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Volume 12 Supplement 1

Abstracts from Hydrocephalus 2015

  • Oral presentation
  • Open Access

Familial idiopathic normal pressure hydrocephalus

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Fluids and Barriers of the CNS201512 (Suppl 1) :O43

  • Published:


  • Dementia
  • Neurodegenerative Disease
  • Hydrocephalus
  • Multivariate Logistic Regression Analysis
  • Unknown Etiology


Idiopathic normal pressure hydrocephalus (iNPH) is a late-onset, surgically alleviated, progressive neurodegenerative disease with unknown etiology. There are few studies describing pedigrees with multiple affected relatives. Our aim was to identify and characterize a potential familial subgroup of idiopathic normal pressure hydrocephalus in a nation-wide Finnish cohort


Overall 375 iNPH-patients operated between 1993 and 2014 were questionnaired and phone interviewed, whether they have relatives with either diagnosed iNPH or disease-related symptomatology. Genograms of families with such findings were drawn.


60 patients (16 %) had potential familial iNPH. 18 patients from 12 separate pedigrees had at least one relative shunted due to iNPH. Patients with familial iNPH reported a complete triad of NPH-symptoms (p=0.03) and memory problems (p=0.014) more often than sporadic cases. Both shunted and symptomatic relatives were mainly first-degree.

According to age-adjusted multivariate logistic regression analysis diagnosed dementia (odds ratio [OR] 2.9; 95% confidence interval [CI], 1.5–5.4) and nonarthritic rheumatoid etiologies (OR, 4.4; 95% CI, 1.6–11.7) were more frequent in familial than sporadic patients. Geographical variation in the occurrence of iNPH was observed, the incidence being highest in Eastern Finland. Frequency of APOE epsilon 4 as well as diagnosed Alzheimer's disease (AD) and AD-medication were similar in familial and sporadic iNPH-patients.


This study indicates a familial entity of iNPH offering a novel approach to discover the potential genetic characteristics of iNPH. Furthermore, these pedigrees offer an intriguing opportunity to conduct longitudinal studies focusing on potential preclinical signs of iNPH. Our findings support iNPH as a specific neurodegenerative disease.

Authors’ Affiliations

Department of Neurosurgery, Kuopio University Hospital and Neurosurgery, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland
Department of Neurosurgery, University of Helsinki and Helsinki University Hospital, Finland
Clinical Neurosciences, Department of Neurosurgery, Turku University Hospital, Turku, Finland
Department of Neurosurgery, Tampere University Hospital, Tampere, Finland
Department of Neurosurgery, Oulu University Hospital, Oulu, Finland
South Ostrobothnia Central Hospital, Seinäjoki, Finland
National Institute for Health and Welfare, Finland and University of Helsinki, Helsinki, Finland
Unit of Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland and Department of Neurology, Kuopio University Hospital, Kuopio, Finland
Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland
Analytical and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, USA Stanley Center for Psychiatric Research, USA


© Huovinen et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.