Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis: Genetics, Clinical and Pathological Features, and Disease Mechanisms PDF Download
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Author: Annakaisa Haapasalo
Publisher: Frontiers Media SA
ISBN: 2889717771
Category : Science
Languages : en
Pages : 188
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Book Description
Author: Annakaisa Haapasalo
Publisher: Frontiers Media SA
ISBN: 2889717771
Category : Science
Languages : en
Pages : 188
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Book Description
Author: Gabor G. Kovacs
Publisher: Cambridge University Press
ISBN: 1316337650
Category : Medical
Languages : en
Pages : 320
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Book Description
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.
Author: Dennis Dickson
Publisher: John Wiley & Sons
ISBN: 1444341235
Category : Medical
Languages : en
Pages : 497
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Book Description
Most textbooks on neurodegenerative disorders have used a classification scheme based upon either clinical syndromes or anatomical distribution of the pathology. In contrast, this book looks to the future and uses a classification based upon molecular mechanisms, rather than clinical or anatomical boundaries. Major advances in molecular genetics and the application of biochemical and immunocytochemical techniques to neurodegenerative disorders have generated this new approach. Throughout most of the current volume, diseases are clustered according to the proteins that accumulate within cells (e.g. tau, α-synuclein and TDP-43) and in the extracellular compartments (e.g. β-amyloid and prion proteins) or according to a shared pathogenetic mechanism, such as trinucleotide repeats, that are a feature of specific genetic disorders. Chapters throughout the book conform to a standard lay-out for ease of access by the reader and are written by a panel of International Experts Since the first edition of this book, major advances have been made in the discovery of common molecular mechanisms between many neurodegenerative diseases most notably in the frontotemporal lobar degenerations (FTLD) and motor neuron disease or amyotrophic lateral sclerosis. This book will be essential reading for clinicians, neuropathologists and basic neuroscientists who require the firm up-to-date knowledge of mechanisms, diagnostic pathology and genetics of Neurodegenerative diseases that is required for progress in therapy and management.
Author: Martin Henrik Maurer
Publisher: BoD – Books on Demand
ISBN: 9533078065
Category : Medical
Languages : en
Pages : 742
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Book Description
Though considerable amount of research, both pre-clinical and clinical, has been conducted during recent years, Amyotrophic Lateral Sclerosis (ALS) remains one of the mysterious diseases of the 21st century. Great efforts have been made to develop pathophysiological models and to clarify the underlying pathology, and with novel instruments in genetics and transgenic techniques, the aim for finding a durable cure comes into scope. On the other hand, most pharmacological trials failed to show a benefit for ALS patients. In this book, the reader will find a compilation of state-of-the-art reviews about the etiology, epidemiology, and pathophysiology of ALS, the molecular basis of disease progression and clinical manifestations, the genetics familial ALS, as well as novel diagnostic criteria in the field of electrophysiology. An overview over all relevant pharmacological trials in ALS patients is also included, while the book concludes with a discussion on current advances and future trends in ALS research.
Author: Pol Andrés Benito
Publisher:
ISBN:
Category :
Languages : en
Pages : 369
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Book Description
"Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are clinically distinct neurodegenerative diseases that are connected by genetic and pathological overlap. ALS patients present with muscle weakness and spasticity associated with degeneration of motor neurons in the motor cortex, brainstem, and spinal cord that ultimately leads to death. In contrast, patients with FTLD display cognitive dysfunction associated with degeneration of neurons in the frontal and temporal lobes of the brain. Despite being clinically distinct, 15% of individuals presenting FTLD also have ALS, whereas 30% of individuals with ALS will develop FTLD. This implies that these two neurodegenerative diseases are part of a shared clinical spectrum. In recent years, several mechanisms have been proposed as contributory factors in the pathogenesis of neuron damage in ALS and FTLD, including excitoxicity, mitochondrial and energy metabolism failure, oxidative stress damage, altered glial cells, inflammation, cytoskeletal abnormalities, alterations in RNA metabolism, and altered TDP-43 metabolism, among others. However, it is poor known about the etiology of these disorders and their possible treatment. The objective of the investigations presented in this doctoral thesis is focused in the identification of new molecular alterations underlying motor and cognitive changes in post-mortem human spinal cord and brain samples of ALS patients and brain samples of FTLD-TDP patients compared with controls, combining microarray, mRNA, protein and enzyme assays studies. The obtained results have identified new molecular alterations in ALS and FTLD of different biological functions and cellular pathways including changes in mitochondrial energy metabolism, neuroinflammation, neuronal structure, neurotransmission, axonal transport mechanisms and oligodendrocyte function; allowing in turn, the screening and identification of new candidate molecules as biomarkers for these disorders." -- TDX.
Author: Bruce L. Miller
Publisher: Cambridge University Press
ISBN: 1107077206
Category : Medical
Languages : en
Pages : 491
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Book Description
Distils the most valuable discoveries in dementia research into clear, insightful chapters written by international experts.
Author: Charlotte E. Teunissen
Publisher: Humana
ISBN: 9781071613214
Category : Medical
Languages : en
Pages : 236
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Book Description
This volume covers the latest methods used in clinical neurochemistry laboratories for both clinical practice and research. Chapters in this book discuss topics such as techniques for cerebrospinal fluid (CSF) collection, pre-analytical processing, and basic CSF analysis; an examination of biomarkers including ELISA and automated immunochemical assays for amyloid and tau markers for Alzheimer’s disease; the analysis of neurofilaments by digital ELISA; and an example of successful novel immunoassay development. In the Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and thorough, Cerebrospinal Fluid Biomarkers is a valuable resource for clinicians and researchers to use in CSF labs and CSF courses.
