Familial idiopathic normal pressure hydrocephalus

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Huovinen , J , Kastinen , S , Komulainen , S , Oinas , M , Avellan , C , Frantzen , J , Rinne , J , Ronkainen , A , Kauppinen , M , Lonnrot , K , Perola , M , Pyykko , O T , Koivisto , A M , Remes , A M , Soininen , H , Hiltunen , M , Helisalmi , S , Kurki , M , Jaaskelainen , J E & Leinonen , V 2016 , ' Familial idiopathic normal pressure hydrocephalus ' , Journal of the Neurological Sciences , vol. 368 , pp. 11-18 . https://doi.org/10.1016/j.jns.2016.06.052

Title: Familial idiopathic normal pressure hydrocephalus
Author: Huovinen, Joel; Kastinen, Sami; Komulainen, Simo; Oinas, Minna; Avellan, Cecilia; Frantzen, Janek; Rinne, Jaakko; Ronkainen, Antti; Kauppinen, Mikko; Lonnrot, Kimmo; Perola, Markus; Pyykko, Okka T.; Koivisto, Anne M.; Remes, Anne M.; Soininen, Hilkka; Hiltunen, Mikko; Helisalmi, Seppo; Kurki, Mitja; Jaaskelainen, Juha E.; Leinonen, Ville
Contributor organization: Neurokirurgian yksikkö
Department of Neurosciences
Clinicum
Institute for Molecular Medicine Finland
Quantitative Genetics
Date: 2016-09-15
Language: eng
Number of pages: 8
Belongs to series: Journal of the Neurological Sciences
ISSN: 0022-510X
DOI: https://doi.org/10.1016/j.jns.2016.06.052
URI: http://hdl.handle.net/10138/224569
Abstract: Idiopathic normal pressure hydrocephalus (iNPH) is a late-onset surgically alleviated, progressive disease. We characterize a potential familial subgroup of iNPH in a nation-wide Finnish cohort of 375 shunt-operated iNPH-patients. The patients were questionnaired and phone-interviewed, whether they have relatives with either diagnosed iNPH or disease-related symptomatology. Then pedigrees of all families with more than one iNPH-case were drawn. Eighteen patients (4.8%) from 12 separate pedigrees had at least one shunt-operated relative whereas 42 patients (11%) had relatives with two or more triad symptoms. According to multivariate logistic regression analysis, familial iNPH-patients had up to 3-fold risk of clinical dementia compared to sporadic iNPH patients. This risk was independent from diagnosed Alzheimer's disease and APOE epsilon 4 genotype. This study describes a familial entity of iNPH offering a novel approach to discover the potential genetic characteristics of iNPH. Discovered pedigrees offer an intriguing opportunity to conduct longitudinal studies targeting potential preclinical signs of iNPH. (C) 2016 Elsevier B.V. All rights reserved.
Subject: Normal pressure hydrocephalus
Idiopathic
Alzheimer's disease
APOE
Pedigree
Genetics
Familial aggregation
Heritability
Complex traits
CORTICAL BRAIN BIOPSY
ALZHEIMERS-DISEASE
POPULATION
PREVALENCE
INDIVIDUALS
DRAINAGE
ETINPH
GENOME
GENE
NPH
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion


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