Fxtas Fxpoi And Other Premutation Disorders PDF Download
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| Author | : Flora Tassone |
| Publisher | : Springer |
| Total Pages | : 296 |
| Release | : 2016-11-17 |
| Genre | : Medical |
| ISBN | : 3319338986 |
Download FXTAS, FXPOI, and Other Premutation Disorders Book in PDF, ePub and Kindle
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 | : Randi Hagerman |
| Publisher | : Mac Keith Press |
| Total Pages | : 660 |
| Release | : 2020-12-21 |
| Genre | : Medical |
| ISBN | : 9781911612377 |
Download Fragile X Syndrome and Premutation Disorders Book in PDF, ePub and Kindle
This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND problems. The main focus is to help clinicians to give the best care possible to patients with FXS and to understand a multidisciplinary treatment approach. Underserved populations such as babies and toddlers with FXS and mothers with the full mutation are highlighted, including the treatments that can be beneficial to them. This book also discuss fragile X associated disorders as they impact the family whose proband has FXS. A highlight of this book is the international perspective on how different cultures deal with FXS and targeted treatments.
| Author | : Montserrat Milà |
| Publisher | : Nova Science Publishers |
| Total Pages | : 151 |
| Release | : 2015 |
| Genre | : Ataxia |
| ISBN | : 9781634633147 |
Download Allelic Forms of the FMR1 Gene Book in PDF, ePub and Kindle
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 counseling, newborn 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 counseling 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 |
| Total Pages | : 118 |
| Release | : 2022-05-03 |
| Genre | : Medical |
| ISBN | : 0231552289 |
Download The Carriers Book in PDF, ePub and Kindle
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 | : Randi Jenssen Hagerman |
| Publisher | : |
| Total Pages | : 481 |
| Release | : 1996 |
| Genre | : Fragile X syndrome |
| ISBN | : 9780801853883 |
Download Fragile X Syndrome Book in PDF, ePub and Kindle
This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
| Author | : |
| Publisher | : |
| Total Pages | : 148 |
| Release | : |
| Genre | : |
| ISBN | : 9587658272 |
Download Book in PDF, ePub and Kindle
| Author | : Carlo Sala |
| Publisher | : Academic Press |
| Total Pages | : 396 |
| Release | : 2016-04-30 |
| Genre | : Medical |
| ISBN | : 0128005335 |
Download Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book in PDF, ePub and Kindle
Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
| Author | : Gregory O'Brien |
| Publisher | : Cambridge University Press |
| Total Pages | : 236 |
| Release | : 1995 |
| Genre | : Medical |
| ISBN | : 9781898683063 |
Download Behavioural Phenotypes Book in PDF, ePub and Kindle
A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
| Author | : Dalit Ben-Yosef |
| Publisher | : Humana Press |
| Total Pages | : 192 |
| Release | : 2019-03-08 |
| Genre | : Science |
| ISBN | : 9781493990795 |
Download Fragile-X Syndrome Book in PDF, ePub and Kindle
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 | : Jennifer A. Accardo |
| Publisher | : Springer |
| Total Pages | : 391 |
| Release | : 2018-12-13 |
| Genre | : Medical |
| ISBN | : 3319984144 |
Download Sleep in Children with Neurodevelopmental Disabilities Book in PDF, ePub and Kindle
This practical guide presents approaches to working with children and adolescents with neurodevelopmental disabilities who have sleep problems. Divided into four sections, the book begins with the impact of sleep problems in children with disabilities and the evaluation of sleep complaints. The next two sections cover the major categories of sleep disorders as they apply in children with disabilities, and specific neurodevelopmental disabilities with their characteristic sleep manifestations. The last section details options for treatment, which include behavioral and environmental strategies, occupational therapy, exercise, and medications. Chapters feature case studies that introduce and reinforce diagnostic and therapeutic approaches. Those engaged in the care of children with neurodevelopmental disabilities and sleep problems will find this text to be an invaluable guide when assessing and treating sleep disorders.
