Nochlin D, Sumi S M, Bird T D, Snow A D, Leventhal C M, Beyreuther K, Masters C L
Department of Pathology, University of Washington School of Medicine, Seattle 98195.
Neurology. 1989 Jul;39(7):910-8. doi: 10.1212/wnl.39.7.910.
We present a 22-year follow-up of a large and unusual kindred previously reported as familial Alzheimer's disease (FAD). However, detailed clinical and neuropathologic evaluation of family members and brain autopsy on another affected individual now make the diagnosis of FAD unlikely. Our patient, as well as members of this family, had numerous amyloid plaques and rare neurofibrillary tangles. These plaques were quite atypical for Alzheimer's disease (AD); many were quite large (up to 500 microns in diameter) and contained several amyloid cores, some with neuritic components. The plaques were present throughout the cerebral cortex and striatum, but not in the cerebellum. By electron microscopy, they had radiating star-shaped amyloid cores containing 8- to 10-nm fibrils, and a few dystrophic neurites. They were strongly immunoreactive with antiserum to prion protein but did not react with the antiserum to the amyloid A4 protein of AD. Although the cerebellum was uninvolved, this family appears to represent another clinical and neuropathologic variant of Gerstmann-Sträussler syndrome.
我们对一个曾被报道为家族性阿尔茨海默病（FAD）的大型特殊家族进行了为期22年的随访。然而，对家族成员的详细临床和神经病理学评估以及对另一名患病个体的脑尸检结果表明，FAD的诊断不太可能成立。我们的患者以及该家族的成员都有大量淀粉样斑块和罕见的神经原纤维缠结。这些斑块对于阿尔茨海默病（AD）来说非常不典型；许多斑块相当大（直径达500微米），并含有多个淀粉样核心，有些还带有神经炎性成分。这些斑块遍布大脑皮层和纹状体，但小脑未出现。通过电子显微镜观察，它们有呈放射状星形的淀粉样核心，包含8至10纳米的原纤维，还有一些营养不良性神经突。它们与抗朊蛋白血清呈强免疫反应，但与AD的淀粉样A4蛋白抗血清无反应。尽管小脑未受累，但这个家族似乎代表了格斯特曼-施特劳斯勒综合征的另一种临床和神经病理学变体。
