Juvenile Onset Huntingtons Disease PDF Download
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| Author | : Peggy C. Nopoulos |
| Publisher | : MDPI |
| Total Pages | : 102 |
| Release | : 2021-01-14 |
| Genre | : Science |
| ISBN | : 3039438115 |
Download Juvenile Onset Huntington's Disease Book in PDF, ePub and Kindle
The Special Issue “Juvenile Onset Huntington’s Disease” highlights the growing interest in understanding the unique aspects of this ultra-rare disorder. After decades of research, gene therapy trials are underway for Adult Onset Huntington’s Disease (AOHD). However, patients with Juvenile Onset Huntington’s Disease (JOHD) are often excluded from these efforts, leaving many questions regarding its phenomenology. The current issue includes seven articles spanning work on the difficult emotional experiences of parents of children with JOHD; a review of the clinical manifestations of JOHD; behavioral issues in JOHD; CAG repeat and age of motor onset; autonomic nervous system dysfunction; and abnormality in MRI metabolic markers. Finally, a review of the therapeutic advances is included, highlighting future possibilities of clinical trials in JOHD subjects. The HD community—patients, family members at-risk for HD, caregivers, health-care professionals and scientists—is keen on expanding our understanding of JOHD. In the flurry of research on AOHD, those with JOHD were seemingly ‘left behind.’ The study of patients who are afflicted early in life with HD has become imperative, with this Special Issue representing just the beginning of the required effort to address this urgent need.
| Author | : Oliver W. J. Quarrell |
| Publisher | : OUP Oxford |
| Total Pages | : 224 |
| Release | : 2009-01-08 |
| Genre | : Medical |
| ISBN | : 0191575283 |
Download Juvenile Huntington's Disease Book in PDF, ePub and Kindle
Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems including seizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clinicians to recognise the characteristic features of the condition. While several textbooks have been published on HD, no books have been published to date focussing solely on the juvenile onset form of the disease. This book summarises, for the first time, the clinical and scientific knowledge available on JHD. It also collects together accounts from families affected by the condition, putting the clinical and scientific chapters into context. Edited by members of the working group on Juvenile Huntington's Disease within the European Huntington Disease Network (EHDN), this book forms the first comprehensive text on JHD and is of interest to neurologists, geneticists, academic/research scientists and other healthcare professionals.
| Author | : Peggy C. Nopoulos |
| Publisher | : |
| Total Pages | : 102 |
| Release | : 2021 |
| Genre | : |
| ISBN | : 9783039438129 |
Download Juvenile Onset Huntington's Disease Book in PDF, ePub and Kindle
The Special Issue “Juvenile Onset Huntington's Disease” highlights the growing interest in understanding the unique aspects of this ultra-rare disorder. After decades of research, gene therapy trials are underway for Adult Onset Huntington's Disease (AOHD). However, patients with Juvenile Onset Huntington's Disease (JOHD) are often excluded from these efforts, leaving many questions regarding its phenomenology. The current issue includes seven articles spanning work on the difficult emotional experiences of parents of children with JOHD; a review of the clinical manifestations of JOHD; behavioral issues in JOHD; CAG repeat and age of motor onset; autonomic nervous system dysfunction; and abnormality in MRI metabolic markers. Finally, a review of the therapeutic advances is included, highlighting future possibilities of clinical trials in JOHD subjects. The HD community--patients, family members at-risk for HD, caregivers, health-care professionals and scientists--is keen on expanding our understanding of JOHD. In the flurry of research on AOHD, those with JOHD were seemingly 'left behind.' The study of patients who are afflicted early in life with HD has become imperative, with this Special Issue representing just the beginning of the required effort to address this urgent need.
| Author | : Udo Rüb |
| Publisher | : Springer |
| Total Pages | : 154 |
| Release | : 2015-09-29 |
| Genre | : Medical |
| ISBN | : 331919285X |
Download The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy Book in PDF, ePub and Kindle
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.
| Author | : Alberto Albanese |
| Publisher | : John Wiley & Sons |
| Total Pages | : 413 |
| Release | : 2012-03-07 |
| Genre | : Medical |
| ISBN | : 1444346164 |
Download Hyperkinetic Movement Disorders Book in PDF, ePub and Kindle
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.
| Author | : Julia Marie Artigliere-Cavalier |
| Publisher | : |
| Total Pages | : 290 |
| Release | : 1989 |
| Genre | : Huntington's disease |
| ISBN | : |
Download A Model for the Early Identification of Individuals with Juvenile Onset Huntington's Disease Book in PDF, ePub and Kindle
| Author | : Thomas D. Bird |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 289 |
| Release | : 2019 |
| Genre | : Medical |
| ISBN | : 0190684224 |
Download Can You Help Me? Book in PDF, ePub and Kindle
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.
| Author | : Oliver W J Quarrell |
| Publisher | : OUP Oxford |
| Total Pages | : 165 |
| Release | : 2008-02-28 |
| Genre | : Health & Fitness |
| ISBN | : 0191607371 |
Download Huntington's Disease Book in PDF, ePub and Kindle
Huntington's disease is a genetically inherited condition which results in severe nerve-cell damage in the brain. The hereditary and debilitative nature of the disease means that many people are involved either directly or indirectly by this condition. The recent identification of the faulty gene involved has made the diagnosis of this condition simpler. The majority of people develop the disease between the ages of 35 and 55 years, so for those aware of their genetic risk there are dilemmas to consider - should you have a test to see if you have the gene? Should you start a family? The new edition of this successful book specifically designed for families of patients with Huntington's disease has been expanded to include a number of important new developments in research and clinical practice that have occurred in the field in recent years. While there are no drugs currently available that slow down or reverse the neurodegenerative process in Huntington's Disease, there is growing data on the use of existing treatments to manage movement disorder, irritability and depression associated with the condition, which are covered here. This edition also includes completely new chapters covering juvenile Huntington's disease and late-stage Huntington's disease, and a fully updated Appendix of relevant patients' organizations.
| Author | : Adam Rosenblatt |
| Publisher | : |
| Total Pages | : 85 |
| Release | : 1999-01-01 |
| Genre | : Huntington's chorea |
| ISBN | : 9780963773029 |
Download A Physician's Guide to the Management of Huntington's Disease Book in PDF, ePub and Kindle
| Author | : Ruth H. Walker |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 475 |
| Release | : 2011 |
| Genre | : Language Arts & Disciplines |
| ISBN | : 0195393511 |
Download The Differential Diagnosis of Chorea Book in PDF, ePub and Kindle
"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.
