第51回日本神経学会総会
＜シンポジウム15―2＞特発性正常圧水頭症（iNPH）：病態研究最近の進歩
疫学研究：iNPH とAVIM（エイビム）
加藤 丈夫1）, 伊関 千書1）, 高橋 賛美2）, 和田 学1）, 川並 透1）, 佐藤 秀則2）, 江見 充2）
1）山形大学医学部第三内科〔〒990―9585 山形市飯田西2―2―2〕
2）DNAチップ研究所
We investigated if there are individuals at a preclinical stage of idiopathic normal pressure hydrocephalus (iNPH) in a general population. All the residents aged 61 years and 70-72 years in the two communities of Japan (n=1142) were requested to take brain MRI examination. 790 residents (69.2%) participated in this study. Among them, 51 individuals (6.46%) had the enlarged ventricles (Evans index of >0.3), 12 (1.52%) of which showed the iNPH features on MRI. Of the 12 individuals, 8 were asymptomatic, while 4 had gait disturbance and/or dementia (possible iNPH). During a follow-up period of 4-8 years, two of the 8 asymptomatic subjects developed dementia and/or gait disturbance. The prevalence of possible iNPH was 0.51% (4/790) among Japanese elderly (>61 years of age). Asymptomatic ventriculomegaly with the iNPH features on MRI (AVIM) may represent a preclinical stage of iNPH. To identify a possible genetic change of AVIM and possible iNPH, we performed a genome-wide screening for copy number variations (CNV), and found that a segmental copy number loss of the SFMBT1 gene may be a genetic risk for the disease.
Full Text of this Article in Japanese PDF (274K)
(臨床神経, 50：963−965, 2010)
key words：正常圧水頭症，MRI，コホート研究，コピー数多型，SFMBT1
（受付日：2010年5月22日）
