Familial idiopathic normal pressure hydrocephalus
Familial idiopathic normal pressure hydrocephalus
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DOI：
10.1016/j.jns.2016.06.052
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发表时间：
2016-09-15
影响因子：
4.4
通讯作者：
Leinonen, Ville
中科院分区：
文献类型：
--
作者：
Huovinen, Joel;Kastinen, Sami;Leinonen, Ville
特发性正常压力脑积水（iNPH）是一种迟发性手术缓解的进行性疾病。我们在芬兰全国范围内的375例分流术iNPH患者队列中描述了iNPH的潜在家族亚组。对患者进行了电话采访，无论他们是否有亲属被诊断为iNPH或疾病相关的精神病。然后绘制所有有1例以上iNPH病例的家系。来自12个独立家系的18例患者（4.8%）至少有一个分流手术的亲属，而42例患者（11%）的亲属有两个或两个以上的三联征症状。根据多变量logistic回归分析，家族性iNPH患者临床痴呆的风险是散发性iNPH患者的3倍。这种风险与阿尔茨海默病和APOE β 4基因型无关。本研究描述了iNPH的家族实体，为发现iNPH的潜在遗传特征提供了一种新的方法。发现的家系提供了一个有趣的机会，进行纵向研究，针对潜在的临床前迹象的iNPH。(C)© 2016 Elsevier B.V.版权所有。
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 epsilon 4 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. (C) 2016 Elsevier B.V. All rights reserved.