Moyamoya Disease: Current Knowledge and Future Perspectives

✍ Scribed by Satoshi Kuroda (editor)

• Publisher: Springer
• Year: 2021
• Tongue: English
• Leaves: 332
• Category: Library

✦ Synopsis

This book brings together the latest knowledge on moyamoya disease, covering diagnostic criteria, status as a disease entity, genetic aspects, pathophysiology, novel neuroradiological findings, and surgical therapy. Information is also provided on recent basic and clinical research with the aim of identifying future perspectives on the disease.

Since moyamoya disease was first reported in an English language article more than 50 years ago, our understanding of it has advanced considerably. Genetic and radiological analysis has delivered novel insights, and the latest multicenter studies are changing routine diagnosis and surgical therapy. The gene encoding the ring finger protein 213 (RNF213) has been identified as a susceptibility gene for moyamoya disease. Indications and procedures for surgical revascularization have been revised, with resultant improvements in outcomes, and studies performed over the past decade have provided new knowledge on the neuroradiological findings before and after surgery.

In describing these advances, this book will be an invaluable asset for all general physicians, pediatricians, neurologists, radiologists, and neurosurgeons who care for patients with moyamoya disease across the world.

✦ Table of Contents

Foreword
Preface
Contents
Part I: Concept of Moyamoya Disease
1: History of Disease Entity and Diagnosis Criteria
1.1 Introduction
1.2 History of Moyamoya Disease
1.3 Diagnosis Criteria of Moyamoya Disease
References
2: Moyamoya Syndrome
2.1 Terminology
2.2 Epidemiology
2.2.1 Japan
2.2.2 Taiwan
2.2.3 China
2.2.4 Korea
2.2.5 United States of America
2.2.6 Germany
2.3 Associated Conditions
2.3.1 Neurofibromatosis Type 1 (von Recklinghausen’s Disease)
2.3.2 Down Syndrome (Trisomy 21)
2.3.3 Thyroid Disease
2.3.4 Sickle Cell Disease
2.3.5 Others
2.3.6 Acquired Conditions
2.4 Surgical Revascularization and Outcome
2.5 Future Perspectives in Diagnosis and Patient Care
References
3: Unilateral Moyamoya Disease: A Distinct Entity?
3.1 Introduction
3.2 Definition of Unilateral Moyamoya Disease
3.3 Clinical and Radiological Features
3.4 Biomarkers
3.5 Differentiation of Moyamoya Disease from Non-moyamoya Arteriopathy, Including FCA
3.6 Contralateral Progression
3.7 PCA Involvement
3.8 Perspectives
References
Part II: Genetic Aspect of Moyamoya Disease
4: RNF213 as a Susceptibility Gene for Moyamoya Disease has Multifunctional Roles in Biological Processes
4.1 Introduction: RNF213 and Moyamoya Disease
4.2 Functional Properties of RNF213 and its Variants
4.2.1 Upregulation of RNF213 by Inflammatory Substances
4.2.2 Inhibitory Effects of RNF213 Variants on EC Functions and Cell Division
4.2.2.1 EC Dysfunction
4.2.2.2 Abnormal Mitosis
4.2.3 Stabilizing Effect of RNF213 on Cytoplasmic Lipid Droplets
4.2.4 NFκB Activation and Apoptosis by RNF213 Variants
4.2.5 Roles Played by RNF213 Domains and Variants
4.3 Susceptibilities Related to RNF213
4.3.1 Hypoxia and Hypoperfusion
4.3.2 Endoplasmic Reticulum Stress in Diabetes
4.3.3 Lipotoxicity
4.4 Relationship with Infection and Immune Function in MMD
4.5 Conclusions and Perspectives
References
5: RNF213 and Clinical Feature
5.1 Introduction
5.2 RNF213 p.R4810K Genotype–Phenotype Correlation in Moyamoya Disease in East Asia
5.2.1 Japan and Korea
5.2.2 China
5.3 The Other Rare Variants of RNF213
5.4 RNF213 Variant in Caucasian
5.5 RNF213 and Diseases Other than Moyamoya Disease
5.6 Conclusion
References
6: RNF213 Variant as a Biomarker of Cerebrovascular Disease
6.1 Ring Finger Protein 213 (RNF213)
