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Book Details
Abstract
Dr. Richard Barohn and Dr. Mazen Dimachkie lead this publication on Motor Neuron Disease. Focus is on ALS, with inclusion of primary lateral sclerosis, primary muscular atrophy, leg amyotrophic diplegia, brachial amyotropic diplegia, and isolate bulbar ALS. Among the topics presented are. Patterns of weakness, classification of motor neuron disease & clinical diagnosis of sporadic ALS; Potential environmental factors in ALS; Neuropathology; Spinal muscular atrophy; Complementary and alternative therapies in ALS frontotemporal dysfunction and dementia in ALS; Symptoms management and end of life care; Research approaches to slowing progression of ALS; Familial ALS; Kennedy disease and more. Information in this issue presents: Description of the problem (Incidence, Prevalence, Severity, Natural history); 2. Review of pertinent data; Controversial areas discussing aspects such as areas of practice for which there are disagreements and why? What are the arguments and counter arguments and what data support them?; Conclusions using levels of clinical evidence that support or refute an intervention. Procedural steps are provided for diagnostic and treatment discussions along with clinical cases.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Motor Neuron Disease | ii | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| CONSULTING EDITOR | iii | ||
| EDITORS | iii | ||
| AUTHORS | iii | ||
| Contents | vii | ||
| Preface: Motor Neuron Disease\r | vii | ||
| Amyotrophic Lateral Sclerosis: A Historical Perspective\r | vii | ||
| Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclero ... | vii | ||
| Primary Lateral Sclerosis\r | vii | ||
| Progressive Muscular Atrophy\r | viii | ||
| Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulb ... | viii | ||
| Frontotemporal Dysfunction and Dementia in Amyotrophic Lateral Sclerosis\r | viii | ||
| Familial Amyotrophic Lateral Sclerosis\r | viii | ||
| Spinal Muscular Atrophy\r | ix | ||
| Spinal and Bulbar Muscular Atrophy\r | ix | ||
| Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants\r | ix | ||
| Potential Environmental Factors in Amyotrophic Lateral Sclerosis\r | ix | ||
| Symptom Management and End-of-Life Care in Amyotrophic Lateral Sclerosis\r | x | ||
| Complementary and Alternative Therapies in Amyotrophic Lateral Sclerosis\r | x | ||
| The Dilemma of the Clinical Trialist in Amyotrophic Lateral Sclerosis: The Hurdles to Finding a Cure\r | x | ||
| NEUROLOGIC CLINICS\r | xi | ||
| FORTHCOMING ISSUES | xi | ||
| February 2016 | xi | ||
| May 2016 | xi | ||
| August 2016 | xi | ||
| RECENT ISSUES | xi | ||
| August 2015 | xi | ||
| May 2015 | xi | ||
| February 2015 | xi | ||
| Motor Neuron Disease | xiii | ||
| REFERENCES | xiv | ||
| Amyotrophic Lateral Sclerosis | 727 | ||
| Key points | 727 | ||
| REFERENCES | 733 | ||
| Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis | 735 | ||
| Key points | 735 | ||
| PATTERNS OF WEAKNESS | 735 | ||
| Asymmetric Distal Weakness Without Sensory Loss (NP5) | 736 | ||
| Symmetric Weakness Without Sensory Loss (NP7) | 736 | ||
