title: [iNPH (Idiopathic normal pressure hydrocephalus) and AVIM (asymptomatic ventriculomegaly with features of iNPH on MRI)].
abstract: 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.
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
authors.forename: Chifumi
authors.initials: C
authors.lastname: Iseki
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Manabu
authors.initials: M
authors.lastname: Wada
authors.forename: Toru
authors.initials: T
authors.lastname: Kawanami
authors.forename: Hidenori
authors.initials: H
authors.lastname: Sato
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Emi
mesh_terms: D000368:Aged; D002552:Cerebral Ventricles / Q000473:pathology*; D015331:Cohort Studies; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D006801:Humans; D006850:Hydrocephalus, Normal Pressure / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012097:Repressor Proteins / Q000235:genetics; D012307:Risk Factors
chemical_list: D012097:Repressor Proteins; C523369:SFMBT1 protein, human