With cutting-edge contributions from internationally recognized experts and field pioneers, Amyotrophic Lateral Sclerosis is the definitive guide to the subject. Formatted in an easily accessible manner, with summaries of key points at the end of each chapter, this guide covers all the essential information clinicians require for daily practice, as well as providing a reader-friendly approach to every aspect of ALS with detailed sections on the clinical features of disease, translational research, patient care and management, and emerging therapies.
With cutting-edge contributions from internationally recognized experts and field pioneers, Amyotrophic Lateral Sclerosis is the definitive guide to the subject. Formatted in an easily accessible manner, with summaries of key points at the end of each chapter, this guide covers all the essential information clinicians require for daily practice, as well as providing a reader-friendly approach to every aspect of ALS with detailed sections on the clinical features of disease, translational research, patient care and management, and emerging therapies.
Amyotrophic Lateral Sclerosis: A Guide for Patients and Families, 3rd Edition (Large Print 16pt), Volume 2
570Amyotrophic Lateral Sclerosis: A Guide for Patients and Families, 3rd Edition (Large Print 16pt), Volume 2
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Overview
With cutting-edge contributions from internationally recognized experts and field pioneers, Amyotrophic Lateral Sclerosis is the definitive guide to the subject. Formatted in an easily accessible manner, with summaries of key points at the end of each chapter, this guide covers all the essential information clinicians require for daily practice, as well as providing a reader-friendly approach to every aspect of ALS with detailed sections on the clinical features of disease, translational research, patient care and management, and emerging therapies.
Product Details
ISBN-13: | 9781459613744 |
---|---|
Publisher: | ReadHowYouWant, LLC |
Publication date: | 04/07/2011 |
Edition description: | Large Print |
Pages: | 570 |
Product dimensions: | 7.00(w) x 10.00(h) x 1.16(d) |
About the Author
Hiroshi Mitsumoto, Serge Przedborski, Paul H. Gordon
Table of Contents
Foreword iii
Preface vii
Contributors xxi
Overview of Clinical ALS
History of ALS Paul H. Gordon 1
History of Amyotrophic Lateral Sclerosis: Who's Who in ALS? 1
Francois-Amilcar Aran (1817-1861) 1
Guillaume Benjamin Armand Duchenne de Boulogne (1806-1875) 2
Jean-Martin Charcot (1825-1893) 3
Joseph Francois Felix Babinski (1857-1932) 4
Wilhelm Heinrich Erb (1840-1921) 6
Joseph Jules Dejerine (1849-1917) 6
Sir William Richard Gowers (1845-1915) 7
Hiroshi Kawahara (1858-1918) 7
Kinnosuke Miura (1864-1950) 8
W. Russell Brain (1895-1966) 8
Henry Louis Gehrig (1903-1941) 9
Leonard T. Kurland (1921-2001) 10
Forbes H. Norris (1928-1993) 11
Edward H. Lambert (1915-2003) 12
Conclusion 13
References 13
Epidemiology of ALS Valerie McGuire Lorene M. Nelson 17
Introduction 17
Epidemiologic Classification of Forms of ALS 17
Methodological Considerations in ALS Research 18
Descriptive Studies 19
Epidemiology of Familial ALS 23
Analytic Studies 24
Risk Factors for ALS 24
Future Directions 32
Conclusion 33
References 34
The Pathology of Amyotrophic Lateral Sclerosis Arthur P. Hays 43
Introduction 43
Pathology of Sporadic ALS 44
Progressive Muscular Atrophy and Multifocal Motor Neuropathy 57
Primary Lateral Sclerosis 59
ALS-Dementia 60
Familial ALS 61
Closing Remarks 62
References 62
The Causes of Sporadic Amyotrophic Lateral Sclerosis Lewis P. Rowland 81
Introduction 81
Genetic Susceptibility to ALS 81