| Focal Midline Proximal Symmetric (NP8) | 736 | ||
| CLASSIFICATION OF MOTOR NEURON DISEASES | 737 | ||
| Pure Lower Motor Neuron Disease | 737 | ||
| Mixed Upper and Lower Motor Neuron Diseases | 737 | ||
| Pure Upper Motor Neuron Diseases | 737 | ||
| AMYOTROPHIC LATERAL SCLEROSIS | 740 | ||
| Prevalence and Epidemiology | 740 | ||
| Clinical Findings | 741 | ||
| History of Amyotrophic Lateral Sclerosis Diagnostic Criteria | 741 | ||
| Diagnosis | 743 | ||
| Clinical Course | 744 | ||
| Therapeutic Strategies | 745 | ||
| SUMMARY AND FUTURE DIRECTIONS | 745 | ||
| DISCLOSURE | 746 | ||
| REFERENCES | 746 | ||
| Primary Lateral Sclerosis | 749 | ||
| Key points | 749 | ||
| INTRODUCTION | 749 | ||
| CLINICAL FINDINGS | 750 | ||
| CASE HISTORY | 751 | ||
| DIAGNOSIS | 752 | ||
| Electromyogram | 753 | ||
| Imaging | 753 | ||
| Summary | 754 | ||
| PATHOPHYSIOLOGY | 754 | ||
| Autopsy | 755 | ||
| Genetics | 756 | ||
| Summary | 756 | ||
| PROGNOSIS | 756 | ||
| THERAPEUTIC STRATEGIES | 756 | ||
| SUMMARY AND FUTURE DIRECTIONS | 757 | ||
| DISCLOSURE | 757 | ||
| REFERENCES | 757 | ||
| Progressive Muscular Atrophy | 761 | ||
| Key points | 761 | ||
| INTRODUCTION | 761 | ||
| EPIDEMIOLOGY | 762 | ||
| CLINICAL PRESENTATION | 762 | ||
| PATHOPHYSIOLOGY | 763 | ||
| DIAGNOSIS | 764 | ||
| SUBCLINICAL UPPER MOTOR NEURON INVOLVEMENT IN PROGRESSIVE MUSCULAR ATROPHY | 764 | ||
| Imaging Biomarkers of Upper Motor Neuron Involvement | 765 | ||
| Neurophysiologic Biomarkers of Upper Motor Neuron Involvement | 765 | ||
| DIFFERENTIAL DIAGNOSIS | 765 | ||
| Motor Neuron Diseases | 765 | ||
| Motor Neuropathies | 767 | ||
| Neuromuscular Junction Disorders | 768 | ||
| Myopathies | 768 | ||
| MANAGEMENT | 768 | ||
| SUMMARY | 768 | ||
| ACKNOWLEDGMENTS | 769 | ||
| REFERENCES | 769 | ||
| Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulb ... | 775 | ||
| Key points | 775 | ||
| INTRODUCTION | 775 | ||
| BRACHIAL AMYOTROPHIC DIPLEGIA | 777 | ||
| Clinical Features | 777 | ||
| Diagnosis | 779 | ||
| Prognosis | 780 | ||
| LEG AMYOTROPHIC DIPLEGIA | 780 | ||
| Clinical Features | 780 | ||
| Diagnosis | 781 | ||
| Prognosis | 781 | ||
| ISOLATED BULBAR AMYOTROPHIC LATERAL SCLEROSIS | 782 | ||
| Diagnosis | 783 | ||
| Prognosis | 783 | ||
| SUMMARY AND FUTURE DIRECTIONS | 783 | ||
| DISCLOSURE STATEMENT | 784 | ||
| REFERENCES | 784 | ||
| Frontotemporal Dysfunction and Dementia in Amyotrophic Lateral Sclerosis | 787 | ||
| Key points | 787 | ||
| INTRODUCTION | 787 | ||
| ILLUSTRATIVE CASE | 788 | ||
| COGNITIVE DEFICITS IN AMYOTROPHIC LATERAL SCLEROSIS | 791 | ||
| MILD BEHAVIORAL IMPAIRMENT IN AMYOTROPHIC LATERAL SCLEROSIS | 792 | ||
| PSYCHIATRIC SYMPTOMS IN AMYOTROPHIC LATERAL SCLEROSIS | 793 | ||
| DETECTION OF AMYOTROPHIC LATERAL SCLEROSIS–FRONTOTEMPORAL DEMENTIA, AMYOTROPHIC LATERAL SCLEROSIS WITH COGNITIVE IMPAIRMENT ... | 794 | ||
| NEUROIMAGING | 795 | ||
| MOLECULAR, CLINICAL, AND NEUROPATHOLOGIC CORRELATES OF FRONTOTEMPORAL DYSFUNCTION IN AMYOTROPHIC LATERAL SCLEROSIS | 795 | ||
| CURRENT CONTROVERSIES | 799 | ||
| Longitudinal Assessment | 799 | ||
| Behavioral Assessment | 799 | ||
| REFERENCES | 799 | ||
