Huntington Disease

Book Description :

Huntington's disease affects 1 person in 10,000 but this figure is an underestimate because the immediate carer, spouse/partner and the close relatives at risk of developing this condition in the future are also affected. The new edition has been revised to include important new developments that have occurred in the field in recent years.

Book Description :

In 1993, the genetic mutation responsible for Huntington’s disease (HD) was identified. Considered a milestone in human genomics, this discovery has led to nearly two decades of remarkable progress that has greatly increased our knowledge of HD, and documented an unexpectedly large and diverse range of biochemical and genetic perturbations that seem to result directly from the expression of the mutant huntingtin gene. Neurobiology of Huntington’s Disease: Applications to Drug Discovery presents a thorough review of the issues surrounding drug discovery and development for the treatment of this paradigmatic neurodegenerative disease. Drawing on the expertise of key researchers in the field, the book discusses the basic neurobiology of Huntington’s disease and how its monogenic nature confers enormous practical advantages for translational research, including the creation of robust experimental tools, models, and assays to facilitate discovery and validation of molecular targets and drug candidates for HD. Written to support future basic research as well as drug development efforts, this volume: Covers the latest research approaches in genetics, genomics, and proteomics, including high-throughput and high-content screening Highlights advances in the discovery and development of new drug therapies for neurodegenerative disorders Examines the practical realities of preclinical testing, clinical testing strategies, and, ultimately, clinical usage While the development of effective drug treatments for Huntington's disease continues to be tremendously challenging, a highly interactive and cooperative community of researchers and clinical investigators now brings us to the threshold of potential breakthroughs in the quest for therapeutic agents. The impressive array of drug discovery resources outlined in the text holds much promise for treating this devastating disease, providing hope to long-suffering Huntington’s disease patients and their families.

Book Description :

Download A Physician s Guide to the Management of Huntington s Disease book written by Adam Rosenblatt, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

Download Huntington s Disease book written by National Institutes of Health (U.S.), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

This detailed book provides a laboratory manual and guidebook for the selection, implementation, and interpretation of a wide range of techniques in contemporary use in leading laboratories engaged in Huntington’s disease (HD) research worldwide. Only by understanding the pathology and pathogenic process at the fundamental molecular and cellular level can the research community expect to be able to slow or halt the disease process, repair the damage, and develop novel effective therapies to treat the symptoms of this condition, thus this volume collects the practical knowledge of its authors. Written for the highly successful Methods in Molecular Biology series, 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. Authoritative and invaluable, Huntington’s Disease: Methods and Protocols aims to help scientists to significantly extend the breadth and quality of research in laboratories dedicated to mastering and controlling this devastating human condition.

Book Description :

Download Huntington s Disease Huntington s Chorea book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

Hyperkinetic movement disorders comprise a range of diseases characterized by unwanted and uncontrollable, or poorly controllable, involuntary movements. The phenomenology of these disorders is quite variable encompassing chorea, tremor, dystonia, myoclonus, tics, other dyskinesias, jerks and shakes. Discerning the underlying condition can be very difficult given the range and variability of symptoms. But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. The stellar international cast of authors distils the evidence so you can apply it into your practice. The judicious use of diagnostic criteria algorithms rating scales management guidelines Provides a robust framework for clear patient management. Throughout the text, QR codes* provide smartphone access to case-study videos of hyperkinetic symptoms. Purchase includes an enhanced Wiley Desktop Edition.* This is an interactive digital version featuring: all text and images in fully searchable form integrated videos of presentations View a sample video: www.wiley.com/go/albanese highlighting and note taking facilities book marking linking to additional references Hyperkinetic Movement Disorders provides you with the essential visual and practical tools you need to effectively diagnose and treat your patients. *Full instructions for using QR codes and for downloading your digital Wiley DeskTop Edition are inside the book.

Book Description :

This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.

Book Description :

Can You Help Me?: Living in the Turbulent World of Huntington Disease shares the surprising, insightful, challenging, and even encouraging stories of patients and their families who live with Huntington Disease. Having seen patients for more than 40 years, Dr Thomas Bird, a pioneer neurogeneticist, adds a human touch to this genetic brain disease that devastates persons during mid-life when they can least afford it. With a brief history of Huntington Disease and the occasional scientific detail, the true heart of the book is the human experience of the disorder: � The man who cannot stay out of prison because he is addicted to being a burglar. � Another man shoots and kills his roommate while watching television and cannot explain why he did it. � The woman with Huntington Disease copes with her depression by using Texas line dancing. � A twelve year old girl with juvenile Huntington Disease who can barely walk and talk, but her classmates rally around with touching and heartfelt support. � And the 72 year old man with late onset Huntington Disease and severe depression is made worse by ECT, but improved (for a while) with Transcranial Magnetic Stimulation. These are just some of the compelling stories of people of all ages and in all walks of life who feel trapped by a progressive degenerative brain disease from which there is no escape.

