| Project/Area Number |
18K07524
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 52020:Neurology-related
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| Research Institution | Osaka University |
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Principal Investigator |
KUBOTA TOMOYA 大阪大学, 医学系研究科, 准教授 (20573231)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
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| Keywords | 運動失調 / 遺伝子解析 / チャネル病 / 電位依存性イオンチャネル / 電位感受性機構 / 電位依存性カルシウムチャネル / 電位依存性カリウムチャネル / 反復発作性運動失調症 / EA2 / EA1 / Cav2.1 |
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| Outline of Final Research Achievements |
Episodic ataxia is a hereditary rare disease representing intermittent vertigo and/or dizziness. The pathomechanism and the therapeutic drug have not been explored yet. Especially, the number of case reports of EA in Japan has been limited. In this study, we identified a few EA cases which has been undiagnosed. In addition, a few cases of familial hemiplegic migraine, which shares some symptoms with EA, have been identified. We succeeded to elucidate some specific features of EA in Japan. Moreover, we explored a patch clamp methods to record gating pore current, which would be useful to explore the pathomechanisms of ion channel disease including EA.
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| Academic Significance and Societal Importance of the Research Achievements |
反復発作性運動失調症（episodic ataxia : EA）は、めまいやふらつきなどの症状を発作的に起こす病気のため、診断されずにいる患者さんが多く潜在している。特に、日本でのEA症例の少ない。今回、数例ではあるが、研究を通じて未診断のEA患者さんが診断にいたったことは、医学研究における学術的意義として重要である。病気のしくみの解明のための技術的改良がなされたことも、意義深い。また、症例の積み重ねで得られた情報により、日本でのEA症例の特徴が明らかになることで、今後、診断率の向上が期待される
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