Peripheral Nerve Disorders

Handbook of Clinical Neurology 3rd Series

Foreword

Preface

Contributors

Section 1: Introduction

Chapter 1. Prelude to the peripheral neuropathies

Section 2: Structure and function

Chapter 2. Microscopic anatomy: normal structure

The nerve trunk

Development

Aging

Conclusions

References

Chapter 3. Gross anatomy and development of the peripheral nervous system

Introduction

Gross anatomy

Development of the PNS

Conclusion

References

Chapter 4. Physiology and pathophysiology of myelinated nerve fibers

Introduction

Axonal structure and function

Fluctuations in excitability with impulse transmission

Assessment of nerve excitability in a clinical setting

Mechanisms of conduction block

Impulse conduction in demyelinating neuropathies

Multifocal motor neuropathy, axonal hyperpolarization, and conduction block

Conclusions

References

Chapter 5. Biology of Schwann cells

Introduction

Schwann cell development and differentiation

Biology of Schwann cell myelination

Nonmyelinating (remak) Schwann cells

Schwann cells in wallerian degeneration and regeneration

Conclusions and perspectives

References

Chapter 6. Neurophysiological approach to disorders of peripheral nerve

Introduction

Pathological changes in peripheral nerve disorders

Electromyography (EMG)

Nerve conduction studies

Special studies

Relation between clinical manifestations and neurophysiological findings

Differential diagnosis of the patient with peripheral nerve disorders

Mononeuropathies/multiple mononeuropathies

Polyneuropathies with axonal loss and an acute/subacute onset (subtype 3A)

Polyneuropathies with axonal loss and slow onset (subtype 3B)

Demyelinating polyneuropathy with acute/subacute onset (subtype 3C)

Demyelinating polyneuropathy with slow onset (subtype 3D)

References

Chapter 7. Testing the autonomic nervous system

Introduction

History

Background physiology

Molecular determinants of autonomic control

Clinical tests of autonomic function

Tests of sympathetic adrenergic function

Assessment of sympathetic cholinergic sudomotor function

Research tests

References

Chapter 8. Imaging of the peripheral nervous system

Introduction

Magnetic resonance imaging

Acknowledgment

References

Chapter 9. The nerve biopsy: indications, technical aspects, and contribution

Introduction: indications

Surgical procedure

Laboratory techniques

Interpretation

Diagnostic findings

Conclusions

References

Chapter 10. The cutaneous nerve biopsy: technical aspects, indications, and contribution

Introduction

Technical aspects of skin biopsy for studying cutaneous nerve fibers

Indications for skin biopsy to evaluate cutaneous nerve fibers

Contribution of cutaneous nerve biopsy in peripheral nerve disease

Conclusions

References

Chapter 11. Antibody testing in peripheral nerve disorders

Part 1

Part 2

Part 3

References

Chapter 12. DNA testing in hereditary neuropathies

Introduction

Phenotypic Guides to Genetic Testing

Detailed Guide to Genetic Testing

Methods of Genetic Testing

Advances in Genetic Testing

Genetic Counseling

Conclusions and Future Developments

Acknowledgments

References

Further Reading

Section 3: Clinical aspects

Chapter 13. Examination and clinical care of the patient with neuropathy

Introduction

Motor abnormalities

Autonomic dysfunction in peripheral neuropathy

Synthesis of clinical manifestations

Electrodiagnostic examination

Imaging of the peripheral nervous system

Cerebrospinal fluid examination

DNA testing in hereditary neuropathies

Indication of biopsy of sensory nerves

Conclusion

References

Chapter 14. How to explore a patient with a chronic axonal polyneuropathy

Introduction

Epidemiology

Diagnosis

Role of laboratory testing

Role of genetic testing

Role of clinical autonomic testing

Role of nerve biopsy

Role of skin biopsy

Etiologies of chronic polyneuropathies

Conclusion

References

Chapter 15. Evaluation of a patient with suspected chronic demyelinating polyneuropathy

