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山口 浩司
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| Language | English |
| Category | Chapter contribution |
| Title | RNF213 and Clinical Feature |
| Book title | Moyamoya disease: Current Knowledge and Future Perspectives |
| ISBN | 978-9813364035 |
| Editor | Satoshi Kuroda |
| Edition, Volume, Page | pp.61-72 |
| Publisher | Springer |
| Publication place (City and country) | Singapore |
| Author and coauthor | 野村 俊介, 赤川 浩之, 山口 浩司, 川島 明次, 川俣 貴一 |
| Publication date | 2021/02/27 |
| Summary | 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 |