6.2 RNF213 and Intracranial Artery Stenosis
6.3 Variants of RNF213 Other than p.Arg4810Lys Associated with ICAS
6.4 Features of ICAS with the RNF213 p.Arg4810Lys Variant
6.5 Associations of General Ischemic Stroke and the RNF213 p.Arg4810Lys Variant
6.6 Associations of Systemic Vascular Diseases with the RNF213 p.Arg4810Lys Variant
6.7 Functional Analysis of the RNF213 Gene
6.8 Future Perspectives and Issues
References
Part III: Pathophysiology of Moyamoya Disease
7: TIA and Headache in Pediatric Moyamoya Disease
7.1 Introduction
7.2 Transient Ischemic Attack
7.2.1 Clinical Features and Mechanism
7.2.2 Natural Course of TIA
7.3 Headache Attack
References
8: Ischemic Stroke
8.1 Introduction
8.2 Symptomatology
8.3 Radiological Features: Locations and Collateral Flows
8.4 Cerebral Hemodynamic Compromise
8.4.1 Compensatory Mechanisms against Cerebral Perfusion Pressure Decrease
8.4.2 Evaluation of Cerebral Perfusion Pressure Decrease
8.5 Ivy Sign
8.6 Surgical Indications
8.7 Antiplatelet Therapy for Ischemic MMD
References
9: Hemorrhagic Stroke and the Japan Adult Moyamoya Trial
9.1 Introduction
9.2 The JAM Trial
9.3 Primary Results of the JAM Trial
9.4 Prespecified Subgroup Analysis of the JAM Trial
9.5 Mechanism of Bleeding in Moyamoya Disease: Periventricular Anastomosis
9.6 Why Does the Posterior Hemorrhage Group Have a Poor Natural Prognosis?
9.7 The Mechanism of Bypass Surgery in Preventing Hemorrhage
9.8 Additional Sub-analyses of the JAM Trial
9.9 Summary
References
10: Cognitive Function in Pediatric Moyamoya Disease
10.1 Introduction
10.2 Clinical Features
10.3 Effects of Surgical Revascularization on Intellectual Outcome
10.4 Pathophysiology
10.5 Conclusion
References
11: Cognitive Dysfunction in Adults
References
12: Asymptomatic Moyamoya Disease
12.1 Introduction
12.2 Definition and Epidemiology
12.3 Radiological Findings
12.4 Natural Course
12.5 Asymptomatic Moyamoya Registry (AMORE) Study
12.6 Conclusion
References
Part IV: Update on Neuroradiology in Moyamoya Disease
13: Periventricular Anastomosis
13.1 Anatomy
13.2 Relationship between Periventricular Anastomosis and Bleeding
13.3 Radiological Findings
13.3.1 Lenticulostriate Anastomosis
13.3.2 Thalamic Anastomosis
13.3.3 Choroidal Anastomosis
References
14: Arterial Shrinkage
14.1 Introduction
14.2 Arterial Shrinkage in Carotid Fork
14.3 Arterial Shrinkage in Posterior Cerebral Artery
14.4 Arterial Shrinkage in Moyamoya Syndrome
14.5 Clinical Significance of Arterial Shrinkage in Moyamoya Disease
14.5.1 Endovascular Treatment
14.5.2 Differential Diagnosis of Moyamoya Disease
References
15: Disease Progression
15.1 Introduction
15.2 Suzuki’s Angiographic Staging as an Intrinsic Temporal Nature of Physiological Compensatory Reorganization in MMD
15.3 Disease Progression in Adult MMD
15.4 Significance of Progressive Stenosis in Posterior Cerebral Artery (PCA)
References
16: Postoperative Hyperperfusion
16.1 Introduction
16.2 Incidence of HP
16.3 Clinical Features
16.4 Diagnosis
16.5 Intraoperative Evaluations
16.5.1 Indocyanine Green Videoangiography
16.5.2 Flow Meters
16.5.3 Caliber Mismatch of Donor and Recipient Arteries
16.5.4 Hemodynamic Sources of Recipient Arteries
16.6 Postoperative Imaging
16.6.1 SPECT/PET
16.6.2 MRI
16.7 3 MRA
16.8 Pathogenesis
16.9 Perioperative Management of HP
References
17: Postoperative FLAIR Imaging Changes
17.1 Introduction
17.2 Radiological Features of the Hyperintense Signal
17.3 The Role of Cerebral Hemodynamics
17.3.1 Preoperative Cerebral Hemodynamics
17.3.2 Postoperative Hyperperfusion
17.4 Future Perspective
References
Part V: Real World of Surgical Revascularization for Moyamoya Disease
18: Overview of Surgical Revascularization and Long-Term Outcome in Japan
18.1 Introduction
