Huntington’s Chorea


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.




Internal Medicine


Book Description

This very well-received book, now in its second edition, equips the radiologist with the information needed in order to diagnose internal medicine disorders and their complications from the radiological perspective. It offers an easy-to-consult tool that documents the most common and most important radiological signs of a wide range of diseases, across diverse specialties, with the aid of an excellent gallery of images and illustrations. Compared with the first edition, numerous additions and updates have been made, with coverage of additional disorders and inclusion of many new images. Entirely new chapters focus on occupational medicine and toxicology imaging, chiropractic medicine, and energy and quantum medicine. Internal Medicine – An Illustrated Radiological Guide puts the radiologist in the internal medicine physician’s shoes. It teaches radiologists how to think in terms of disease progression and complications, explains where to look for and to image these complications, and identifies the best modalities for reaching a diagnosis. It will also benefit internal medicine physicians by clarifying the help that radiology can offer them and assisting in the choice of investigation for diagnostic confirmation.




The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy


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.







Hyperkinetic Movement Disorders


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.




The Woman Who Walked into the Sea


Book Description

A groundbreaking medical and social history of a devastating hereditary neurological disorder once demonized as “the witchcraft disease” When Phebe Hedges, a woman in East Hampton, New York, walked into the sea in 1806, she made visible the historical experience of a family affected by the dreaded disorder of movement, mind, and mood her neighbors called St.Vitus's dance. Doctors later spoke of Huntington’s chorea, and today it is known as Huntington's disease. This book is the first history of Huntington’s in America. Starting with the life of Phebe Hedges, Alice Wexler uses Huntington’s as a lens to explore the changing meanings of heredity, disability, stigma, and medical knowledge among ordinary people as well as scientists and physicians. She addresses these themes through three overlapping stories: the lives of a nineteenth-century family once said to “belong to the disease”; the emergence of Huntington’s chorea as a clinical entity; and the early-twentieth-century transformation of this disorder into a cautionary eugenics tale. In our own era of expanding genetic technologies, this history offers insights into the social contexts of medical and scientific knowledge, as well as the legacy of eugenics in shaping both the knowledge and the lived experience of this disease.




Neuroacanthocytosis Syndromes


Book Description

Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.




The Differential Diagnosis of Chorea


Book Description

"The Differential Diagnosis of Chorea provides a comprehensive account of the various neurological conditions, both genetic and acquired, that lead to this involuntary movement disorder.




Genetic Twists of Fate


Book Description

How tiny variations in our personal DNA can determine how we look, how we behave, how we get sick, and how we get well. News stories report almost daily on the remarkable progress scientists are making in unraveling the genetic basis of disease and behavior. Meanwhile, new technologies are rapidly reducing the cost of reading someone's personal DNA (all six billion letters of it). Within the next ten years, hospitals may present parents with their newborn's complete DNA code along with her footprints and APGAR score. In Genetic Twists of Fate, distinguished geneticists Stanley Fields and Mark Johnston help us make sense of the genetic revolution that is upon us. Fields and Johnston tell real life stories that hinge on the inheritance of one tiny change rather than another in an individual's DNA: a mother wrongly accused of poisoning her young son when the true killer was a genetic disorder; the screen siren who could no longer remember her lines because of Alzheimer's disease; and the president who was treated with rat poison to prevent another heart attack. In an engaging and accessible style, Fields and Johnston explain what our personal DNA code is, how a few differences in its long list of DNA letters makes each of us unique, and how that code influences our appearance, our behavior, and our risk for such common diseases as diabetes or cancer.




Huntington's Disease


Book Description

Huntington's Disease is a genetically inherited condition, the result of severe nerve-cell damage in the brain. Due to the recent identification of the gene involved, and the debilitating nature of the disease, a great many more people are now affected either directly or indirectly (familiesand carers) by this condition. The majority of people develop the disease between the ages of 35 and 55, so for those that are aware of a genetic inheritance, there are enormous problems to confront - should you carry on life as normal? Should you start a family? In this, the first book onHuntington's disease written for sufferers and their families, advice is given on living with this disabling illness. Written as much for carers as for the patients themselves, the book aims to answer some of the questions that both sufferer and carer might have. With the identification of theresponsible gene, genetic counselling is now available for those at risk of developing the disease. Though some may wish not to use these services, the book clearly explains the role of the counsellor, and what help is additionally available from the various patient organisations worldwide.