Familial idiopathic normal pressure hydrocephalus

J Neurol Sci. 2016 Sep 15:368:11-8. doi: 10.1016/j.jns.2016.06.052. Epub 2016 Jun 25.

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 ε4 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.

Keywords: APOE; Alzheimer's disease; Complex traits; Familial aggregation; Genetics; Heritability; Idiopathic; Normal pressure hydrocephalus; Pedigree.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Apolipoproteins E / genetics
  • Cerebrospinal Fluid Shunts
  • Comorbidity
  • Dementia / cerebrospinal fluid
  • Dementia / epidemiology
  • Dementia / genetics
  • Female
  • Finland / epidemiology
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Hydrocephalus, Normal Pressure / epidemiology*
  • Hydrocephalus, Normal Pressure / genetics
  • Hydrocephalus, Normal Pressure / surgery
  • Logistic Models
  • Male
  • Middle Aged
  • Pedigree
  • Prevalence

Substances

  • Apolipoproteins E