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Volume 12 Supplement 1

Abstracts from Hydrocephalus 2015

Familial idiopathic normal pressure hydrocephalus

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Introduction

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

Methods

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.

Results

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.

Conclusions

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.

Author information

Correspondence to Joel Huovinen.

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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 (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Huovinen, J., Kastinen, S., Komulainen, S. et al. Familial idiopathic normal pressure hydrocephalus. Fluids Barriers CNS 12, O43 (2015) doi:10.1186/2045-8118-12-S1-O43

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Keywords

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