Rinsho Shinkeigaku (Clinical Neurology)

The 51st Annual Meeting of the Japanese Society of Neurology

iNPH (Idiopathic normal pressure hydrocephalus) and AVIM (asymptomatic ventriculomegaly with features of iNPH on MRI)

Takeo Kato, M.D.1), Chifumi Iseki, M.D.1), Yoshimi Takahashi, M.D.1), Manabu Wada, M.D.1), Toru Kawanami, M.D.1), Hidenori Sato, M.D.2) and Mitsuru Emi, M.D.2)

1)Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan
2)CNV Laboratory, DNA Chip Research Institute, Yokohama, Japan

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)

(CLINICA NEUROL, 50: 963|965, 2010)
key words: normal pressure hydrocephalus (NPH), magnetic resonance imaging (MRI), cohort study, copy number variation (CNV), SFMBT1

(Received: 22-May-10)