18.2 Surgical Procedures
18.2.1 Indirect Bypass Surgery
18.2.2 Direct Bypass Surgery
18.2.3 Combined Bypass Surgery
18.3 Long-Term Outcome in Japan
References
19: Perioperative Complications
19.1 Background
19.2 Frequency and Pathophysiology of Perioperative Complications
19.2.1 Classification
19.3 Perioperative Stroke
19.3.1 Ischemic Complications
19.4 Hemorrhagic Complications
19.4.1 Postoperative Hyperperfusion
19.5 Procedure-Related Complications
19.6 Perioperative Management to Prevent Complications
19.7 Discussion
References
20: Long-Term Outcome in Europe
20.1 Moyamoya Disease in Europe: Overview
20.2 Surgical Treatment of Moyamoya Patients in our Institute
20.3 Long-Term Outcome of Moyamoya Patients in Europe
20.4 Conclusion
References
21: Long-Term Outcomes in the USA
21.1 Introduction
21.2 Epidemiology of Moyamoya Disease in the USA
21.3 Presentation
21.4 Natural History in the USA
21.5 Treatment Trends
21.6 Outcomes
21.7 Conclusions
References
22: Long-Term Outcome in China
22.1 Introduction
22.2 Epidemiology
22.2.1 General Epidemiology
22.2.2 Genetic Epidemiology
22.3 Treating Modality
22.3.1 Revascularization
22.3.2 Varied Kinds of Revascularization
22.3.3 Modified Revascularization
22.4 Ischemic Moyamoya Disease in China and Its Long-Term Outcomes
22.4.1 Cognitive Status of MMD in China
22.4.2 Long-Term Outcomes of Ischemic MMD in China
22.4.2.1 Overall Outcomes
22.4.2.2 Neurocognitive and Neuroimaging Outcomes
22.5 Long-Term Outcomes in Hemorrhagic MMD
22.5.1 Natural History of Hemorrhagic MMD in China
22.5.2 Long-Term Outcome of Surgically Treated Hemorrhagic MMD in China
22.5.2.1 Direct Revascularization
22.5.2.2 Indirect Revascularization
22.5.2.3 Combined Revascularization
22.6 Long-Term Outcomes in Pediatric MMD
22.6.1 Treatments
22.6.2 Long-Term Clinical Outcome
22.7 Conclusion
References
23: Long-Term Outcome of Revascularization Surgery for Moyamoya Disease in Korea
23.1 Introduction
23.2 Procedure of RVS
23.3 Indication of RVS
23.4 Selection of the RVS Procedure
23.5 Long-term Outcome of RVS for Patients with MMD in Korea (Table 23.1)
23.6 Conclusion
References
24: Indirect Bypass Surgery for Moyamoya Disease
24.1 Introduction
24.2 History and Mechanism of Indirect Bypass Surgery
24.3 The Hemodynamic Characteristics of Moyamoya Disease
24.4 Pre-Operative Neuroimaging for Precise Application of Indirect-Bypass Surgery
24.5 Surgical Procedure of Indirect Bypass Surgery
24.6 Advantages and Limitations of Indirect Bypass Surgery
24.7 Conclusions
References
25: Direct/Combined Bypass Surgery
25.1 Direct/Combined Bypass Versus Indirect Bypass
25.2 Surgical Procedures of Direct/Combined Bypass
25.2.1 Superficial Temporal Artery (STA)-Middle Cerebral Artery (MCA) Anastomosis
25.2.2 STA-MCA Anastomosis with EMS/EDMS
25.2.3 STA-MCA Anastomosis with EDAMS
25.2.4 STA-MCA Anastomosis with EDMAPS
25.2.5 STA-ACA Anastomosis with EPS
25.2.6 OA-PCA Anastomosis with EPS
25.3 Surgical Complications of Direct/Combined Bypass
25.3.1 Postoperative Stroke
25.3.2 Postoperative Hyperperfusion
25.3.3 Operative Wound-Related Complications
25.4 Special Considerations: Direct/Combined Bypass for Hemorrhagic Moyamoya Disease
25.5 Future Perspectives
References
26: Special Considerations: Infants
26.1 Introduction
26.2 Epidemiology
26.3 Clinical Presentations
26.4 Radiological Findings
26.5 Surgical Treatments
26.6 Long-Term Outcome
26.7 Conclusion
References
27: Special Considerations: Elderly
27.1 Introduction
27.2 Current Diagnostic Criteria of MMD
27.3 Significance of the Supportive Diagnostic Tools
27.4 Surgical Indication and Management Procedure for Elderly MMD Patients
27.5 Potential Complications of the Revascularization Surgery for Elderly MMD Patients
References