Peripheral Neuropathies in Clinical Practice

Steven Herskovitz The Saul R. Korey Department of Neurology Albert Einstein College of Medicine of Yeshiva University Montefiore Medical Center Bronx, NY 10467 Stephen Scelsa Director, Neuromuscular Division and ALS Center The Hyman-Newman Institute for Neurology & Neurosurgery New York NY 10003 Herbert Schaumburg The Saul R. Korey Department of Neurology Albert Einstein College of Medicine Jack and Pearl Resnick Campus Forchheimer Building, Room 104 S Bronx, NY 10461 The authors are recognized neuromuscular experts, having published extensively on various clinical and basic science aspects of neuropathies, electrodiagnostic studies, neurotoxicology and ALS.

1. Basic Concepts and Glossary of Common Clinical Terms

Definition of the Peripheral Nervous System (PNS)
Relationships Fundamental to an Understanding of Disease of Peripheral Nerve Fibers
Neuron Cell Body and Axon
Axon, Schwann Cell and Myelin
Axon and End Organ
Wallerian Degeneration and Axon Regeneration
Glossary of Common Clinical Terms

2. Anatomic Classification of Peripheral Nervous System Disorders

Symmetric Generalized Neuropathies (Polyneuropathies)
Distal Axonal Degeneration
Segmental (Non-Uniform) Myelinopathy
Diffuse (Uniform) Myelinopathy
Neuronopathy (Ganglionopathy)
Focal (Mononeuropathy) and Multifocal (Multiple Mononeuropathy) Neuropathies
Ischemia
Infiltration
Physical Injuries

3. Evaluation and Management of the Patient with Peripheral Neuropathy

General Principles and the Algorithmic Approach
Chronic Idiopathic Axonal Polyneuropathy / Small Fiber Neuropathy
Treatment of Neuropathic Pain
Differential Diagnoses and Work-ups for the Varied Neuropathy Phenotypes (Tables)
Sensorimotor Polyneuropathies - Axonal
Sensorimotor Polyneuropathies - Demeyelinating or Mixed
Sensory, Small Fiber, Painful Polyneuropathies
Sensory, Large Fiber, Ataxic Polyneuropathies
Motor Neuropathies
Autonomic Neuropathies
Mononeuropathy Multiplex
Myeloneuropathies
Neuromyopathies
Polyneuropathy and Optic Neuropathy
Polyradiculopathies
Plexopathies/Radiculoplexopathies
Facial Neuropathy
Trigeminal Sensory Neuropathy
Unusual Neuropathy Patterns

4. Electrodiagnostic, Imaging, Nerve and Skin Biopsy Investigations in Peripheral Nerve Disease

Electromyography and Nerve Conduction Studies
Sensory Nerve Conduction Studies
Motor Nerve Conduction Studies
Late Responses
Blink Reflex Studies
Needle Electromyography
Studies of Autonomic Function
Quantitiative Sudomotor Axon Reflex Test
Thermoregulatory Sweat Test
Sympathetic Skin Response
Heart Rate Response to Deep Breathing
Valsalva Maneuver
Quantitative Sensory Testing
Developing Electrophysiologic and Imaging Techniques
Motor Unit Number Estimation
Electrical Impedence Myography
High-Resolution Sonography of Peripheral Nerve
Magnetic Resonance Neurography
Muscle MRI
Positron Emission Tomography
Nerve Biopsy
Skin Biopsy

5. Case Presentations Illustrating the Diagnostic Method

Case 1: Painful small fiber neuropathy and dysautonomia
Case 2: Insidious onset of distal weakness in an adult with deformed feet
Case 3: Lower limb paresthesias in a middle-aged adult with diabetes.
Case 4: A middle-aged woman with muscle twitching and episodic numbness
Case 5: Six days of cranial neuropathies and hyporeflexia
Case 6: A two-month onset of sensory neuropathy in a woman with ovarian carcinoma
Case 7: A 47-year-old man with 10 years of progressive bilateral hand weakness
Case 8: Chronic sensory loss and unsteady gait in a 59-year-old woman
Case 9: An elderly man with acral paresthesias and gait unsteadiness
Case 10: Foot drop in an 81-year-old woman
Case 11: A middle-aged man with multifocal pain, sensory loss and weakness
Case 12: Five-day onset of diffuse weakness

