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Juvenile Onset Huntington's Disease

Juvenile Onset Huntington's Disease
Author: Peggy C. Nopoulos
Publisher: MDPI
Total Pages: 102
Release: 2021-01-14
Genre: Science
ISBN: 3039438115

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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.


Juvenile Huntington's Disease

Juvenile Huntington's Disease
Author: Oliver Quarrell
Publisher: Oxford University Press, USA
Total Pages: 222
Release: 2009-01-08
Genre: Medical
ISBN: 0199236127

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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.


Juvenile Onset Huntington's Disease

Juvenile Onset Huntington's Disease
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.


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

The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy
Author: Udo Rüb
Publisher: Springer
Total Pages: 146
Release: 2015-09-29
Genre: Medical
ISBN: 331919285X

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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

Hyperkinetic Movement Disorders
Author: Alberto Albanese
Publisher: John Wiley & Sons
Total Pages: 413
Release: 2012-03-07
Genre: Medical
ISBN: 1444346164

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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.


Huntington's Disease

Huntington's Disease
Author: Oliver Quarrell
Publisher: Oxford University Press
Total Pages: 165
Release: 2008-02-28
Genre: Family & Relationships
ISBN: 0199212015

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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.


Biology of the NMDA Receptor

Biology of the NMDA Receptor
Author: Antonius M. VanDongen
Publisher: CRC Press
Total Pages: 368
Release: 2008-10-29
Genre: Medical
ISBN: 142004415X

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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


Progressive Brain Disorders in Childhood

Progressive Brain Disorders in Childhood
Author: Juan M. Pascual
Publisher: Cambridge University Press
Total Pages: 507
Release: 2017-04-20
Genre: Medical
ISBN: 1107042054

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A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.


Fade into the Bright

Fade into the Bright
Author: Jessica Koosed Etting
Publisher: Delacorte Press
Total Pages: 338
Release: 2021-04-27
Genre: Young Adult Fiction
ISBN: 0593174917

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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?