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.

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.

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.

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.

"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.

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.

This book represents the final work of the late Professor C. David Marsden, who was the most influential figure in the field of movement disorders, in terms of his contributions to both research and clinical practice, in the modern era. It was conceived and written by David Marsden and his colleague at the Institute of Neurology, Prof. Ivan Donaldson. It was their intention that this would be the most comprehensive book on movement disorders and also that it would serve as the 'clinical Bible' for the management of these conditions. It provides a masterly survey of the entire topic, which has been made possible only by vast laboratory and bedside experience. Marsden's Book of Movement Disorders covers the full breadth of movement disorders, from the underlying anatomy and understanding of basal ganglia function to the diagnosis and management of specific movement disorders, including the more common conditions such as Parkinson's Disease through to rare, and very rare conditions such as Niemann-Pick disease. Chapters follow a structured format with historical overviews, definitions, clinical features, differential diagnosis, investigations and treatment covered in a structured way. It is extensively illustrated with many original photographs and diagrams of historical significance. Among these illustrations are still images of some original film clips of some of Dr. Marsden's patients published here for the first time. Comprehensively referenced and updated by experts from the Institute of Neurology at Queen Square, this book is a valuable reference for, not just movement disorder specialists and researchers, but also for clinicians who care for patients with movement disorders.

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.