Author: Donald C. Lo
Publisher: CRC Press
ISBN: 104020080X
Category : Medical
Languages : en
Pages : 355
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Book Description
In 1993, the genetic mutation responsible for Huntington's disease (HD) was identified. Considered a milestone in human genomics, this discovery has led to nearly two decades of remarkable progress that has greatly increased our knowledge of HD, and documented an unexpectedly large and diverse range of biochemical and genetic perturbations that see
Author: Udo Rüb
Publisher: Springer
ISBN: 9783319192840
Category : Medical
Languages : en
Pages : 0
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Book Description
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: Hoa Huu Phuc Nguyen
Publisher: Springer
ISBN: 366246344X
Category : Medical
Languages : en
Pages : 402
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Book Description
Motor dysfunction and cognitive impairment are major symptoms in both Huntington’s Disease (HD) and Parkinson’s Disease (PD). A breakthrough in HD research was the identification of the gene that causes this devastating monogenetic illness. Similarly, several genes were found to cause familial forms of PD. With their identification, a plethora of genetic animal models has been generated and has revolutionized the understanding of the pathobiology and pathophysiology of these disorders. The models allow us to study the earliest manifestations of the diseases behaviorally and neuropathologically and help us understand how they progress over time. Additionally, neurotoxic animal models are still of high interest to the PD field, as they are being used to study e.g. mitochondrial dysfunction in PD. This book focuses on animal models of both diseases and how they have helped and will continue to help understand the behavioral neurobiology in these disorders.
Author: Oliver Quarrell
Publisher: Oxford University Press
ISBN: 0199212015
Category : Family & Relationships
Languages : en
Pages : 165
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Book Description
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.
Author: Peggy C. Nopoulos
Publisher: MDPI
ISBN: 3039438115
Category : Science
Languages : en
Pages : 102
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Book Description
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: Michael J. Zigmond
Publisher: Elsevier
ISBN: 0123982804
Category : Science
Languages : en
Pages : 823
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Book Description
Neurobiology of Brain Disorders is the first book directed primarily at basic scientists to offer a comprehensive overview of neurological and neuropsychiatric disease. This book links basic, translational, and clinical research, covering the genetic, developmental, molecular, and cellular mechanisms underlying all major categories of brain disorders. It offers students, postdoctoral fellows, and researchers in the diverse fields of neuroscience, neurobiology, neurology, and psychiatry the tools they need to obtain a basic background in the major neurological and psychiatric diseases, and to discern connections between basic research and these relevant clinical conditions. This book addresses developmental, autoimmune, central, and peripheral neurodegeneration; infectious diseases; and diseases of higher function. The final chapters deal with broader issues, including some of the ethical concerns raised by neuroscience and a discussion of health disparities. Included in each chapter is coverage of the clinical condition, diagnosis, treatment, underlying mechanisms, relevant basic and translational research, and key unanswered questions. Written and edited by a diverse team of international experts, Neurobiology of Brain Disorders is essential reading for anyone wishing to explore the basic science underlying neurological and neuropsychiatric diseases. - Links basic, translational, and clinical research on disorders of the nervous system, creating a format for study that will accelerate disease prevention and treatment - Covers a vast array of neurological disorders, including ADHD, Down syndrome, autism, muscular dystrophy, diabetes, TBI, Parkinson, Huntington, Alzheimer, OCD, PTSD, schizophrenia, depression, and pain - Illustrated in full color - Each chapter provides in-text summary points, special feature boxes, and research questions - Provides an up-to-date synthesis of primary source material
Author: André Aleman
Publisher: Oxford University Press
ISBN: 0198841809
Category : Medical
Languages : en
Pages : 301
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Book Description
Apathy is described as a lack of motivation, loss of interest, and decreased initiative and has a negative outcomes for both the patient and the caregiver. This book provides a review of apathy in neurological and psychiatric disorders as well as a review of apathy definitions, apathy measurements, apathy research and apathy treatments.
Author: Clévio Nóbrega
Publisher: Springer
ISBN: 3319717790
Category : Medical
Languages : en
Pages : 467
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Book Description
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: M. Flint Beal
Publisher: Cambridge University Press
ISBN: 1139443453
Category : Medical
Languages : en
Pages : 1009
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Book Description
Neurodegenerative diseases are major contributors to disability and disease, with Alzheimer's and Parkinson's diseases the most prevalent. This major reference reviews the rapidly advancing knowledge of pathogenesis and treatment of neurodegenerative diseases in the context of a comprehensive survey of each disease and its clinical features. The editors and contributors are among the leading experts in the field internationally. Covering basic science, diagnostic tools and therapeutic approaches, the book focuses on all aspects of neurodegenerative disease, including the normal aging process. The dementias, prion diseases, Parkinson's disease and atypical parkinsonisms, neurodegenerative ataxias, motor neuron diseases, degenerative diseases with chorea, iron and copper disorders, and mitochondrial diseases, are all methodically presented and discussed, with extensive illustrations. In each case the underlying genetics, neuropathological and clinical issues are fully reviewed, making this the most complete as well as the most authoritative reference available to clinicians and neuroscientists.
Author: Oliver Quarrell
Publisher: Oxford University Press, USA
ISBN: 0199236127
Category : Medical
Languages : en
Pages : 222
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Book Description
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.