Introduction

Clinical evaluation findings suggesting chronic demyelinating neuropathy

Laboratory investigations

Neuroimaging

Role of pathological assessment

Summary

References

Chapter 16. Sensory-motor assessment in clinical research trials

Introduction

The clinimetric aspects of sensory-motor evaluation

Measures of motor function in clinical research

Measures of sensory function in clinical research

Conclusions

Acknowledgments

References

Chapter 17. Management of painful neuropathies

Introduction

Classification of peripheral neuropathies

Animal models in painful neuropathies

Prevention of painful neuropathies

Treatment of underlying neuropathy

Symptomatic pharmacological treatment of neuropathic pain

Nonpharmacological treatment of neuropathic pain

Disease-specific treatment recommendations

Treatment algorithm

General treatment principles

Advances in the treatment of painful neuropathies

References

Section 4: Plexus and compression lesions

Chapter 18. Diagnosis of brachial and lumbosacral plexus lesions

Clinical introduction

Brachial plexus lesions

Specific disorders of the brachial plexus

Lumbosacral plexus lesions

Specific disorders of the lumbosacral plexus

Symptomatic treatment and prognosis of plexopathies

References

Chapter 19. Compression and entrapment neuropathies

Introduction

Upper limb

Lower limb

Acknowledgment

References

Chapter 20. Facial nerve palsy and hemifacial spasm

Introduction

Functionally relevant anatomical particularities of the facial nerve

peripheral facial palsy

Hemifacial spasm

Clinical and electrophysiological differences between postparalytic facial syndrome and essential hemifacial spasm

Treatment options

References

Section 5: Inflammatory root and nerve lesions

Chapter 21. The Guillain–Barré syndrome

Introduction

Epidemiology

Clinical features and antecedent infections

Diagnosis

Pathophysiology

Experimental model

Treatment

Acknowledgments

References

Chapter 22. Chronic inflammatory demyelinative polyneuropathy

Introduction

Epidemiology

Clinical manifestations of CIDP

Precipitating factors

Age of patients

Neurological manifestations at onset

Neurological manifestations at referral or at steady state

Clinical variants of CIDP

Clinical course and prognosis

Electrophysiological data

Neuroimaging

Morphological findings

Immunological factors

Differential diagnosis

Treatment

References

Chapter 23. Treatment of chronic inflammatory demyelinating polyradiculoneuropathy

Introduction

Corticosteroids

Plasma Exchange

Immunoadsorption

Intravenous immunoglobulin (IVIg)