6. Acute Immune-mediated Neuropathies

Demyelinating Immune-mediated Neuropathies
Acute Inflammatory Demyelinating Polyradiculoneuropathy (AIDP) and Fisher Syndrome (FS)

Axonal Immune-mediated Neuropathies

Acute Motor Axonal Neuropathy (AMAN) and Acute Motor and Sensory

Axonal Neuropathy (AMSAN)

Neuronopathies
Sensory (Idiopathic, Sjogren Syndrome, Paraneoplastic) and Motor (Paraneoplastic) Neuronopathies and Autoimmune Autonomic Ganglionopathy

7. Chronic Immune-mediated Neuropathies

Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
CIDP Variants:
Multifocal Motor Neuropathy with Conduction Block (MMN)
Lewis-Sumner Syndrome (LSS)/Multifocal Acquired Demyelinating Sensory and Motor Neuropathy (MADSAM)
Distal Acquired Demyelinating Symmetric Neuropathy (DADS)
CIDP with CNS Features
Chronic Immune Sensory Polyradiculopathy (CISP)
Chronic Sensory Demyelinating Polyneuropathy

8. Neuropathies Associated with Monoclonal Gammopathies and Cancer

Multiple Myeloma
Osteosclerotic Myeloma
Primary Systemic Amyloidosis (AL Amyloidosis)
Waldenstrom Macroglobulinemia
Monoclonal Gammopathy of Undetermined Significance

9. Infectious and Granulomatous Neuropathies

Herpes Zoster/Herpes Simplex
Leprosy
Sarcoidosis
Lyme Disease
HIV
Hepatitis C/Cryoglobulinemia
Diphtheria

10. Diabetic and Other Endocrine Neuropathies

Diabetic Neuropathies

Distal Symmetric Sensorimotor/Autonomic Polyneuropathy
Proximal Multifocal Neuropathies
Lumbosacral Radiculoplexus Neuropathy
Thoracolumbar "Truncal" Radiculoneuropathy
Focal Limb Neuropathies (Entrapment Sites)
Isolated Cranial Neuropathies
Acute Painful Neuropathy ("Diabetic Neuropathic Cachexia")
Diabetic Motor-predominant Neuropathies
Treatment-induced Neuropathy ("Insulin Neuritis")
Hyperglycemic Neuropathy
Acromegalic Neuropathy
Hypothyroid Neuropathy

11. Neuropathies Associated with Vitamin Deficiencies and Malabsorption

Vitamin B12 (Cobalamin) Deficiency
Vitamin B1 (Thiamine) Deficiency
Celiac Disease
Vitamin E (?-tocopherol) Deficiency
Copper Deficiency
Other: Cuban Epidemic Optic and Peripheral Neuropathy; Deficiencies: Riboflavin (B2), Pyridoxine (B6), Folate, Zinc; Bariatric Surgery

12. Vascular/Ischemic Neuropathies

Vasculitic Neuropathies
Neuropathies Associated with Peripheral Arterial Occlusive Disease
Neuropathies Associated with Compartment Syndromes


13. Neuropathies Associated with Organ Failure

Pulmonary Failure
Hepatic Failure
Renal Failure
Uremic Polyneuropathy
Mononeuropathies
Ischemic Monomelic Neuropathy
Organ Transplantation
Critical Illness Polyneuropathy
Differential Diagnosis

