van der Weide J, Steijns L S, Teepen J L, Noback W J, Klaverwijden G
Klinisch Chemisch Laboratorium, Psychiatrisch Ziekenhuis Veldwijk, Ermelo.
Tijdschr Gerontol Geriatr. 1996 Apr;27(2):73-7.
At present a reliable and specific diagnostic test of Alzheimer's disease is not available. Thus far, diagnosis is based on clinical criteria despite their occasional inadequacy. Post mortem search for neuropathological hallmarks can establish the diagnosis with certainty. In the present case control study we performed an apoE genotyping for 21 patients, divided into an Alzheimer-positive and an Alzheimer-negative group after neuropathological search. As described in the literature, the apoE-epsilon 4 allele was overrepresented in the Alzheimer-positive group, while in the Alzheimer-negative group the apoE-epsilon 3 allele dominated. The epsilon 4 allele of the apoE gene may be considered as a biological risk factor for the development of Alzheimer's disease. Especially in geriatric patients with cognitive impairment, apoE genotyping seems to be a supplementary tool for risk assessment.
目前，尚无可靠且特异的阿尔茨海默病诊断测试。迄今为止，尽管临床标准偶尔存在不足，但诊断仍基于这些标准。尸检寻找神经病理学特征可明确诊断。在本病例对照研究中，我们对21例患者进行了载脂蛋白E基因分型，经神经病理学检查后分为阿尔茨海默病阳性组和阿尔茨海默病阴性组。如文献所述，载脂蛋白E-ε4等位基因在阿尔茨海默病阳性组中占比过高，而在阿尔茨海默病阴性组中载脂蛋白E-ε3等位基因占主导。载脂蛋白E基因的ε4等位基因可被视为阿尔茨海默病发病的生物学危险因素。特别是在患有认知障碍的老年患者中，载脂蛋白E基因分型似乎是一种风险评估的辅助工具。
