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This issue reviews the role of metals in neurodegenerative diseases; including Parkinson’s and Huntington’s disease; restless leg syndrome and NBIA disorders; and Wilson’s di… Read more
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This issue reviews the role of metals in neurodegenerative diseases; including Parkinson’s and Huntington’s disease; restless leg syndrome and NBIA disorders; and Wilson’s disease and manganese and calcium accumulation disorders. An update on advances in neuroimaging and pathology of metal related disease is also presented.
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