In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.

Covering a wide range of diverse age-related disorders, Degenerative Disorders of the Brain addresses disabilities that occur or have their roots in the later stages of life. The book brings together an internationally recognised group of contributors to discuss frontostriatal, fronto-cerebellar and other major brain systems and structures which control and direct normal behaviour, and which can fail during the aging process, as well as addressing behavioural, clinical, pathophysiological and technical aspects. Discussing the latest clinical and behavioural findings of disorders which are largely, though not necessarily entirely, age related, including Alzheimer’s disease and other dementias, Parkinson’s disease and related disorders, and Huntington’s disease, the book covers information vital to the understanding, diagnosis, and management of degenerative disorders of the brain. It also considers the role of epigenetics, neural plasticity, and environmental enrichment in neurodegenerative disorders alongside the role of ground-breaking intervention methods, including transcranial magnetic stimulation and deep brain stimulation. Degenerative Disorders of the Brain will be of great interest to, and use for, clinicians, researchers, students, lecturers, and affected individuals and their relatives.

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge. Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam Assists trainees on how to follow guidelines and put them in practice

Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. - Contributions by most of the principal research teams in the area, edited by world-renowned leaders - Lays the background for future investigations on related diseases

The Encyclopedia of the Neuroscience explores all areas of the discipline in its focused entries on a wide variety of topics in neurology, neurosurgery, psychiatry and other related areas of neuroscience. Each article is written by an expert in that specific domain and peer reviewed by the advisory board before acceptance into the encyclopedia. Each article contains a glossary, introduction, a reference section, and cross-references to other related encyclopedia articles. Written at a level suitable for university undergraduates, the breadth and depth of coverage will appeal beyond undergraduates to professionals and academics in related fields.

This issue of the Neurologic Clinics is being edited by the series Consulting Editor, Dr. Randolph Evans, and will be a special issue focusing on patient case studies of a board range of neurological diseases and disorders. Topics and cases covered include, but are not limited to: cerebrovascular disease, multiple sclerosis, syncope, epilepsy, tremor, dementia, neurologic issues in pregnancy, and medicolegal cases.

RNA-based Regulation in Human Health and Disease offers an in-depth exploration of RNA mediated genome regulation at different hierarchies. Beginning with multitude of canonical and non-canonical RNA populations, especially noncoding RNA in human physiology and evolution, further sections examine the various classes of RNAs (from small to large noncoding and extracellular RNAs), functional categories of RNA regulation (RNA-binding proteins, alternative splicing, RNA editing, antisense transcripts and RNA G-quadruplexes), dynamic aspects of RNA regulation modulating physiological homeostasis (aging), role of RNA beyond humans, tools and technologies for RNA research (wet lab and computational) and future prospects for RNA-based diagnostics and therapeutics. One of the core strengths of the book includes spectrum of disease-specific chapters from experts in the field highlighting RNA-based regulation in metabolic & neurodegenerative disorders, cancer, inflammatory disease, viral and bacterial infections. We hope the book helps researchers, students and clinicians appreciate the role of RNA-based regulation in genome regulation, aiding the development of useful biomarkers for prognosis, diagnosis, and novel RNA-based therapeutics. Comprehensive information of non-canonical RNA-based genome regulation modulating human health and disease Defines RNA classes with special emphasis on unexplored world of noncoding RNA at different hierarchies Disease specific role of RNA - causal, prognostic, diagnostic and therapeutic Features contributions from leading experts in the field