Transmissible Agents in ALS 82
Autoimmunity in ALS 86
Conclusions 91
References 92
ALS Clinical Motor Signs and Symptoms Valerie A. Cwik 99
Introduction 99
Upper Motor Neuron Features 99
Lower Motor Neuron Features 101
Uncommon Features 111
Progression of Symptoms 112
Conclusion 112
References 113
Frontotemporal Dysfunction in Amyotrophic Lateral Sclerosis Catherine Lomen-Hoerth Michael J. Strong 117
Introduction and Terminology 117
Clinical Features 118
Neuroimaging Correlates 120
Genetics of FTD and ALS 121
Molecular Neuropathology of Frontotemporal Degeneration in ALS 123
ALS, FTD, and the Degenerative Tauopathies 129
Frontotemporal Dysfunction in ALS: Clinical Impact and Prognosis 131
Conclusions 133
References 134
Familial ALS and Genetic Approaches to ALS Teepu Siddique Lisa Dellefave 141
ALS Background 141
Genetic Application to ALS 141
Approaches to Mendelian Inherited ALS 141
Approaches to SALS as a Genetically Complex or Multifactorial Disorder 155
Genetic Testing and Counseling in ALS 157
Remaining Questions to be Answered 158
References 158
Objective Markers of Upper and Lower Motor Neuron Dysfunction: Electrophysiological Studies and Neuroimaging Technologies Clifton L. Gooch Petra Kaufmann Seth Pullman 167
Introduction 167
Electrophysiologic Testing in the Diagnosis of ALS 168
Lower Motor Neuron Disease Markers: Motor Unit Number Estimation 177
Upper Motor Neuron Disease Markers: MRI, MRS, and Other Imaging Studies 183
Upper and Lower Motor Neuron Disease Markers: Transcranial Magnetic Stimulation 186
Summary 190
References 191
Classification, Diagnosis, and Presentation of Diagnosis of ALS David A. Chad 201
Introduction 201
Classification of ALS 201
The Diagnostic Process 205
The Differential Diagnosis of ALS 207
Laboratory Investigations in the Evaluation for ALS 215
Presentation of the Diagnosis 218
Conclusions 220
References 221
Natural History and Prognosis in Amyotrophic Lateral Sclerosis Brian Murray 227
Introduction 227
The Role of Natural History Control Groups in Treatment Trials 228
Preclinical Phase 228
Clinical Subtypes 229
Familial ALS and Genetic Risk Factors 238
Variables of Prognostic Significance 241
Long Duration ALS and Reversible ALS 245
Conclusion 245
References 248
Translational Research in ALS: Mechanisms Behind Therapy
Specifying Motor Neuron Identity in the Developing Spinal Cord Thomas M. Jessell 257
Specification of Generic Motor Neuron Identity 258
Specification of Motor Neuron Columnar Identity 263
Establishing the Divisional Identity and Axonal Trajectory of LMC Neurons 266
The Emergence of Motor Neuron Pool Identity 267
Applied Insights from Pathways of Motor Neuron Differentiation: Turning Embryonic Stem Cells into Motor Neurons 270
Motor Neurons and Motor Control 271
References 272
Neurodegeneration in Amyotrophic Lateral Sclerosis Gabriele Almer Wim Robberecht 279
Introduction 279
ALS or the Tale of the Lumpers and the Splitters 280
Initiation of Motor Neuron Degeneration 281
Natural Course of ALS 283
The Mechanism of Neuronal Death in ALS 285
Neuropathology of ALS Illuminates Its Pathogenesis 285
Neuronal Death Pathways in ALS 287
Factors Contributing to Motor Neuron Death in ALS 289
Common Pathogenic Themes for Motor Neuron Degeneration 291
Conclusion 292
References 293
Excitotoxicity Paul R. Heath Pamela J. Shaw 299
Glutamatergic Neurotransmission 299
Excitotoxicity 308
The Glutamatergic Neurotransmitter System and Motor Neurons 312
Potential Role of Excitotoxicity in ALS 315
Excitotoxicity and Other Motor System Disorders 325
References 326
Superoxide Dismutase, Oxidative Stress, and ALS Joseph S. Beckman Alvaro G. Estevez 339
Introduction 339
Superoxide Dismutase 340
