کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
1912949 1047201 2016 8 صفحه PDF سفارش دهید دانلود کنید
عنوان انگلیسی مقاله
Familial idiopathic normal pressure hydrocephalus
ترجمه فارسی عنوان
هیدروسفالی فشار طبیعی ایدیوپاتیک خانوادگی
کلمات کلیدی
هیدروسفالی فشار طبیعی؛ ایدیوپاتیک؛ بیماری آلزایمر؛ APOE؛ پرورش؛ ژنتیک؛ تجمع خانوادگی؛ توارث؛ صفات پیچیده
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
چکیده انگلیسی


• Familial subgroup of iNPH is introduced and characterized.
• 5% of iNPH-patients had shunt-operated relative(s).
• Risk of dementia may be increased in familial iNPH.

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 368, 15 September 2016, Pages 11–18
نویسندگان
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