| 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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| 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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