SOD Mutations and ALS 342
Aggregation 344
Zinc-Deficient Diets 348
Summary 349
References 349
Neuronal and Non-neuronal Cell Interactions in ALS Jeffrey L. Elliott 355
Pathologic Evidence for Non-neuronal Cell Involvement in Human ALS 355
Non-neuronal Involvement in a Murine Model of FALS 357
Transgenic, Knockout, and Chimera Mice: Genetic Evidence for Non-neuronal Cell Involvement in ALS 360
Mechanisms of Neuronal and Non-neuronal Cell Interaction 365
Growth Factors: Beneficial Neuronal-Non-neuronal Interactions 368
Non-protein Mediated Cell-Cell Interactions in ALS 371
Conclusion 373
References 373
Apoptosis in Amyotrophic Lateral Sclerosis Ian F. Dunn Robert M. Friedlander 381
Introduction 381
The Genetics of ALS 382
General Overview of Apoptosis 383
The ABCs of ALS: Apoptosis, Bc1-2, and Caspases 386
Conclusion 389
References 389
Cytoskeletal Proteins in the Pathogenesis of ALS Michael J. Strong Jesse McLean Jean-Pierre Julien 395
Introduction 395
Intermediate Filament Metabolism 395
Molecular Neuropathology of ALS Relevant to the Cytoskeleton 399
Non-IF Protein Aggregation 407
Conclusions 409
References 410
Role of Mitochondria in Motor Neuron Degeneration in ALS Zuoshang Xu Jiming Kong 417
Introduction 417
How Mitochondrial Degeneration Develops: Observations in Transgenic Mice Expressing Mutant Cu, Zn Superoxide Dismutase (SOD1) 418
Consequences of Mitochondrial Dysfunction and Degeneration 421
Conclusions and Prospects 425
References 425
Environmental Toxicity and ALS: Novel Insights from an Animal Model of ALS-PDC C. A. Shaw J. M. B. Wilson 435
Introduction 435
Environmental Factors and ALS Clusters 437
A Murine Model of ALS-PDC 440
Discussion 445
References 446
Genetic Causes and Predisposition Silke Schmidt Jeffery M. Vance 449
Introduction 449
Background 449
Association Studies for Sporadic ALS 453
Summary 459
References 459
ALS: A Protein Aggregate Disease? A. Radunovic A. Dawson J. M. Gallo Peter Nigel Leigh 465
Introduction 465
Why Do Proteins Aggregate? 468
Protein Aggregation in ALS and Other Motor Neuron Disorders 469
Protein Aggregation and the Molecular Pathology of Familial ALS 470
In Vitro Evidence for SOD1 Aggregation 472
The Ubiquitin-Proteasome System and ALS 472
Inadequate Cellular Defense 475
Proposed Mechanism of SOD1 Aggregation in ALS 477
Concluding Remarks 478
References 479
Neuroinflammation Albert A. Yen Ericka P. Simpson Stanley H. Appel 487
Introduction 487
Cellular and Biochemical Evidence of Neuroinflammation 488
Evidence for a Role in Initiating Disease 491
Evidence for a Role in Amplifying Disease 493
Evidence for a Role in Repair and Protection 494
Conclusion 496
References 496
The Potential of Gene Therapy for Motor Neuron Diseases Cedric Raoul Patrick Aebischer 505
Therapeutic Context 505
Gene Transfer Technology for MND Therapy 509
Conclusion 517
References 518
Experimental Models of Motor Neuron Diseases Makiko Nagai Hitoshi Kikuchi Serge Przedborski 525
Introduction 525
Genetically Based Models of Motor Neuron Diseases 526
Models of Motor Neuron Disease Due to Neurotoxins 538
Immune-Mediated Models of Motor Neuron Diseases 539
Infection-Mediated Models of Motor Neuron Diseases 539
Conclusion 540
References 541
Screening for ALS Drugs Thierry Bordet Rebecca Pruss Christopher E. Henderson 551
The Drug Screening Process Today 551
Specific Considerations in Screening for ALS 557
Drug Discovery Focused on the Motor Neuron: Trophos as an Example 566
Recent Approaches in Drug Discovery and Clinical Trials 569
Perspectives 577
References 577
Clinical Trial Methodology Paul H. Gordon 583
Introduction 583
Drug Development and Translational Research 583
