Amyotrophic Lateral Sclerosis: A Guide for Patients and Families, 3rd Edition (Large Print 16pt), Volume 2

by Hiroshi Mitsumoto

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

Editorial Reviews

5 Stars! from Doody

This book deals with the complex and often devastating disease known as ALS. It is one of the latest in the list of excellent monographs published in the Contemporary Neurology Series. As mentioned in the preface, this is the first book on ALS written by only a few authors and as such, their efforts are directed towards presenting cohesive and balanced information on the disease with emphasis on the diagnosis and management of patients with ALS. Being fascinated myself by this clinical entity, I have found this book to be a laudable effort. It will be of most benefit to the practicing neurologist caring for patients with this disease, and trainees in neurology, as well as other healthcare professionals involved in the care of these patients (and I hasten to add that the role of such caregivers is by no means minor when it comes to ALS). All will find this book to be an indispensable reference written by eminent authorities in this field. The authors have divided the topic into four major sections: an introduction; clinical features; pathology and pathogenesis; and treatment and management. The literary style makes the book very readable and each chapter features tables and figures emphasizing the main points. In addition, and this I feel is an important feature, there is a detailed summary at the end of each chapter that provides the reader with a quick review of the important ideas. This book is a ""must-have"" for the neurologist interested in ALS. For students and other professionals taking care of patients with ALS, this is an excellent resource worth having in the library.

Miguel Zialcita III

Reviewer: Miguel Zialcita III, MD (University of Illinois at Chicago College of Medicine)
Description: This book deals with the complex and often devastating disease known as ALS. It is one of the latest in the list of excellent monographs published in the Contemporary Neurology Series.
Purpose: As mentioned in the preface, this is the first book on ALS written by only a few authors and as such, their efforts are directed towards presenting cohesive and balanced information on the disease with emphasis on the diagnosis and management of patients with ALS. Being fascinated myself by this clinical entity, I have found this book to be a laudable effort.
Audience: It will be of most benefit to the practicing neurologist caring for patients with this disease, and trainees in neurology, as well as other healthcare professionals involved in the care of these patients (and I hasten to add that the role of such caregivers is by no means minor when it comes to ALS). All will find this book to be an indispensable reference written by eminent authorities in this field.
Features: The authors have divided the topic into four major sections: an introduction; clinical features; pathology and pathogenesis; and treatment and management. The literary style makes the book very readable and each chapter features tables and figures emphasizing the main points. In addition, and this I feel is an important feature, there is a detailed summary at the end of each chapter that provides the reader with a quick review of the important ideas.
Assessment: This book is a "must-have" for the neurologist interested in ALS. For students and other professionals taking care of patients with ALS, this is an excellent resource worth having in the library.

Doody's Review Service