Juvenile Huntingtons Disease
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| Author | : Peggy C. Nopoulos |
| Publisher | : MDPI |
| Total Pages | : 102 |
| Release | : 2021-01-14 |
| Genre | : Science |
| ISBN | : 3039438115 |
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 Quarrell |
| Publisher | : |
| Total Pages | : 164 |
| Release | : 1999 |
| Genre | : Family & Relationships |
| ISBN | : 9780192629302 |
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.
| Author | : Shelby Lentz |
| Publisher | : |
| Total Pages | : 28 |
| Release | : 2021-07-17 |
| Genre | : |
| ISBN | : |
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.
| Author | : Udo Rüb |
| Publisher | : Springer |
| Total Pages | : 154 |
| Release | : 2015-09-29 |
| Genre | : Medical |
| ISBN | : 331919285X |
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 | : Thomas D. Bird |
| Publisher | : |
| Total Pages | : 289 |
| Release | : 2019 |
| Genre | : Medical |
| ISBN | : 0190684224 |
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 | : Jessica Koosed Etting |
| Publisher | : Delacorte Press |
| Total Pages | : 338 |
| Release | : 2021-04-27 |
| Genre | : Young Adult Fiction |
| ISBN | : 0593174917 |
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?
| Author | : Alberto Albanese |
| Publisher | : John Wiley & Sons |
| Total Pages | : 413 |
| Release | : 2012-03-07 |
| Genre | : Medical |
| ISBN | : 1444346164 |
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 | : Jane S. Paulsen |
| Publisher | : |
| Total Pages | : 46 |
| Release | : 1999-01-01 |
| Genre | : Huntington's chorea |
| ISBN | : 9780963773043 |
| Author | : Clévio Nóbrega |
| Publisher | : Springer |
| Total Pages | : 467 |
| Release | : 2018-02-09 |
| Genre | : Medical |
| ISBN | : 3319717790 |
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.
| Author | : Ruth H. Walker |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 475 |
| Release | : 2011 |
| Genre | : Language Arts & Disciplines |
| ISBN | : 0195393511 |
"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.
