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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…mehr
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, alpha-synuclein and TDP-43) and in the extracellular compartments (e.g. beta-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.
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Autorenporträt
Volume Editor: Dr. Dennis W. Dickson, Department of Pathology, Neuropathology Laboratory, Mayo Clinic, Jacksonville, Florida, USA.
Inhaltsangabe
List of Contributors, viii Preface, xii List of Abbreviations, xiii Part 1 Introduction: Basic Mechanisms of Neurodegeneration 1 Introduction to Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 3 Dennis W. Dickson 2 Cell Death and Neurodegeneration, 6 Violetta N. Pivtoraiko and Kevin A. Roth 3 Oxidative Stress and Balance in Neurodegenerative Diseases, 10 George Perry, Siddhartha Mondragón-Rodríguez, Akihiko Nunomura, Xiongwei Zhu, Paula I. Moreira and Mark A. Smith 4 Protein Aggregation in Neurodegeneration, 13 Adriano Aguzzi and Veronika Kana 5 Protein Degradation in Neurodegeneration: The Ubiquitin Pathway, 18 Lynn Bedford, Robert Layfi eld, Nooshin Rezvani, Simon Paine, James Lowe and R. John Mayer 6 Genetics of Neurodegeneration, 22 John Hardy 7 Transgenic Animal Models of Proteinopathies, 26 Naruhiko Sahara, Heather Melrose, Simon D'Alton and Jada Lewis Part 2 Alzheimer's Disease and Aging 8 Clinical Aspects of Alzheimer's Disease, 39 David Knopman 9 Genetics of Alzheimer's Disease, 51 Lars Bertram and Rudolph E. Tanzi 10 Neuropathology of Alzheimer's Disease and its Variants, 62 Charles Duyckaerts and Dennis Dickson 11 Amyloid-ß Production, 92 Colin L. Masters and Konrad Beyreuther 12 Elimination of Amyloid ß from the Brain, its Failure in Alzheimer's Disease and Implications for Therapy, 97 Roy O. Weller, Seth Love and James A.R. Nicoll Part 3 Tauopathies 13 Introduction to the Tauopathies, 105 Michel Goedert 14 Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17, 110 Bernardino Ghetti, Zbigniew K. Wszolek, Bradley F. Boeve, Salvatore Spina and Michel Goedert 15 Progressive Supranuclear Palsy and Corticobasal Degeneration, 135 Dennis W. Dickson, Jean-Jaques Hauw, Yves Agid and Irene Litvan 16 Pick's Disease, 156 David G. Munoz, Huw R. Morris and Martin Rossor 17 Argyrophilic Grain Disease, 165 Markus Tolnay and Heiko Braak 18 Parkinsonism-Dementia Complex of Guam, 171 Kiyomitsu Oyanagi, Tomoyo Hashimoto and Mineo Yamazaki 19 Postencephalitic Parkinsonism, 179 Kurt A. Jellinger Part 4 Synucleinopathies 20 Introduction to a-Synucleinopathies, 191 Maria Grazia Spillantini 21 Parkinson's Disease, 194 Kurt A. Jellinger 22 Dementia with Lewy Bodies and Parkinson's Disease Dementia, 224 Paul G. Ince 23 Lewy Bodies in Conditions other than Disorders of a-Synuclein, 238 Coro Paisán-Ruiz, Laura Parkkinen and Tamas Revesz 24 Multiple System Atrophy, 242 Janice L. Holton, Andrew J. Lees and Tamas Revesz Part 5 Trinucleotide Repeat Disorders 25 Introduction to Trinucleotide Repeat Diseases, 255 H. Brent Clark 26 Huntington's Disease, 258 John C. Hedreen and Raymund A.C. Roos 27 Spinocerebellar Ataxias, 273 Hidehiro Mizusawa, H. Brent Clark and Arnulf H. Koeppen 28 Friedreich's Ataxia, 288 Arnulf H. Koeppen 29 Dentatorubral-pallidoluysian Atrophy, 299 Hitoshi Takahashi, Mitsunori Yamada and Shoji Tsuji 30 Spinal and Bulbar Muscular Atrophy, 307 Gen Sobue, Hiroaki Adachi and Masahisa Katsuno Part 6 Prion Disorders 31 Introduction to Prion Disorders, 315 Adriano Aguzzi and Veronika Kana 32 Sporadic Creutzfeldt-Jakob