidase Activity Detlev Schindler and Robert J. Desnick
Metal Metabolism Disorders40. Wilson Disease Golder North Wilson41. Menkes disease and other ATP7A disorders Juan M. Pascual and John H. Menkes42. Neurodegeneration with Brain Iron Accumulation Susanne A. Schneider43. Pantothenate-kinase associated neurodegeneration Michael C. Kruer44. Disorders of manganese transport Isaac Marin-Valencia45. 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 disorders50. 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 Disorders53. Organic acid disorders Margretta Reed Seashore54. Glycogen Storage Diseases Salvatore DiMauro and Hasan Orhan Akman 55. Disorders of Galactose Metabolism Gerard T. Berry56. 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. Patterson61. Disorders of Glutathione Metabolism Koji Aoyama and Toshio Nakaki 62. Canavan Disease Reuben Matalon63. Neurotransmitter disorders Á. García-Cazorla and R. Artuch 64. Peroxisomal Disorder Gerald V. Raymond65. Disorders of Purine Metabolism William L. Nyhan66. The Porphyrias D. Montgomery Bissell
DEGENERATIVE DISORDERS67. Alzheimer's disease Dennis J. Selkoe68. 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
MOVEMENT DISORDERS71. The Inherited ataxias Roger N. Rosenberg and Pravin Khemani 72. Friedreich ataxia Massimo Pandolfo73. Ataxia-telangiectasia Shuki Mizutani74. 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
NEURO-ONCOLOGY78. Glioblastoma Elizabeth Maher and Robert Bachoo
NEUROCUTANEOUS DISORDERS79. 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
EPILEPSY84. The Genetic Epilepsies Robert Macdonald and Martin J Gallagher
WHITE MATTER DISEASES85. Multiple sclerosis Stephen Lawrence Hauser, Jorge R. Oksenberg and Sergio E. Baranzini 86. Vanishing White Matter Disease Orna Elroy-Stein and Raphael Schiffmann
NEUROPATHIES AND NEURONOPATHIES:87. The Genetics of Amyotrophic Lateral Sclerosis Jemeen Sreedharan and Robert Brown88. 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
MUSCLE AND NEUROMUSCULAR JUNCTION DISORDERS 91. Dystrophinopathies Eric P. Hoffman92. 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 Tawil98. Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias Jeffrey Ralph and Louis Ptáček 99. Congenital Myasthenic Syndromes Andrew G. Engel
STROKE100. Cerebral Vasculopathies Michael M. Dowling101. Coagulopathies Fenella Jane Kirkham102. Sickle Cell Disease Fenella Jane Kirkham
Section III. PSYCHIATRIC DISEASE103. 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
Section IV. A NEUROLOGIC AND PSYCHIATRIC GENE MAP109. A Neurologic Gene Map Saima N. Kayani, Kathleen S. Wilson and Roger N. Rosenberg
- No. of pages: 1464
- Language: English
- Edition: 5
- Published: October 28, 2014
- Imprint: Academic Press
- Hardback ISBN: 9780124105294
- eBook ISBN: 9780124105492
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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, USAJP
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
Dept Neurology and Neurotherapeutics, Physiology and Pediatrics; McDermott Ctr for Human Growth and Dev/Ctr for Human Genetics, Univ of Texas Southwestern Medical Ctr, Dallas, TX, USARead Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease on ScienceDirect