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Polyglutamine Disorders

Polyglutamine Disorders
Author: Clévio Nóbrega
Publisher: Springer
Total Pages: 467
Release: 2018-02-09
Genre: Medical
ISBN: 3319717790

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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.


Glutamine Repeats and Neurodegenerative Diseases

Glutamine Repeats and Neurodegenerative Diseases
Author: Peter S. Harper
Publisher: Oxford University Press, USA
Total Pages: 352
Release: 2001
Genre: Medical
ISBN:

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This book focuses on the discovery of a common genetic basis for a group of inherited neurological disorders, including Huntington's Disease, spino-bulbar atrophy and a series of hereditary ataxias. This shared molecular background and other similarities have led to the development of theoretical models for the pathogenesis of these diseases. It is now also clear that the mechanisms involved are likely to be of more general relevance, outside of this particular group of disorders, with implications for other neurodegenerative processes such as those involved in Alzheimer's, Parkinson's and Prion diseases. The book is an edited and updated compilation evolving from a Royal Society discussion meeting.


Tandem Repeat Polymorphisms

Tandem Repeat Polymorphisms
Author: Anthony J. Hannan
Publisher: Springer Science & Business Media
Total Pages: 208
Release: 2013-07-30
Genre: Medical
ISBN: 1461454344

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This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease. There are hundreds of thousands of unique tandem repeats in the human genome and their polymorphic distributions have the potential to greatly influence functional diversity and disease susceptibility. Recent discoveries in this expanding field are critically reviewed and discussed in a range of subsequent chapters, with a focus on the role of TRPs and their various gene products in evolution, development, diverse molecular and cellular processes, brain function and disease.


The Molecular and Cellular Basis of Neurodegenerative Diseases

The Molecular and Cellular Basis of Neurodegenerative Diseases
Author: Michael S. Wolfe
Publisher: Academic Press
Total Pages: 561
Release: 2018-03-29
Genre: Medical
ISBN: 0128113057

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The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms presents the pathology, genetics, biochemistry and cell biology of the major human neurodegenerative diseases, including Alzheimer’s, Parkinson’s, frontotemporal dementia, ALS, Huntington’s, and prion diseases. Edited and authored by internationally recognized leaders in the field, the book's chapters explore their pathogenic commonalities and differences, also including discussions of animal models and prospects for therapeutics. Diseases are presented first, with common mechanisms later. Individual chapters discuss each major neurodegenerative disease, integrating this information to offer multiple molecular and cellular mechanisms that diseases may have in common. This book provides readers with a timely update on this rapidly advancing area of investigation, presenting an invaluable resource for researchers in the field. Covers the spectrum of neurodegenerative diseases and their complex genetic, pathological, biochemical and cellular features Focuses on leading hypotheses regarding the biochemical and cellular dysfunctions that cause neurodegeneration Details features, advantages and limitations of animal models, as well as prospects for therapeutic development Authored by internationally recognized leaders in the field Includes illustrations that help clarify and consolidate complex concepts


Neuropathology of Neurodegenerative Diseases

Neuropathology of Neurodegenerative Diseases
Author: Gabor G. Kovacs
Publisher: Cambridge University Press
Total Pages: 320
Release: 2017-12-13
Genre: Medical
ISBN: 1316337650

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This practical guide to the diagnosis of neurodegenerative diseases discusses modern molecular techniques, morphological classification, fundamentals of clinical symptomology, diagnostic pitfalls and immunostaining protocols. It is based on the proteinopathy concept of neurodegenerative disease, which has influenced classification and provides new strategies for therapy. Numerous high-quality images, including histopathology photomicrographs and neuroradiology scans, accompany the description of morphologic alterations and interpretation of immunoreactivities. Diagnostic methods and criteria are placed within recent developments in neuropathology, including the now widespread application of immunohistochemistry. To aid daily practice, the guide includes diagnostic algorithms and offers personal insights from experienced experts in the field. Special focus is given to the way brain tissue should be handled during diagnosis. This is a must-have reference for medical specialists and specialist medical trainees in the fields of pathology, neuropathology and neurology working with neuropathologic features of neurodegenerative diseases.


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: 154
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.


Autophagy: Biology and Diseases

Autophagy: Biology and Diseases
Author: Weidong Le
Publisher: Springer Nature
Total Pages: 734
Release: 2020-07-15
Genre: Medical
ISBN: 9811542724

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This book consists of 3 volumes: Basic Science (Volume 1), Clinical Science (Volume 2) and Technology and Methodology (Volume 3). Volume 2 focuses on the clinical aspects of autophagy research, discussing the role of autophagy in neuropsychiatric disorders, the cardiovascular, immune, digestive and endocrine systems, as well as tumors, infection, the kidney, and the respiratory and hematological systems. It also addresses autophagy-related drug development. Written and edited by a team of 90 experts, and presenting the state of the art in autophagy research, this book is a valuable reference resource for researchers and clinicians alike. It can also be used as supplementary material for graduate students majoring in biology and medicine


Neurodegenerative Diseases

Neurodegenerative Diseases
Author: Nagehan Ersoy Tunalı
Publisher: BoD – Books on Demand
Total Pages: 180
Release: 2021-01-20
Genre: Science
ISBN: 1838801499

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Neurodegenerative diseases represent a very large group of heterogeneous disorders affecting specific subtypes of neurons in the brain. This book contributes insight both to the awareness of the brain and its neurodegenerative states. The chapters present current knowledge regarding genetics, molecular mechanisms, and new therapeutic strategies against neurodegenerative disorders. The book is intended to serve as a source to aid clinicians and researchers in the field, and also life science readers to increase their understanding and awareness of the clinical correlations, genetic aspects, neuropathological findings, and current therapeutic interventions in neurodegenerative diseases. I believe that this book will enlighten the curiosity for neurodegeneration and also encourage researchers to work on potentially effective molecular therapies for still mysterious neurodegenerative disorders.


Protein Misfolding Diseases

Protein Misfolding Diseases
Author: Marina Ramirez-Alvarado
Publisher: John Wiley & Sons
Total Pages: 1311
Release: 2010-12-01
Genre: Science
ISBN: 1118031814

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An increasingly aging population will add to the number of individuals suffering from amyloid. Protein Misfolding Diseases provides a systematic overview of the current and emerging therapies for these types of protein misfolding diseases, including Alzheimer's, Parkinson's, and Mad Cow. The book emphasizes therapeutics in an amyloid disease context to help students, faculty, scientific researchers, and doctors working with protein misfolding diseases bridge the gap between basic science and pharmaceutical applications to protein misfolding disease.


Cerebellum as a CNS Hub

Cerebellum as a CNS Hub
Author: Hidehiro Mizusawa
Publisher: Springer Nature
Total Pages: 543
Release: 2021-11-10
Genre: Medical
ISBN: 3030758176

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Based on the 75th Fujihara Seminar held in December 2018 in Tokyo, Japan, this volume explores the latest research on the cerebellum. Contributors seek to examine the cerebellum's role as a unique hub for brain activity and discover new information about its purpose. The discussion is broad, ranging from evolutionary topics to therapeutic strategy and addresses both physiology and pathology. Subjects covered include anatomy, information processing, complex spikes, plasticity, modeling, and spinocerebellar ataxias. The volume is intended to set the stage for the future of cerebellar research and guide both basic and clinical researchers.