Disease, 322 Herbert Budka, Mark W. Head, James W. Ironside, Pierluigi Gambetti, Piero Parchi and Fabrizio Tagliavini 33 Genetic Creutzfeldt-Jakob Disease, 336 Piero Parchi, Pierluigi Gambetti and Sabina Capellari 34 Fatal Familial and Sporadic Insomnia, 346 Piero Parchi, Sabina Capellari and Pierluigi Gambetti 35 A New Prion Disease: Protease-Sensitive Prionopathy, 350 Pierluigi Gambetti, Gianfranco Puoti, Qingzhong Kong and Wenquan Zou 36 Variant Creutzfeldt-Jakob Disease, 354 James W. Ironside, Mark W. Head and Robert G. Will 37 Gerstmann-Sträussler-Scheinker Disease, 364 Bernardino Ghetti, Fabrizio Tagliavini, Gabor G. Kovacs and Pedro Piccardo 38 Kuru, 378 Catriona Ann McLean 39 Iatrogenic Creutzfeldt-Jakob Disease, 381 James W. Ironside, Richard S.G. Knight and Mark W. Head Part 7 Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis/Motor Neuron Disease 40 Introduction, 389 James Lowe 41 Frontotemporal Lobar Degeneration with TDP-43 Pathology, 393 Ian R.A. Mackenzie and Manuela Neumann 42 Neuronal Intermediate Filament Inclusion Disease, 404 Nigel J. Cairns 43 Frontotemporal Lobar Degeneration with FUS Immunoreactive Inclusions, 412 Manuela Neumann and Ian R.A. Mackenzie 44 Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy, 418 Michael J. Strong, Tibor Hortobágyi, Koichi Okamoto and Shinsuke Kato Part 8 Other Neurodegenerative Disorders 45 Introduction: Genetic Analysis as a Lumper and Splitter in Neurodegenerative Disease, 437 John E. Duda 46 Inherited Amyloidoses and Neurodegeneration: Familial British Dementia and Familial Danish Dementia, 439 Tamas Revesz, Agueda Rostagno, Gordon Plant, Tammaryn Lashley, Blas Frangione, Jorge Ghiso and Janice L. Holton 47 Neurodegeneration with Brain Iron Accumulation, 446 John E. Duda and Kurt A. Jellinger 48 Familial Encephalopathy with Neuroserpin Inclusion Bodies, 456 Richard L. Davis and George H. Collins 49 Hereditary Ferritinopathies, 461 Ruben Vidal, Marie Bernadette Delisle, Olivier Rascol and Bernardino Ghetti Index, 467
List of Contributors, viii Preface, xii List of Abbreviations, xiii Part 1 Introduction: Basic Mechanisms of Neurodegeneration 1 Introduction to Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 3 Dennis W. Dickson 2 Cell Death and Neurodegeneration, 6 Violetta N. Pivtoraiko and Kevin A. Roth 3 Oxidative Stress and Balance in Neurodegenerative Diseases, 10 George Perry, Siddhartha Mondragón-Rodríguez, Akihiko Nunomura, Xiongwei Zhu, Paula I. Moreira and Mark A. Smith 4 Protein Aggregation in Neurodegeneration, 13 Adriano Aguzzi and Veronika Kana 5 Protein Degradation in Neurodegeneration: The Ubiquitin Pathway, 18 Lynn Bedford, Robert Layfi eld, Nooshin Rezvani, Simon Paine, James Lowe and R. John Mayer 6 Genetics of Neurodegeneration, 22 John Hardy 7 Transgenic Animal Models of Proteinopathies, 26 Naruhiko Sahara, Heather Melrose, Simon D'Alton and Jada Lewis Part 2 Alzheimer's Disease and Aging 8 Clinical Aspects of Alzheimer's Disease, 39 David Knopman 9 Genetics of Alzheimer's Disease, 51 Lars Bertram and Rudolph E. Tanzi 10 Neuropathology of Alzheimer's Disease and its Variants, 62 Charles Duyckaerts and Dennis Dickson 11 Amyloid-ß Production, 92 Colin L. Masters and Konrad Beyreuther 12 Elimination of Amyloid ß from the Brain, its Failure in Alzheimer's Disease and Implications for Therapy, 97 Roy O. Weller, Seth Love and James A.R. Nicoll Part 3 Tauopathies 13 Introduction to the Tauopathies, 105 Michel Goedert 14 Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17, 110 Bernardino Ghetti, Zbigniew K. Wszolek, Bradley