A search for causal gene of familial normal pressure hydrocephalus.

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591248
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Yamagata University
• Principal Investigator: KATO TAKEO 山形大学, 医学(系)研究科(研究院), 教授 (90194828)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 正常圧水頭症 / 家族性 / 遺伝子

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.

Free Research Field

神経内科