| Familial Amyotrophic Lateral Sclerosis | 807 | ||
| Key points | 807 | ||
| BACKGROUND | 807 | ||
| RECENT TECHNOLOGICAL DEVELOPMENTS AND AMYOTROPHIC LATERAL SCLEROSIS GENE DISCOVERY | 808 | ||
| Clinical Spectrum of Amyotrophic Lateral Sclerosis Genetics | 808 | ||
| GENETIC SUSCEPTIBILITY TO AMYOTROPHIC LATERAL SCLEROSIS | 809 | ||
| FAMILIAL INHERITANCE PATTERNS IN AMYOTROPHIC LATERAL SCLEROSIS | 809 | ||
| GENE VARIANTS LINKED TO AMYOTROPHIC LATERAL SCLEROSIS PATHOGENESIS | 810 | ||
| Chromosome 9 Open Reading Frame 72 | 814 | ||
| Superoxide Dismutase 1 | 814 | ||
| Transactive Response DNA Binding Protein 43 | 815 | ||
| Fused in Sarcoma | 815 | ||
| Other Risk Genes and Insights from Genetics on the Pathogenesis of Amyotrophic Lateral Sclerosis | 816 | ||
| Amyotrophic Lateral Sclerosis Susceptibility Genes Associated with Lower Risk and Potential Disease-Modifying Genes | 817 | ||
| EPIGENETICS OF AMYOTROPHIC LATERAL SCLEROSIS | 817 | ||
| AMYOTROPHIC LATERAL SCLEROSIS GENE TESTING IN CLINICAL PRACTICE | 817 | ||
| Considerations in the Clinical Application of DNA Testing in Amyotrophic Lateral Sclerosis | 818 | ||
| SUMMARY | 820 | ||
| REFERENCES | 821 | ||
| Spinal Muscular Atrophy | 831 | ||
| Key points | 831 | ||
| INCIDENCE | 831 | ||
| PREVALENCE | 831 | ||
| SEVERITY | 831 | ||
| NATURAL HISTORY | 832 | ||
| INTRODUCTION | 832 | ||
| CLINICAL FEATURES | 832 | ||
| Spinal Muscular Atrophy Type 0 | 833 | ||
| Spinal Muscular Atrophy Type 1 | 833 | ||
| Spinal Muscular Atrophy Type 2 | 833 | ||
| Spinal Muscular Atrophy Type 3 | 835 | ||
| Spinal Muscular Atrophy Type 4 | 835 | ||
| MOLECULAR GENETICS | 835 | ||
| Molecular Pathology | 837 | ||
| CLINICAL MANAGEMENT | 837 | ||
| Pulmonary | 838 | ||
| Gastrointestinal and Nutritional | 838 | ||
| Orthopedic and Musculoskeletal Complications | 839 | ||
| THERAPEUTIC DEVELOPMENT | 839 | ||
| Small Molecule Therapy | 840 | ||
| RNA-Based Therapy | 840 | ||
| Gene Therapy | 841 | ||
| SUMMARY | 842 | ||
| REFERENCES | 842 | ||
| Spinal and Bulbar Muscular Atrophy | 847 | ||
| Key points | 847 | ||
| INTRODUCTION | 847 | ||
| MECHANISM | 848 | ||
| DISEASE COURSE | 848 | ||
| DIAGNOSIS | 849 | ||
| CLINICAL CASE | 850 | ||
| MANAGEMENT | 850 | ||
| A DISEASE OF NERVE OR MUSCLE? | 851 | ||
| SUMMARY | 851 | ||
| REFERENCES | 852 | ||
| Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants | 855 | ||
| Key points | 855 | ||
| INTRODUCTION | 855 | ||
| CLASSIC AMYOTROPHIC LATERAL SCLEROSIS NEUROPATHOLOGY | 856 | ||
| Gross | 856 | ||
| Microscopic | 856 | ||
| MOLECULAR NEUROPATHOLOGY: INCLUSIONS AND PROTEINOPATHIES | 857 | ||
| Ubiquitin | 857 | ||
| TDP-43 | 859 | ||
| SEQUENTIAL CHANGES AND NEUROPATHOLOGIC STAGING | 859 | ||
| Cellular and Microscopic | 859 | ||
| Anatomic Distribution of Pathologic Changes | 861 | ||
| FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS: GENETICS AND ASSOCIATED DISEASE | 864 | ||
| SOD1 | 864 | ||
| TDP-43 | 865 | ||
| Fused in Sarcoma/Translocated in Sarcoma | 865 | ||
| C9orf72 | 865 | ||
| AMYOTROPHIC LATERAL SCLEROSIS VARIANTS | 866 | ||
| Primary Lateral Sclerosis | 866 | ||