Book Description :

A New York Times bestseller ▪ A Library Journal Best Books of 2015 Pick ▪ A St. Louis Post-Dispatch Best Books of 2015 Pick ▪A GoodReads Top Ten Fiction Book of 2015 ▪ A People Magazine Great Read From New York Times bestselling author and neuroscientist Lisa Genova comes a “heartbreaking…very human novel” (Matthew Thomas, author of We Are Not Ourselves) that does for Huntington’s disease what her debut novel Still Alice did for Alzheimer’s. Joe O’Brien is a forty-three-year-old police officer from the Irish Catholic neighborhood of Charlestown, Massachusetts. A devoted husband, proud father of four children in their twenties, and respected officer, Joe begins experiencing bouts of disorganized thinking, uncharacteristic temper outbursts, and strange, involuntary movements. He initially attributes these episodes to the stress of his job, but as these symptoms worsen, he agrees to see a neurologist and is handed a diagnosis that will change his and his family’s lives forever: Huntington’s disease. Huntington’s is a lethal neurodegenerative disease with no treatment and no cure, and each of Joe’s four children has a 50 percent chance of inheriting their father’s disease. While watching her potential future in her father’s escalating symptoms, twenty-one-year-old daughter Katie struggles with the questions this test imposes on her young adult life. As Joe’s symptoms worsen and he’s eventually stripped of his badge and more, Joe struggles to maintain hope and a sense of purpose, while Katie and her siblings must find the courage to either live a life “at risk” or learn their fate. Praised for writing that “explores the resilience of the human spirit” (San Francisco Chronicle), Lisa Genova has once again delivered a novel as powerful and unforgettable as the human insights at its core.

Book Description :

Food and Huntington's Disease is another book in a series of books related to the benefits of food on brain function. This book designates the possible beneficial effects of edible natural products and their active materials on Huntington's disease. This is a progressive neurodegenerative disease that could cause uncontrolled movements, cognitive difficulties and emotional disturbances. The aim of this book and its series is to create awareness in general audiences about the dietary perception to reduce the occurrence of Huntington's disease. This may enable a better understanding and possibly reduce the cost on medical bills for patients (approximately $4500/year/person) and the insurance companies. Literature revealed that this disturbing neurodegenerative disorder has a higher prevalence in Europe (3-7 in 100,000), North America (4-5 in 100,000), and Australia than in Asian countries. Studies suggest that mutation in the HD gene and the repeat expansion play an important role in the pathophysiology of this disease. The genetic defect underlying Huntington's disease is unstable, caused by an abnormal CAG expansion within the first exon of the Huntingtin gene (HTT), leading to an expanded polyglutamine (polyQ) track in the HTT protein. This disease is an inherited one. Even though the prevalence rate is moderate, scientists predict that a lot of people possess the possibility of carrying this disease. Mitochondrial dysfunction and oxidative stress could very highly play a role in this disease. In the last decade, the benefits of food on many diseases - including brain diseases - were explored. This book aims to summarize the recent updates on the benefit of natural edible materials and their active principles on the prevention or delaying of the progression or the management of this disease. The editors feel highly obligated to all the contributors for this initiative. Undeniably, they believe that the information provided in this book would raise the awareness of the readers and could possibly help them to understand the disease process and the benefits of food items on Huntington's' disease management.

Book Description :

Most textbooks on neurodegenerative disorders have used a classification scheme based upon either clinical syndromes or anatomical distribution of the pathology. In contrast, this book looks to the future and uses a classification based upon molecular mechanisms, rather than clinical or anatomical boundaries. Major advances in molecular genetics and the application of biochemical and immunocytochemical techniques to neurodegenerative disorders have generated this new approach. Throughout most of the current volume, diseases are clustered according to the proteins that accumulate within cells (e.g. tau, α-synuclein and TDP-43) and in the extracellular compartments (e.g. β-amyloid and prion proteins) or according to a shared pathogenetic mechanism, such as trinucleotide repeats, that are a feature of specific genetic disorders. Chapters throughout the book conform to a standard lay-out for ease of access by the reader and are written by a panel of International Experts Since the first edition of this book, major advances have been made in the discovery of common molecular mechanisms between many neurodegenerative diseases most notably in the frontotemporal lobar degenerations (FTLD) and motor neuron disease or amyotrophic lateral sclerosis. This book will be essential reading for clinicians, neuropathologists and basic neuroscientists who require the firm up-to-date knowledge of mechanisms, diagnostic pathology and genetics of Neurodegenerative diseases that is required for progress in therapy and management.

Book Description :

Huntington's disease is a progressive neurodegenerative disorder of the brain. It is one of the quite devastating and currently incurable human conditions. Degeneration of specific types of neurons in the brain results in a triad of clinical features: serious behavioral disturbances, uncontrolled movements of body parts, and deterioration of intellectual capabilities. The underlying complex mechanisms and molecular players of the cellular cascades still need to be deciphered in detail despite considerable advances. Once solved, the related molecular mechanisms will not only enlighten the HD story but will also shed light on other polyglutamine diseases and similar brain disorders. This book, Huntington's Disease-Molecular Pathogenesis and Current Models, is planned to cover recent scientific achievements in understanding the cellular mechanisms of HD. The chapters provide comprehensive description of the key issues in HD research. In this regard, this book will serve as a source for clinicians and researchers in the field and also for life science readers in increasing their understanding and awareness of the clinical correlates, genetic aspects, neuropathological findings, and potential therapeutic interventions related to HD.

