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This book is a contemporary statement of what is known about morphological development of the normal and abnormal human nervous system and puts into perspective the continued importance of changes that occur in the course of foetal development and how these processes may become defective. The first part of the book deals with the development of the central nervous system (CNS) from a morphological point of view including data from the fields of biochemistry, immunology and genetics. The second part reviews the genetic and nongenetic etiology of abnormal CNS development and discusses throughly all patologic syndromes that are related to disturbances of brain development. With the rapid progress in such modern branches of science as neurochemistry, genetics and molecular biology, this book will be invaluable for researchers working in these fields.
This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.
The idea for this book developed during the course of several discussions among the editors while we were working together as staff scientists in the laboratories of the Clinical Neuro science Branch of the National Institute of Mental Health. It was a happy coincidence that the three of us, child psychiatrists with predominantly clinical interests, selected a collaborative bench research project involving neurotransmitter receptor characterization and regulation. We appreciated the relevance of our work to child psychiatry and wished for a forum to share the excitement we enjoyed in the laboratory with our clinical colleagues. Moreover, it seemed to us that much of the pharmacological resea...
People with Down Syndrome show a specific developmental profile with strengths in social understanding and visual learning and memory, and more difficulties with motor processes, speech and language, and auditory-vocal short-term memory. It is important that parents, practitioners and teachers know this and adapt interventions and educational approaches to take account of this particular profile. This is the only book to date that explains the developmental profile of people with Down Syndrome from its many different angles. It covers a range of perspectives, including the biology, psychology, speech and language, health care, and social competence of both children and adults with Down Syndrome. All the information is gathered and placed in the context of the neuro-genetic science that is developing around this area.
The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
This book is devoted to the description of agenesis of the corpus callosum, a congenital malformation of midline structures in the brain that may be regarded as a natural model of the "split-brain. " First reported by Rei! in 1812, this anomaly has since been described by several investigators. Interest in this malformation was revived in the 1970s by studies of interhemispheric transfer in Bogen and Vogel's commissurotomized patients and the subsequent findings by Sperry that acallosal patients were devoid of the typical disconnection deficits found in patients with surgical transection of the corpus callosum. Since this seminal work, the bulk of neuropsychological research on callosal agen...
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