Metal Related Neurodegenerative Disease

Series Page

Contributors

Preface

Abstract

Editorial: Metal-Related Neurological Disorders: Several New Genes and Better Understanding

Reference

Chapter One. The Relevance of Metals in the Pathophysiology of Neurodegeneration, Pathological Considerations

Abstract

1 Introduction

2 The Role of Specific Metals in Neurodegeneration

3 Conclusions and Future Perspectives

References

Chapter Two. Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN): Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes

Abstract

1 Introduction

2 Pantothenate Kinase-Associated Neurodegeneration

3 PLA2G6-Associated Neurodegeneration

4 Conclusion

Acknowledgments

References

Chapter Three. Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Abstract

1 Introduction

2 Clinical Findings

3 Neuroimaging

4 Neuropathology

5 Genetics

6 Conclusion

Acknowledgments

References

Chapter Four. BPAN: The Only X-Linked Dominant NBIA Disorder

Abstract

1 Introduction

2 Clinical Features

3 Brain Imaging

4 Histopathology

5 Diagnosis

6 Genetics

7 Biology

References

Chapter Five. Neuroferritinopathy

Abstract

1 Introduction

2 Biochemistry

3 Pathology

4 Clinical Phenotype

5 Radiological Imaging—General Principles

6 Other Clinical Investigations

7 Treatment

8 Future Directions

References

Chapter Six. Aceruloplasminemia: An Update

Abstract

1 Introduction

2 Ceruloplasmin

3 Clinical Features

4 Genetic and Molecular Features

5 Murine Models of Aceruloplasminemia

6 Pathogenesis

7 Iron Homeostasis

8 Treatment of Aceruloplasminemia

9 Conclusions

Acknowledgments

References

Chapter Seven. Therapeutic Advances in Neurodegeneration with Brain Iron Accumulation

Abstract

1 Introduction

2 Pharmacotherapy

3 Botulinum-Toxin Injections

4 Surgical Treatment Options in NBIA

5 Innovative Therapeutic Strategies

6 Conclusions

References

Chapter Eight. The Neuropathology of Neurodegeneration with Brain Iron Accumulation

Abstract

1 Introduction

2 Pantothenate Kinase-Associated Neurodegeneration (PKAN)

3 Phospholipase-Associated Neurodegeneration (PLAN)

4 Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

5 Kufor Rakeb Syndrome (KRS)

6 Beta Propeller Protein-Associated Neurodegeneration (BPAN)

7 Neuroferritinopathy (NFT)

8 Aceruloplasminemia (ACP)

9 Conclusions

References

Chapter Nine. Imaging of Iron

Abstract

1 Introduction

2 Iron Metabolism and Its Cellular Distribution

3 Iron Effect on MR

4 Potential Confounding Factors in Iron Imaging

5 MRI Techniques Sensitive for Iron Detection

6 Quantitative Iron Measurement Using MRI

7 Imaging of Iron in Physiological and Pathological Conditions

8 Conclusions

Acknowledgments

References

Chapter Ten. The Role of Iron Imaging in Huntington’s Disease

Abstract

1 Huntington’s Disease

2 The Pathological Cascade in HD

3 Ex Vivo Findings of Iron in HD

4 In Vivo Assessment of Iron Accumulation in HD Using MRI

5 Conclusion

6 Future Perspectives

References

Chapter Eleven. Lysosomal Storage Disorders and Iron

Abstract

1 Overview of the Lysosomal Compartment and Its Main Functions

2 Iron Homeostasis

3 Lysosomal Storage Disorders

4 Genetics of LSDs

5 Iron Disorders of Genetic Origin and the Lysosome

6 LSDs and Common Neurodegenerative Diseases: Genetics Bridging the Gap

7 Conclusions and Future Perspectives

References

Chapter Twelve. Manganese and the Brain

Abstract

1 Manganese: An Essential Trace Metal and Neurotoxin

2 Manganese Transport and Homeostasis

3 Mechanisms of Manganese Toxicity

4 Neurodegenerative Disorders Associated with Mn Toxicity

5 Perspective

References

Chapter Thirteen. Update on Wilson Disease

Abstract

1 Introduction

2 Copper Homeostasis

3 Genetics of WD

4 Clinical Manifestations

5 Diagnosis

6 Treatment

7 Tracking WD

References

Chapter Fourteen. An Update on Primary Familial Brain Calcification

Abstract

1 Introduction

2 Primary Familial Brain Calcification

3 Inheritance Patterns and Genes Linked to PFBC

4 Penetrance and BCs

5 Pending Candidate Loci and Other Risk Factors

6 Modeling BCs

7 New Therapies Based on New Genes

References

Index

Contents of Recent Volumes