Early‐onset Alzheimer's disease in 2 large Belgian families
Early‐onset Alzheimer's disease in 2 large Belgian families
复制标题
比利时两个大家庭患有早发性阿尔茨海默病
作者：
J.;J. Gheuens;M. Bruyland;P. Cras;Antoon Vandenberghe;Colin L. Masters;K. Beyreuther;R. Dom;C. Ceuterick;U. Lübke;H. V. Heuverswijn;G. D. Winter;C. Broeckhoven
家族性阿尔茨海默病（FAD）是一种显性遗传性疾病，可能会出现早期发病，肌阵挛经常发生在疾病的过程中。我们报告的临床和神经病理学数据与FAD的2个大的比利时家庭，我们获得了17例尸检的中枢神经系统。A家系11例尸检均具有典型的阿尔茨海默病神经病理学特征，分子层可见少量小脑斑块。在家族B中，除了6例尸检中AD的典型特征外，在小脑皮质层中存在大量淀粉样斑块。在这两个家庭中，我们免疫染色淀粉样蛋白沉积的A4蛋白，他们是阴性的朊病毒相关蛋白免疫反应。
Familial Alzheimer's disease (FAD) is a dominantly inherited condition that may present with an early onset, and myoclonus occurs frequently in the course of the disease. We report clinical and neuropathologic data on 2 large Belgian families with FAD in which we obtained 17 autopsies of the CNS. In family A, each of 11 autopsies had the typical neuropathologic features of Alzheimer's disease (AD), and there were a few cerebellar plaques in the molecular layer. In family B, in addition to the typical characteristics of AD in 6 autopsies, there were numerous amyloid plaques in the cortical cerebellar layers. In both families, we immunostained the amyloid deposits for the A4 protein, and they were negative for prion-associated protein immunoreactivity.
影响因子：
56.9
作者：
STGEORGEHYSLOP, PH;TANZI, RE;GUSELLA, JF
通讯作者：
GUSELLA, JF