Juvenile Onset Huntingtons Disease

Author : Peggy C. Nopoulos
Publisher : MDPI
ISBN 13 : 3039438115
Total Pages : 102 pages
Book Rating : 4.12/5 ( download)

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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.

Author : Oliver W. J. Quarrell
Publisher : OUP Oxford
ISBN 13 : 0191575283
Total Pages : 224 pages
Book Rating : 4.80/5 ( download)

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Download or read book Juvenile Huntington's Disease written by Oliver W. J. Quarrell and published by OUP Oxford. This book was released on 2009-01-08 with total page 224 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 :
ISBN 13 : 9783039438129
Total Pages : 102 pages
Book Rating : 4.23/5 ( download)

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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.

Author : Julia Marie Artigliere-Cavalier
Publisher :
ISBN 13 :
Total Pages : 290 pages
Book Rating : 4.36/5 ( download)

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Download or read book A Model for the Early Identification of Individuals with Juvenile Onset Huntington's Disease written by Julia Marie Artigliere-Cavalier and published by . This book was released on 1989 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Udo Rüb
Publisher : Springer
ISBN 13 : 331919285X
Total Pages : 154 pages
Book Rating : 4.57/5 ( download)

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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 154 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.

Author : Alberto Albanese
Publisher : John Wiley & Sons
ISBN 13 : 1444346164
Total Pages : 413 pages
Book Rating : 4.69/5 ( download)

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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.

Author : Ruth H. Walker
Publisher : Oxford University Press, USA
ISBN 13 : 0195393511
Total Pages : 475 pages
Book Rating : 4.14/5 ( download)

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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.

Author : Adam Rosenblatt
Publisher :
ISBN 13 : 9780963773029
Total Pages : 85 pages
Book Rating : 4.2X/5 ( download)

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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:

Author : Oliver W J Quarrell
Publisher : OUP Oxford
ISBN 13 : 0191607371
Total Pages : 165 pages
Book Rating : 4.70/5 ( download)

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Download or read book Huntington's Disease written by Oliver W J Quarrell and published by OUP Oxford. This book was released on 2008-02-28 with total page 165 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Adrian Danek
Publisher : Springer Science & Business Media
ISBN 13 : 1402028989
Total Pages : 285 pages
Book Rating : 4.84/5 ( download)

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Download or read book Neuroacanthocytosis Syndromes written by Adrian Danek and published by Springer Science & Business Media. This book was released on 2006-07-09 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.