Azathioprine

Cyclophosphamide

Methotrexate

Interferon-Beta

Ciclosporin

Alemtuzumab

Rituximab

Stem cell transplantation

Practice of clinical treatment in CIDP

Summary

Acknowledgment

References

Chapter 24. Multifocal motor neuropathy

Introduction

History

Clinical features

Course and prognosis

Differential diagnoses

Diagnostic criteria

Treatment

Immunopathogenesis of multifocal motor neuropathy

Axonal dysfunction in MMN

Conclusion

References

Chapter 25. Neuropathy and monoclonal gammopathy

Introduction

Monoclonal gammopathy

Neuropathy and monoclonal gammopathy

Neuropathy and IgM monoclonal gammopathy

Neuropathy and IgG monoclonal gammopathy

Neuropathy and IgA monoclonal gammopathy

Poems syndrome

References

Section 6: Neuropathy in connective tissue disorders

Chapter 26. Vasculitic neuropathy

Introduction

Classification and epidemiology

Clinical aspects

Treatment

References

Chapter 27. Sarcoidosis of the peripheral nervous system

Introduction

History

Epidemiology

Genetics

Neurobiological basis

Symptoms and signs of sarcoid neuropathy

Sarcoidosis: a multisystem disease

Central nervous system and meningeal involvement in sarcoidosis

Other organs most often involved in sarcoidosis

Course

Electrophysiology

Pathology

Diagnosis

Treatment

Conclusion

References

Section 7: Neuropathy in infectious disorders

Chapter 28. Leprous neuropathy

Introduction

Epidemiology

Mycobacterium leprae

Pathogenesis

Genetic studies

Transmission

Classification

Sensory motor manifestations

Clinical forms

Immunological status

Nerve enlargement

Reactions

Relapse

Leprosy and HIV

Diagnosis

Differential diagnosis

Treatment

Rehabilitation

Prevention

Conclusion

References

Chapter 29. HIV peripheral neuropathy

Introduction

Epidemiology of the peripheral neuropathies

Clinical presentations

AIDP and CIDP

Mononeuropathies, mononeuropathies multiplex, and cranial neuropathies

Herpes zoster

Autonomic neuropathy

Lumbosacral polyradiculomyelopathy

Amyotrophic lateral sclerosis-like motor neuropathy

References

Chapter 30. Human T-cell leukemia virus (HTLV)-associated neuropathy

Introduction

Epidemiology

HTLV-1 Virus infection and the immune response

Clinical features

HTLV-1 Infection diagnosis

Neurophysiological findings in HTLV-1

Pathology

HTLV Neuropathy and coinfections

Differential diagnosis

Treatment and prevention

Conclusion

References

Chapter 31. Herpes virus infection of the peripheral nervous system

Introduction

The three neurotropic herpes viruses

Peripheral nervous system disorders due to human cytomegalovirus

Treatment

Disclosure

References

Chapter 32. Lyme neuroborreliosis

List of abbreviations

Introduction

Epidemiology and etiology

Clinical features of lyme neuroborreliosis

Pathogenesis and pathology of lyme neuroborreliosis

Diagnostic laboratory findings in lyme neuroborreliosis

Electrophysiological findings in lyme neuroborreliosis

Diagnostic neuroimaging in lyme neuroborreliosis

Differential diagnoses of lyme neuroborreliosis

Therapy and prevention

Post-Lyme disease syndrome and “chronic lyme disease”

References

Section 8: Neuropathy and metabolic disorders

Chapter 33. Diabetic neuropathy

Introduction

Epidemiology

Clinical aspects of diabetic neuropathy

Nerve conduction studies

The pathology of diabetic neuropathies

Additional causes of neuropathy in diabetic patients

Pathophysiology of diabetic neuropathy

Treatment of diabetic neuropathy

Conclusion

References

Chapter 34. Biology of diabetic neuropathy

Introduction

Linking clinical manifestations to cellular mechanisms

Neuronal injury mechanisms downstream of hyperglycemia pathways and loss of insulin signaling

Other significant factors leading to neuropathic mechanisms in diabetes

Conclusion

References

Chapter 35. Uremic neuropathy

Introduction

Uremic polyneuropathy

Role for hyperparathyroidism?

