Journal of the neurological sciences · 2016
Familial idiopathic normal pressure hydrocephalus.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Huovinen Joel, Kastinen Sami, Komulainen Simo, Oinas Minna, Avellan Cecilia, Frantzen Janek, Rinne Jaakko, Ronkainen Antti, Kauppinen Mikko, Lönnrot Kimmo, Perola Markus, Pyykkö Okko T, Koivisto Anne M, Remes Anne M, Soininen Hilkka, Hiltunen Mikko, Helisalmi Seppo, Kurki Mitja, Jääskeläinen Juha E, Leinonen Ville
Аннотация
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.