A search for causal gene of familial normal pressure hydrocephalus.
| Project/Area Number |
24591248
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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 | Yamagata University |
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Principal Investigator |
KATO TAKEO 山形大学, 医学(系)研究科(研究院), 教授 (90194828)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Keywords | 正常圧水頭症 / 家族性 / 遺伝子 / 遺伝性 / ゲノム / エクソーム / バリアント / 病因遺伝子 |
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| Outline of Final Research Achievements |
We recruited 4 families with normal pressure hydrocephalus (NPH) from various countries, including Japan, Taiwan and Greece. Peripheral blood DNA was obtained from a total of 34 patients with familial NPH and 128 healthy individuals, and was subjected to exome analysis. Among a total of 493,522 variants observed, we chose two candidate mutations in the genes A and B: these two mutations induced amino acid substitution, and were found in all the affected members but did not in the non-affected members of Yamagata family. The gene A mutation was also found in the affected member of another family with fNPH. It is therefore concluded that the mutation of the gene A was the cause of the two families with NPH.
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Report
(4 results)
Research Products
(19 results)
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[Journal Article] Variants associated with Gaucher disease in multiple system atrophy.2015
Author(s)
Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
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Journal Title
Ann Clin Transl Neurol.
Volume: 2
Issue: 4
Pages: 417-426
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Association of heart-type fatty acid-binding protein with cardiovascular risk factors and all-cause mortality in the general population: the Takahata study.2014
Author(s)
Otaki Y, Watanabe T, Takahashi H, Hirayama A, Narumi T, Kadowaki S, Honda Y, Arimoto T, Shishido T, Miyamoto T, Konta T, Shibata Y, Fukao A, Daimon M, Ueno Y, Kato T, Kayama T, Kubota I.
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Journal Title
PLoS One
Volume: 9
Issue: 5
Pages: e94834-e94834
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Familial normal pressure hydrocephalus: a novel subgroup2014
Author(s)
T Kato, Y Takahashi, S Ono, N Samejima, N Kuwana, M Miyajima, H Arai, M Kaijima, K Aoki, S Yamada
Organizer
Hydrocephalus 2014
Place of Presentation
Ｕｎｉｖｅｒｓｉｔｙ ｏｆ Bristol, UK
Year and Date
2014-09-06 – 2014-09-08
Related Report
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