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Author: Flora Tassone Publisher: Springer Science & Business Media ISBN: 9781441958051 Category : Medical Languages : en Pages : 188
Book Description
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.
Author: Flora Tassone Publisher: Springer Science & Business Media ISBN: 9781441958051 Category : Medical Languages : en Pages : 188
Book Description
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.
Author: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
Book Description
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Author: Flora Tassone Publisher: Springer ISBN: 3319338986 Category : Medical Languages : en Pages : 293
Book Description
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.
Author: Dalit Ben-Yosef Publisher: Humana Press ISBN: 9781493990795 Category : Science Languages : en Pages : 192
Book Description
This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Author: Montserrat Milà Publisher: Nova Science Publishers ISBN: 9781633219144 Category : Ataxia Languages : en Pages : 0
Book Description
The FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counselling, new-born screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counselling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.
Author: Anne Skomorowsky Publisher: Columbia University Press ISBN: 0231552289 Category : Medical Languages : en Pages : 118
Book Description
A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.
Author: Kay E. Davies Publisher: Oxford University Press, USA ISBN: Category : Language Arts & Disciplines Languages : en Pages : 150
Book Description
This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
Author: Sankara H. Subramony Publisher: Elsevier ISBN: 0444534946 Category : Medical Languages : en Pages : 680
Book Description
This volume’s primary goal is to provide a comprehensive understanding of recent developments and advancements in the study of ataxic disorders. Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies and neurological manifestations of ataxic disorders. Clinicians will gain a broader understanding of generative ataxias and the genetic disorders associated with them. In addition, new neurophysiological and imaging techniques are discussed, along with an in-depth examination of the treatment and management protocols of ataxic diseases. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Author: Isabel Fernández Carvajal Publisher: Jessica Kingsley Publishers ISBN: 1843109913 Category : Health & Fitness Languages : en Pages : 114
Book Description
Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome.
Author: Flora Tassone
Author: Flora Tassone
Author: John C. Carey
Author: Flora Tassone
Author: Dalit Ben-Yosef
Author: Montserrat Milà
Author: Simon Shorvon
Author: Anne Skomorowsky
Author: Kay E. Davies
Author: Sankara H. Subramony
Author: Isabel Fernández Carvajal