| Progressive Muscular Atrophy | 867 | ||
| Overlap FTD | 867 | ||
| Spinal Muscular Atrophy | 867 | ||
| Hereditary Spastic Paraparesis | 867 | ||
| FUTURE DIRECTIONS AND FINAL REMARKS | 867 | ||
| ACKNOWLEDGMENTS | 868 | ||
| REFERENCES | 868 | ||
| Potential Environmental Factors in Amyotrophic Lateral Sclerosis | 877 | ||
| Key points | 877 | ||
| Introduction | 877 | ||
| Gene-environment interaction | 878 | ||
| Proposed environmental factors | 879 | ||
| Gender | 879 | ||
| Geographic Region | 880 | ||
| Clusters | 880 | ||
| Amyotrophic Lateral Sclerosis/Parkinson-Dementia Complex | 880 | ||
| Smoking | 881 | ||
| Occupational Risks | 881 | ||
| Lead | 882 | ||
| Physical Exercise | 882 | ||
| Trauma | 882 | ||
| Agricultural Chemicals | 883 | ||
| Other | 883 | ||
| Combined oxidative stress theory | 883 | ||
| Summary | 884 | ||
| References | 884 | ||
| Symptom Management and End-of-Life Care in Amyotrophic Lateral Sclerosis | 889 | ||
| Key points | 889 | ||
| Sialorrhea | 890 | ||
| Pseudobulbar affect | 891 | ||
| Sleep disruption | 891 | ||
| Respiratory insufficiency | 892 | ||
| Fatigue | 894 | ||
| Nutrition | 896 | ||
| Pain | 897 | ||
| Spasticity | 897 | ||
| Laryngospasm | 898 | ||
| Jaw Quivering/Cheek Biting | 898 | ||
| Edema | 899 | ||
| Constipation and Urinary Urgency | 899 | ||
| Depression and Anxiety | 900 | ||
| End of Life | 901 | ||
| Summary | 902 | ||
| Disclosure | 902 | ||
| References | 903 | ||
| Complementary and Alternative Therapies in Amyotrophic Lateral Sclerosis | 909 | ||
| Key points | 909 | ||
| Introduction | 909 | ||
| Types of complementary and alternative medicine that people with amyotrophic lateral sclerosis commonly ask about | 910 | ||
| Diets and Nutritional Supplements | 910 | ||
| Catechins | 914 | ||
| Coenzyme Q10 | 914 | ||
| Creatine | 914 | ||
| Ibedenone | 915 | ||
| l-carnitine | 915 | ||
| Omega-3 | 915 | ||
| Resveratrol | 916 | ||
| Vitamin A | 916 | ||
| Homocysteine | 916 | ||
| Thiamine | 917 | ||
| Riboflavin | 917 | ||
| Vitamin C | 917 | ||
| Vitamin D | 917 | ||
| Vitamin E | 917 | ||
| Cannabis | 917 | ||
| Biochemistry of the cannabis plant | 918 | ||
| Clinical uses cannabis in patients with amyotrophic lateral sclerosis | 919 | ||
| Acupuncture | 920 | ||
| Mechanisms | 920 | ||
| Potential uses in amyotrophic lateral sclerosis | 921 | ||
| Costs and risks | 921 | ||
| Chelation | 922 | ||
| Approved use | 922 | ||
| Alternative use | 922 | ||
| Use in patients with amyotrophic lateral sclerosis | 922 | ||
| Risks | 922 | ||
| Energy Healing | 922 | ||
| Energy healing in medicine | 923 | ||
| Energy healing in amyotrophic lateral sclerosis | 923 | ||
| Costs and risks | 923 | ||
| Options for reviewing complementary and alternative medicine with people with amyotrophic lateral sclerosis | 923 | ||
| Paternalism | 923 | ||
| Autonomy | 924 | ||
| Shared Decision Making | 924 | ||
| Summary | 925 | ||
| References | 925 | ||
| The Dilemma of the Clinical Trialist in Amyotrophic Lateral Sclerosis | 937 | ||
| Key points | 937 | ||
| Report | 937 | ||
| Case examples of trial challenges | 943 | ||
| References | 946 | ||
| Index | 949 |