Download or read book Juvenile Onset Huntington s Disease written by Peggy C. Nopoulos and published by MDPI. This book was released on 2021-01-14 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Huntington s Disease written by Oliver Quarrell and published by Oxford University Press. This book was released on 2008-02-28 with total page 165 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Juvenile Huntington s Disease written by Oliver W.J. Quarrell and published by Oxford University Press. This book was released on 2009-01-08 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of HD usually occurs in adulthood, a small percentage of cases develop symptoms before 20 years of age (juvenile-onset Huntington's Disease or JHD). This book summarises, for the first time, the clinical and scientific knowledge available on JHD.
Download or read book Brave Breanna written by Shelby Lentz and published by . This book was released on 2021-07-17 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the story of Breanna. Breanna is quite an exceptional 8 year old. She loves singing, movies, and princess dresses, and everywhere she goes, she takes her million-dollar smile with her. One day, she notices her body doing things she doesn't expect or understand. After a trip to the doctors, she learns that she is living with Juvenile Huntington's Disease, a genetic condition affecting the brain. Rather than letting it get her down, Breanna shows everyone just what it means to be a positive force in the world. Join her as she teaches the people around her what it really means to be brave, and helps them to find their smile even when it seems like nothing is going their way.
Download or read book Hyperkinetic Movement Disorders written by Alberto Albanese and published by John Wiley & Sons. This book was released on 2012-03-07 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book A Physician s Guide to the Management of Huntington s Disease written by Adam Rosenblatt and published by . This book was released on 1999-01-01 with total page 85 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Neuropathology of Huntington s Disease Classical Findings Recent Developments and Correlation to Functional Neuroanatomy written by Udo Rüb and published by Springer. This book was released on 2015-09-29 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Can You Help Me written by Thomas D. Bird and published by Oxford University Press, USA. This book was released on 2019 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Fade into the Bright written by Jessica Koosed Etting and published by Delacorte Press. This book was released on 2021-04-27 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Five Feet Apart meets Tell Me Three Things in this YA contemporary novel about two sisters, one summer, and a diagnosis that changes everything. Abby needs to escape a life that she no longer recognizes as her own. Her old life--the one where she was a high school volleyball star with a textbook-perfect future--has been ripped away. Abby and her sister, Brooke, have received a letter from their estranged dad informing them he has Huntington's disease, a fatal, degenerative disorder that you wouldn't wish on your worst enemy. And when the sisters agree to genetic testing, one of them tests positive. Fleeing to Catalina Island for the summer, Abby is relieved to be in a place where no one knows her tragic history. But when she meets aspiring documentary filmmaker Ben--tall, outdoorsy, easygoing, with eyes that don't miss a thing--she's thrown off her game. Ben's the kind of guy who loves to figure out people's stories. What if he learns hers?
Download or read book Huntington s Chorea written by M.R. Hayden and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 333 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Huntington s Disease written by Stephanie E. Clipper and published by . This book was released on 1998 with total page 44 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neurodegeneration written by Anthony Schapira and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors
Download or read book Polyglutamine Disorders written by Clévio Nóbrega and published by Springer. This book was released on 2018-02-09 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies’ development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); spinal–bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.
Download or read book Biology of the NMDA Receptor written by Antonius M. VanDongen and published by CRC Press. This book was released on 2008-10-29 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book The Differential Diagnosis of Chorea written by Ruth H. Walker and published by Oxford University Press, USA. This book was released on 2011 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.
Download or read book Juvenile Onset Huntington s Disease written by Peggy C. Nopoulos and published by . This book was released on 2021 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Inside the O Briens written by Lisa Genova and published by Simon and Schuster. This book was released on 2015-04-07 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patrol officer Joe O'Brien is third-generation Irish in Charlestown. A tough cop with a soft interior, a loving wife and four adult children, Joe is diagnosed with Huntington's disease. 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 his daughter Katie and her siblings must find the courage to either live a life "at risk" or learn their fate.