Book Description :

Huntington's Disease (HD), is a hereditary illness passed on via a defective gene. This book offers one family's poignant story of coping with the symptoms, the diagnosis and the effects of HD. It also presents the struggles and strengths of the whole family when one member loses their future to a terminal illness.

Book Description :

The NMDA receptor plays a critical role in the development of the central nervous system and in adult neuroplasticity, learning, and memory. Therefore, it is not surprising that this receptor has been widely studied. However, despite the importance of rhythms for the sustenance of life, this aspect of NMDAR function remains poorly studied. Written by one of the world’s leading authorities on NMDA receptors, Biology of the NMDA Receptor brings together virtually all the players in this important field.

Book Description :

Download Understanding Behavior in Huntington s Disease book written by Jane S. Paulsen,Huntington's Disease Society of America (New York, N.Y.), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

It is a pleasure to send Dr. Hayden's monograph on its way to as yet unknown but hopefully widespread destinations with all the valedictions a Foreword may contain. Since I met the author in Cape Town in 1978 I have been struck, on numerous occasions, by the fortuitous combination of an inquisitive mind, a creative drive, a sharp awareness of the historical and social setting of phenomena, and a solid discipline which his personality displays behind a good-natured laugh. If a tree is known by its fruits, both Dr Hayden's PhD thesis and the present monograph afford quite an insight into the auctor intellectualis. The amalgamation of the terrible mise ry behind scientifIc facts and the elegantly artistic presentation of this book will leave none of its readers unperturbed. It reminds me of Nietzsche's 'Denn das Schöne ist nichts als des Schrecklichen Anfang, und wir bewundern es so weil es gelassen verschmäht uns zu zerstören' (Beauty is but Horror's beginning, and we admire it because it resignedly spurns to destroy us). The book is a denial, a testimony against Juvenal's spurious 'Sternmata quid faciunt ... ' (of what value are pedigrees). For it is the very genetical prolongation of misery over the centuries that brought Huntington's chorea to South Africa, Australia and the USA from the shores of sea-faring seventeenth-century England and Holland.

Book Description :

From the day Cobb and Mary meet kayaking on Maine's Allagash River and fall deeply in love, the two approach life with the same sense of adventure they use to conquer the river's treacherous rapids. But rivers do not let go so easily...and neither does their love. So when Mary's life takes the cruelest turn, she vows to face those rough waters on her own terms and asks Cobb to promise, when the time comes, to help her return to their beloved river for one final journey. Set against the rugged wilderness of Maine, the exotic islands of Indonesia, the sweeping panoramas of Yellowstone National Park, and the tranquil villages of rural New England, Eternal on the Wateris at once heartbreaking and uplifting -- a timeless, beautifully rendered story of true love's power.

Book Description :

Huntington Disease summarizes the most recent findings related to the disease, providing both cutting edge coverage for clinical/research specialists looking to expand their knowledge base of Huntington disease information, as well as solid groundwork for advanced students from various backgrounds (neurology, psychiatry, neuropsychology, genetics). The volume includes all major areas of Huntington disease clinical care and research, whereas many other HD texts focus solely on neurological symptoms. This book also addresses behavioral and cognitive symptoms, brain imaging, and family dynamics and therapeutic alliances in working with individuals affected by HD. Clinical trials are covered extensively, including design considerations for therapeutic studies. The devastating nature of Huntington’s disease is well appreciated throughout the neuroscience, neurology, and psychiatric communities, and a great amount of basic and clinical research is currently taking place. However, much of that occurs in isolated research silos, and it is critical that an interdisciplinary resource be developed to provide in depth information to enhance communication and collaboration. This volume in the Handbook of Clinical Neurology series is that resource. Includes coverage of both basic science and clinical aspects of the disease, as well as treatment, experimental therapeutics, and biomarkers Provides an essential resource for the non-neurologist, including necessary background for understanding the disease before making a more detailed study proposal Provides an interdisciplinary approach that can be applied in everyday clinic and research efforts Features chapters edited by leaders in the field around the globe—the broadest expert coverage available

Book Description :

In the midst of this turmoil, Barema, a French journalist, discovers that his younger sister also has Huntington's. Beset by depression, suicidal thoughts and fears for his children, fear of passing on "this H-bomb," he's sustained by talks with a gifted neurologist and his wife's love. He finally breaks free of his paralyzing anguish and decides to be tested. To heighten his pain during the month-long waiting period for the results, his father dies suddenly. The agony surrounding the author's concern for his siblings mixed with an ever-present fear for himself is movingly evoked in this brief, intense book."--Publishers Weekly.