F. Boeve, Salvatore Spina and Michel Goedert 15 Progressive Supranuclear Palsy and Corticobasal Degeneration, 135 Dennis W. Dickson, Jean-Jaques Hauw, Yves Agid and Irene Litvan 16 Pick's Disease, 156 David G. Munoz, Huw R. Morris and Martin Rossor 17 Argyrophilic Grain Disease, 165 Markus Tolnay and Heiko Braak 18 Parkinsonism-Dementia Complex of Guam, 171 Kiyomitsu Oyanagi, Tomoyo Hashimoto and Mineo Yamazaki 19 Postencephalitic Parkinsonism, 179 Kurt A. Jellinger Part 4 Synucleinopathies 20 Introduction to a-Synucleinopathies, 191 Maria Grazia Spillantini 21 Parkinson's Disease, 194 Kurt A. Jellinger 22 Dementia with Lewy Bodies and Parkinson's Disease Dementia, 224 Paul G. Ince 23 Lewy Bodies in Conditions other than Disorders of a-Synuclein, 238 Coro Paisán-Ruiz, Laura Parkkinen and Tamas Revesz 24 Multiple System Atrophy, 242 Janice L. Holton, Andrew J. Lees and Tamas Revesz Part 5 Trinucleotide Repeat Disorders 25 Introduction to Trinucleotide Repeat Diseases, 255 H. Brent Clark 26 Huntington's Disease, 258 John C. Hedreen and Raymund A.C. Roos 27 Spinocerebellar Ataxias, 273 Hidehiro Mizusawa, H. Brent Clark and Arnulf H. Koeppen 28 Friedreich's Ataxia, 288 Arnulf H. Koeppen 29 Dentatorubral-pallidoluysian Atrophy, 299 Hitoshi Takahashi, Mitsunori Yamada and Shoji Tsuji 30 Spinal and Bulbar Muscular Atrophy, 307 Gen Sobue, Hiroaki Adachi and Masahisa Katsuno Part 6 Prion Disorders 31 Introduction to Prion Disorders, 315 Adriano Aguzzi and Veronika Kana 32 Sporadic Creutzfeldt-Jakob Disease, 322 Herbert Budka, Mark W. Head, James W. Ironside, Pierluigi Gambetti, Piero Parchi and Fabrizio Tagliavini 33 Genetic Creutzfeldt-Jakob Disease, 336 Piero Parchi, Pierluigi Gambetti and Sabina Capellari 34 Fatal Familial and Sporadic Insomnia, 346 Piero Parchi, Sabina Capellari and Pierluigi Gambetti 35 A New Prion Disease: Protease-Sensitive Prionopathy, 350 Pierluigi Gambetti, Gianfranco Puoti, Qingzhong Kong and Wenquan Zou 36 Variant Creutzfeldt-Jakob Disease, 354 James W. Ironside, Mark W. Head and Robert G. Will 37 Gerstmann-Sträussler-Scheinker Disease, 364 Bernardino Ghetti, Fabrizio Tagliavini, Gabor G. Kovacs and Pedro Piccardo 38 Kuru, 378 Catriona Ann McLean 39 Iatrogenic Creutzfeldt-Jakob Disease, 381 James W. Ironside, Richard S.G. Knight and Mark W. Head Part 7 Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis/Motor Neuron Disease 40 Introduction, 389 James Lowe 41 Frontotemporal Lobar Degeneration with TDP-43 Pathology, 393 Ian R.A. Mackenzie and Manuela Neumann 42 Neuronal Intermediate Filament Inclusion Disease, 404 Nigel J. Cairns 43 Frontotemporal Lobar Degeneration with FUS Immunoreactive Inclusions, 412 Manuela Neumann and Ian R.A. Mackenzie 44 Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy, 418 Michael J. Strong, Tibor Hortobágyi, Koichi Okamoto and Shinsuke Kato Part 8 Other Neurodegenerative Disorders 45 Introduction: Genetic Analysis as a Lumper and Splitter in Neurodegenerative Disease, 437 John E. Duda 46 Inherited Amyloidoses and Neurodegeneration: Familial British Dementia and Familial Danish Dementia, 439 Tamas Revesz, Agueda Rostagno, Gordon Plant, Tammaryn Lashley, Blas Frangione, Jorge Ghiso and Janice L. Holton 47 Neurodegeneration with Brain Iron Accumulation, 446 John E. Duda and Kurt A. Jellinger 48 Familial Encephalopathy with Neuroserpin Inclusion Bodies, 456 Richard L. Davis and George H. Collins 49 Hereditary Ferritinopathies, 461 Ruben Vidal, Marie Bernadette Delisle, Olivier Rascol and Bernardino Ghetti Index, 467
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