14. The Hereditary Neuropathies

Hereditary Motor and Sensory Neuropathies
Charcot-Marie Tooth Disease, Type 1
Hereditary Neuropathy with Liability to Pressure Palsy
Charcot-Marie Tooth Disease, Type 2
Dejerine-Sottas Disease/Congenital Hypomyelinating Neuropathy
Charcot-Marie Tooth Disease, Type 4
Charcot-Marie Tooth, Type X
Charcot-Marie-Tooth Disease-Dominant Intermediate
Hereditary Sensory and Autonomic Neuropathies
Distal hereditary Motor Neuropathy/Neuronopathy
Hereditary Ataxia with Neuropathy
Autosomal Dominant
Autosomal Recessive
X-linked
Hereditary Spastic Paraplegia with Neuropathy
Hereditary Brachial Plexus Neuropathy/Hereditary Neuralgic Amyotrophy
Hereditary Peripheral Nerve Channelopathies
Sodium Channelopathies
Potassium Channelopathies

15. Hereditary Metabolic/Multisystem Disorders with Neuropathy

Familial Amyloid Polyneuropathies
Disorders of Lipid Metabolism
Lysosomal Disorders
Fabry Disease
Leukodystrophies
Metachromatic Leukodystrophy
Krabbe Disease
Peroxisomal Disorders
Refsum Disease
Adrenomyeloneuropathy
Lipoprotein Deficiencies
Tangier Disease
Abetalipoproteinemia
Familial Hypobetalipoproteinemia
Cerebrotendinous Xanthomatosis
Disorders of Heme Metabolism - Porphyria
Disorders of Defective DNA Repair
Mitochondrial Disorders
Neuroacanthocytosis Syndromes
Chorea-Acanthocytosis
McLeod Syndrome
Neurofibromatous Neuropathy
Glycogen Storage Diseases
Adult Polyglucosan Body Disease

16. The Toxic Neuropathies: Principles of General and Peripheral Neurotoxicology; Pharmaceutical Agents

Principles of General Neurotoxicology

Principles of Peripheral Neurotoxicology


Peripheral Neurotoxicity Associated with Pharmaceutical Agents

Amiodarone
Bortezomib
Colchicine
Dapsone
Disulfiram
Ethambutol
Ethanol
Isoniazid
Metronidazole
Misonidazole
Nitrous Oxide
Nucleoside Analogues
Phenytoin
Platinum
Pyridoxine
Suramin
Tacrolimus
Taxanes
Thalidomide
Vinca Alkaloids

17. The Toxic Neuropathies: Industrial, Occupational and Environmental Agents

Peripheral Neurotoxicity Associated with Industrial, Occupational and Environmental Agents

Arsenic
Ethylene Oxide
Hexacarbons (n-hexane)
Lead
Methyl Bromide
Organophosphates
Thallium

18. Focal neuropathies: Nerve injuries, Entrapments and Other Mononeuropathies

Nerve Injuries
Anatomy and Pathophysiology of Nerve Injuries
Clinical Classification or Nerve Injuries
Electrodiagnostic Features of Nerve Injuries
Nerve Regeneration and Repair
Focal Neuropathies: The Upper Extremity
Median Nerve
Ulnar Nerve
Radial Nerve
Other Upper Extremity Mononeuropathies
Focal Neuropathies: The Lower Extremity
Sciatic nerve
Peroneal Nerve
Tibial Nerve
Femoral Nerve
Lateral Femoral Cutaneous Nerve
Other Lower Extremity Mononeuropathies
Focal Neuropathies: Cranial Neuropathies
Idiopathic Facial Nerve Paralysis (Bell's palsy)

19. Plexopathies

Brachial Plexopathy
Anatomy
Etiology

Trauma
Thoracic Outlet Syndrome
Neoplastic Brachial Plexopathy
Radiation-induced Brachial Plexopathy
Immune Brachial Plexus Neuropathy (Neuralgic Amyotrophy)
Lumbosacral Plexopathy
Anatomy

Etiology
Trauma and Ischemia
Retroperitoneal Hemorrhage
Neoplastic Lumbosacral Plexopathy
Radiation-induced Lumbosacral Plexopathy
Non-diabetic Lumbosacral Radiculoplexus Neuropathy

20. Disorders of Peripheral Nerve Hyperexcitability

Generalized

Neuromyotonia
Cramps
Fasciculations
Tetany

Localized

Facial Myokymia
Localized or Focal Myokymia
Hemifacial Spasm
Hemimasticatory Spasm
Hypothenar Dimpling


Index