Gene analysis and clinicopathological features of amyotrophic lateral sclerosis in the area where there are many patients
| Project/Area Number |
25461274
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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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| Research Field |
Neurology
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| Research Institution | Shinshu University |
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Principal Investigator |
HINENO Akiyo 信州大学, 医学部附属病院, 講師(特定雇用) (20596366)
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| Co-Investigator(Kenkyū-buntansha) |
小柳 清光 信州大学, 医学部, 特任教授 (00134958)
中村 昭則 信州大学, 医学部, 特任教授 (10303471)
池田 修一 信州大学, 学術研究院医学系, 教授 (60135134)
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| Co-Investigator(Renkei-kenkyūsha) |
YOSHIDA Kunihiro 信州大学, 医学部附属病院, 特任教授 (90242693)
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| Project Period (FY) |
2013-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 筋萎縮性側索硬化症 / 神経病理 / 遺伝子 / 神経難病 / 分子遺伝学 |
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| Outline of Final Research Achievements |
In this area, some families have amyotrophic lateral sclerosis with gene mutation such as SOD1 L106V, C111Y, and H46R. We also identified a novel duplication in exon 1 of SOD1 gene. Lower urinary tract dysfunction, especially storage symptoms, developed about one year after the onset of weakness, and the dysfunction occurred simultaneously with artificial respirator use in the patients with SOD1 L106 mutation. The serum levels of HSP70 and HSP90 were signicantly higher in ALS patients than in controls. We confirmed that the incidence of ALS, especially older onset patient in this area has been recently increasing.
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Report
(5 results)
Research Products
(34 results)
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[Journal Article] Axonal TDP-43 aggregates in sporadic amyotrophic lateral sclerosis2016
Author(s)
Onozato T, Nakahara A, Suzuki-Kouyama E, Hineno A, Yasude T, Nakamura T, Yahikozawa H, Watanabe M, Kayanuma K, Makishita H, Ohara S, Hashimoto T, Higuchi K, Sakai T, Asano K, Hashimoto T, Kanno H, Nakayama J, Oyanagi K
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Journal Title
Neuropathology and Applied Neurobioly
Volume: 印刷中
Issue: 6
Pages: 561-572
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Shinshu Brain Resource Net2016
Author(s)
Oyanagi K, Yamada M, Hineno A, Yahikozawa H, Ushiyama M, Miki J, Kanno H, Nakayama J, Makishita H, Inoue K, Ohara S, Hayashida K, Kayanuma K, Yamamoto K, Yasude T, Hashimoto T, Yoshida K, Ikeda SI
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Journal Title
Neuropathology
Volume: 36
Issue: 6
Pages: 600-601
DOI
Related Report
Peer Reviewed / Open Access
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