Serum k⁺ between periods of dialysis

Conclusion

References

Chapter 36. Porphyric neuropathy

Abbreviations

Introduction

Historical perspectives

Heme biosynthesis pathway

Types of acute porphyria

Clinical features of porphyria

Laboratory investigations

Treatment and management

Pathophysiological mechanisms of neurotoxicity

Experimental models of porphyric neuropathy

Biophysical changes in the axon in porphyric neuropathy

Future directions

Conclusions

References

Chapter 37. Fabry disease

Introduction

Historical aspects

Epidemiology

Clinical manifestations

Peripheral neuropathy and pathophysiology

Genetics

Diagnosis

Treatment

Basic research

Conclusions

References

Chapter 38. Transthyretin familial amyloid polyneuropathy

Introduction

Historical aspects

Genetics

Neurobiological basis: pathophysiology of amyloid formation

Clinical features

Course

Electrophysiology

Pathology

Diagnosis

Management of patients

Conclusion

References

Chapter 39. Hereditary gelsolin amyloidosis

Introduction

Epidemiology

Genealogy

Clinical findings

Results of special investigations in hereditary gelsolin amyloidosis

Morphological and immunohistochemical findings

Biochemistry and molecular genetics

Pathogenesis

Diagnosis of hereditary gelsolin amyloidosis

Treatment and follow-up of hereditary gelsolin amyloidosis

Conclusion

Note added in proof

References

Section 9: Neuropathy and malignancy

Chapter 40. Malignant cell infiltration in the peripheral nervous system

Introduction

Cranial nerve neuropathies

Nerve roots

Nerve plexus

Mononeuropathies

Paraneoplastic polyneuropathies

Conclusion

Acknowledgment

References

Chapter 41. Paraneoplastic neuropathy

Introduction

Types of neuropathy

Antibodies associated with paraneoplastic neuropathy

Pathogenesis

Diagnosis

Treatment

Conclusions

References

Section 10: Cryptogenic, traumatic and iatrogenic neuropathies

Chapter 42. Drug-induced neuropathies

Abbreviations

Introduction

Pathophysiology

Tumor necrosis factor-α antagonists

Chemotherapeutic agents

Bortezomib

Antiretroviral drugs

Antibiotics

Statins

Amiodarone

Conclusion

References

Chapter 43. Late radiation injury to peripheral nerves

Introduction

Pathophysiology

Neurotoxicity according to the affected anatomical site

Treatment

Radiation-induced peripheral nerve tumors

Conclusion

Acknowledgments

References

Chapter 44. Neuromuscular complications of critical illness

Introduction

Historical perspective

Critical illness, sepsis, multiple organ failure, and systemic inflammatory response syndrome

Acquired weakness in the ICU

Diagnostic criteria for acquired weakness in the ICU

Diagnostic criteria for critical illness polyneuropathy

Other acquired neuropathic conditions in ICU patients

Critical illness myopathy

Diagnostic criteria for critical illness myopathy

Specific varieties of CIM

Clinical approach to critical illness weakness

Risk factors for developing acquired weakness in the ICU

Pathophysiology of critical illness polyneuropathy and critical illness myopathy

Respiratory dysfunction in acquired weakness in the ICU

Persistent weakness and long-term outcome of ICUAW

References

Chapter 45. The surgery of peripheral nerves (including tumors)

Introduction

The history of peripheral nerve surgery

Peripheral nerve degeneration and regeneration

Traumatic peripheral nerve injuries and their management

Peripheral nerve tumors

Functional peripheral nerve surgery

Future developments

References

Futher reading

Chapter 46. Peripheral neuropathy in the elderly

Introduction

General approach to the patient with symptomatic neuropathy

Acquired demyelinating neuropathies

Poems

Conclusions

Acknowledgments

References

Section 11: Familial neuropathies

Chapter 47. Dominant Charcot–Marie–Tooth syndrome and cognate disorders

Abbreviations

Genes

Introduction

Historical notes, eponyms, and acronyms

Charcot–marie–tooth neuropathy

Recurrent focal neuropathies

Management

Concluding remarks and future perspectives

Acknowledgments

References

Chapter 48. Recessively transmitted predominantly motor neuropathies

Introduction

CMT4: Recessive/demyelinating

CMT2: Recessive/axonal

Recessive CMTX

Recessive dHMN

Conclusion

Acknowledgment

References

Chapter 49. Early onset (childhood) monogenic neuropathies

Abbreviations

Introduction

“Neurological” and “genetic” classifications of hereditary neuropathies in childhood

Neuropathies secondary to a hereditary general disease

Primary neuropathies: hereditary motor sensory neuropathies, hereditary sensory-autonomous neuropathies, and hereditary motor neuropathies

Spinal muscular atrophy

Syndromic neuropathies; congenital neuropathies

References

Chapter 50. Hereditary sensory and autonomic neuropathies

Introduction

Historical remarks

Current classification of HSN/HSAN

Management and treatment

Conclusions

References

Chapter 51. Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders

Historical perspective

Ackowledgments

References

Chapter 52. Giant axonal neuropathy

Introduction

Clinical features

Electromyography

Muscle and nerve biopsy

Cerebral MRI

Neuropathology

Molecular aspects

Treatment

Concluding remarks

Acknowledgments

References

Chapter 53. Neurofibromatosis type 1 (NF1): diagnosis and management

Introduction

History of neurofibromatosis 1

Diagnostic criteria for neurofibromatosis 1

Epidemiology

Differential diagnosis

Clinical manifestations of neurofibromatosis 1

The eye

Gastrointestinal complications

The skin

Bone

Cardiovascular problems

Genetic counseling

Future directions

References

Chapter 54. Neurofibromatosis type 2 (NF2): diagnosis and management

Introduction

History

Epidemiology

Genetics

Molecular biology

Clinical features

Vestibular schwannomas

Intracranial meningiomas

Spinal tumors

Neuropathy

Ocular disease

Cutaneous disease

Determinants of disease phenotype

Differential diagnosis

Management

Screening for NF2

Survival rates

Conclusion

References

Index