Author: Christopher A. Shaw
Publisher: John Wiley & Sons
ISBN: 1119745500
Category : Medical
Languages : en
Pages : 240
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Book Description
SPECTRUMS OF AMYOTROPHIC LATERAL SCLEROSIS Discover state-of-the-art research findings on ALS from leading authors and editors in the field In Spectrums of Amyotrophic Lateral Sclerosis: Heterogeneity, Pathogenesis & Therapeutic Directions, distinguished researchers and editors Dr. Christopher A. Shaw and Jessica R. Morrice deliver a practical and powerful perspective on Amyotrophic Lateral Sclerosis (ALS) as a heterogeneous spectrum of disorders. This increasingly accepted point-of-view allows researchers and medical professionals to develop better targeted interventions and more precise therapies. In the book, readers will find chapters on a wide variety of critical issues facing ALS researchers and healthcare practitioners treating ALS sufferers, including animal models of ALS, neuronal support cells known to have a pivotal role in ALS, and current challenges in ALS clinical trials, among others. The authors describe pathologic features common to all cases of ALS and why animal models, though crucial, should be interpreted with caution. Finally, multiple genetic and environmental etiologies of the disease are discussed. Readers will also benefit from the inclusion of: A thorough introduction to ALS as a spectrum disease and the implications for models, therapeutic development and clinical trial design Explorations of the genetic basis of ALS, prospective sALS etiologies, and the involvement of microbiome in ALS Discussions of ALS-PDC and environmental risk factors, protein aggregation in ALS, defects in RNA metabolism in ALS, and the non-cell autonomous nature of ALS and the involvement of glial cells Examinations of animal models of ALS and perspectives on previously failed ALS therapeutics and current therapeutic strategies Perfect for clinical neurologists, healthcare providers and caretakers, clinicians, and researchers studying motor neuron disease, Spectrums of Amyotrophic Lateral Sclerosis: Heterogeneity, Pathogenesis & Therapeutic Directions is also an indispensable resource for the neurodegenerative research community, neurology residents, and graduate-level neuroscience students.
Author: Laura MacNair
Publisher:
ISBN:
Category :
Languages : en
Pages : 0
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Book Description
Nuclear depletion and formation of cytoplasmic inclusions of the DNA/RNA-binding protein TAR DNA-binding protein of 43 kDa (TDP-43) in disease affected-neurons is a shared neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). This suggests that TDP-43 could contribute to disease pathogenesis through a loss-of-function from the nucleus and/or a gain-of-function in the cytoplasm. Since TDP-43 regulates numerous aspects of RNA metabolism, I determined if abnormalities of TDP-43 would lead to changes in translating mRNAs in motor neurons of a mutant TDP-43 transgenic mouse model by coupling ribosome affinity purification with microarray analysis. Through this I discovered that two RNA-binding proteins, methenyltetrahydrofolate synthetase domain-containing protein (MTHFSD) and DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), were differentially expressed in motor neurons of mutant TDP-43 mice and ALS cases. I demonstrated that TDP-43 binds to the MTHFSD and DDX58 RNAs, indicating that TDP-43 could directly regulate their expression. Since TDP-43 autoregulates its own expression and splicing I investigated a C-terminally truncated isoform of TDP-43 (TDP-C-spl) and demonstrated that it is upregulated in ALS spinal cord tissue. TDP-C-spl formed cytoplasmic aggregates in transfected cells, and induced neuronal dysfunction in transgenic TDP-43-C-spl mice, which developed progressive neuropathology, age-dependent decline in cognition and displayed stereotypic behavior, modeling aspects of FTLD. To understand upstream events leading to TDP-43 mislocalization, I investigated its relationship with hexanucleotide repeat expansions in C9orf72, the most common genetic cause of ALS/FTLD using isoform specific antibodies. I further show that the normal localization of C9-S to the nuclear membrane of motor neurons is lost in ALS, and correlates with TDP-43 pathology. In summary, this thesis has uncovered novel functional consequences of TDP-43 pathology and implicated nucleocytoplasmic dysfunction as a possible upstream event causing TDP-43 mislocalization.
Author: Daniela Galimberti
Publisher: Springer
ISBN: 3319729381
Category : Medical
Languages : en
Pages : 412
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Book Description
This book gives an overview of the current knowledge on the most common neurodegenerative diseases, including Alzheimer’s disease, frontotemporal lobar degeneration, Lewy body dementia,Parkinson’s disease, amyotrophic lateral sclerosis, and additional less common neurodegenerative diseases. Both clinical and basic aspects of each disease are treated, including novel diagnostic criteria, old and new treatments, basic discoveries (genetics, epigenetics and molecular biology), and translation of basic research into biomarkers for early diagnosis, particularly to identify peripheral biomarkers. In addition, emerging data indicate that neurodegeneration seems to also be present in classically non-degenerative disorders. Therefore, a chapter about overlapping mechanisms between dementias and psychiatric disorders is included, as well as a description of the role of neurodegeneration in multiple sclerosis. Neurodegenerative Diseases is aimed at clinicians, particularly those working in academic hospitals. This multidisciplinary book will also be of interest to basic researchers in medical fields.