Choosing Trial Candidates: Patient Inclusion and Exclusion Criteria 585
Assessments and Outcome Measures 586
Study Design 592
Biostatistical Support 594
Regulatory Oversight 596
Organizational Structure 597
Ethical Issues 597
Summary 599
References 599
ALS Therapy: Care and Management
The Multidisciplinary Care Clinic: The Principles and an International Perspective Hiroshi Mitsumoto Gian Domenico Borasio Angela L. Genge Orla Hardiman Peter Nigel Leigh Vincent Meininger Wim Robberecht Toyokazu Saito Markus Weber 605
Introduction 605
The Multidisciplinary Care Clinic 607
International Perspectives 614
Challenges and Conclusions 630
References 630
The ALS Patient Care Program-North American Patient Care Database Robert G. Miller Fred Anderson Neelam Gowda Wei Huang Walter G. Bradley Benjamin R. Brooks Hiroshi Mitsumoto Dan H. Moore Steve Ringel Linda Boynton De Sepulveda Laura Coker Noah Lechtzin Mark Ross 633
Introduction 634
Methods 634
Results 637
References 646
Symptomatic Pharmacotherapy: Bulbar and Constitutional Symptoms Carlayne E. Jackson Jeffrey Rosenfeld 649
Introduction 649
Symptoms Related to Bulbar Weakness 649
Symptoms Related to Upper Motor Neuron Degeneration 653
Symptoms Related to Immobility 656
Symptoms Related to Anxiety and Depression 661
Summary 662
References 663
ALS Pharmacotherapy: Riluzole and Clinical Trials Petra Kaufmann 665
Introduction 665
Riluzole 666
Recent ALS Clinical Trials 669
Issues That May have Negatively Affected Recent ALS
Clinical Trials 679
Conclusion 683
References 683
Rehabilitation Lisa S. Krivickas Vanina Dal Bello-Haas Suzanne E. Danforth Gregory T. Carter 691
Introduction 691
Exercise 692
Muscle Weakness 694
Management of Musculoskeletal Pain 708
Spasticity 710
Dysarthria and Communication 711
Swallowing and Dysphagia 714
Summary 717
References 717
Nutritional Treatment: Theoretical and Practical Issues Lan Chi T. Luu Edward J. Kasarskis Rup Tandan 721
Introduction 721
Theoretical Issues 722
Practical Issues 727
Conclusion 733
Glossary 733
References 734
Respiratory Care in Amyotrophic Lateral Sclerosis Terry Heiman-Patterson Loutfi S. Aboussouan 737
Introduction 737
Pulmonary Physiology and Pathophysiology 737
Clinical Evaluation 741
Respiratory Management 747
Summary 754
References 755
Psychosocial Care for Patients with ALS and Their Caregivers Gian Domenico Borasio Mark Bromberg Maura L. Del Bene Hiroshi Mitsumoto 761
Introduction 761
Patient and Caregiver Education 762
Care for Informal Caregivers 762
Sexuality and Intimacy 767
Addressing the Needs of Children 768
Spirituality 769
Bereavement 772
End-of-Life Choices and Expectations 775
Being "Present" with the Dying Patient 776
Psychological Aspects of Withdrawal of Ventilation 777
References 778
Palliative Care at the End of Life Nigel P. Sykes 783
The Philosophy of Palliative Care-When does Palliative Care Begin? 783
Recognizing the Terminal Phase 783
Ethical Issues 784
Supporting the Patient 787
Supporting Significant Others 790
Supporting the Professionals 791
Symptom Control at the End of Life 792
Summary 795
References 796
Palliative Care: Family Perspective Steven M. Albert Judith G. Rabkin Maura L. Del Bene 799
Introduction 799
Palliative Care and Hospice Use in the Terminal Period 800
Family as Caregivers 801
Daily Caregiving Challenges in End-of-Life Care 802
Caregiver Burden, Distress, and Depression 803
Caregiving and Positive Mood 804
Caregiver Recognition of Dying and the End of Life 804
Decisions to Use Home Hospice 805
Medical Professionals in the Home 805
After the Death 806
Conclusion 806
References 807
End-of-Life Decision Making Linda Ganzini Wendy Johnston 811
Introduction 811
References 822
Index 825
About the Editors 831