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Familial idiopathic normal pressure hydrocephalus
Joel Huovinen1, Sami Kastinen1, Simo Komulainen1
1Department of Neurosurgery, Kuopio University Hospital, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Journal of the Neurological Sciences
|August 20, 2016
Summary
Familial idiopathic normal pressure hydrocephalus (iNPH) cases were identified in a Finnish cohort. These patients showed an increased risk for dementia, suggesting a genetic component to iNPH.
Area of Science:
- Neurology
- Genetics
- Epidemiology
Background:
- Idiopathic normal pressure hydrocephalus (iNPH) is a progressive neurological disorder affecting older adults.
- While often sporadic, a familial component of iNPH is suspected but not well-characterized.
Purpose of the Study:
- To investigate the prevalence and characteristics of familial iNPH within a nationwide Finnish cohort.
- To explore the association between familial iNPH and clinical dementia risk.
Main Methods:
- A nationwide cohort of 375 shunt-operated iNPH patients in Finland was analyzed.
- Patients were surveyed and interviewed regarding family history of iNPH or related symptoms.
- Pedigrees were constructed for families with multiple iNPH cases.
Main Results:
- Eighteen patients (4.8%) had a shunt-operated relative, and 42 patients (11%) had relatives with iNPH triad symptoms.
- Familial iNPH patients demonstrated a 3-fold increased risk of clinical dementia compared to sporadic cases.
- This dementia risk was independent of Alzheimer's disease diagnosis and APOE ε4 genotype.
Conclusions:
- This study identifies a familial subgroup of iNPH, suggesting potential genetic underpinnings.
- The findings highlight an increased dementia risk in familial iNPH, warranting further genetic investigation.
- Identified pedigrees provide a valuable resource for future longitudinal studies on preclinical iNPH signs.
Keywords:
APOEAlzheimer's diseaseComplex traitsFamilial aggregationGeneticsHeritabilityIdiopathicNormal pressure hydrocephalusPedigreeMore Related Videos
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