Ghetti B, Tagliavini F, Masters C L, Beyreuther K, Giaccone G, Verga L, Farlow M R, Conneally P M, Dlouhy S R, Azzarelli B
Department of Pathology (Division of Neuropathology), Indiana University School of Medicine, Indianapolis 46202-5120.
Neurology. 1989 Nov;39(11):1453-61. doi: 10.1212/wnl.39.11.1453.
Azzarelli et al reported an Indiana kindred affected by a hereditary disorder, characterized clinically by ataxia, parkinsonism, and dementia. Recently, we studied neuropathologically the 3rd and 4th cases that came to autopsy among the patients of this family. As in 2 patients examined previously, amyloid plaques were widespread throughout the cerebrum and the cerebellum, whereas neurofibrillary tangles were numerous in the cerebral cortex, the hippocampus, and the substantia innominata. Amyloid plaques were not recognized by polyclonal antibodies against the Alzheimer's disease amyloid A4 protein, but did contain epitopes recognized by antibodies against a prion protein. Spongiform changes were occasionally observed and were mild. Our findings indicate that this familial disorder is a form of or is related to Gerstmann-Sträussler-Scheinker disease. The consistent presence of numerous neurofibrillary tangles may be important in differentiating a distinct subgroup of patients with familial Gerstmann-Sträussler-Scheinker disease, and indicates that a disturbance of the cytoskeleton might be part of the neuronal pathology of Gerstmann-Sträussler-Scheinker disease.
阿扎雷利等人报告了一个受遗传性疾病影响的印第安纳家族，其临床特征为共济失调、帕金森综合征和痴呆。最近，我们对该家族患者中进行尸检的第3例和第4例进行了神经病理学研究。如同之前检查的2例患者一样，淀粉样斑块广泛分布于大脑和小脑，而神经原纤维缠结在大脑皮质、海马和无名质中大量存在。淀粉样斑块不能被针对阿尔茨海默病淀粉样A4蛋白的多克隆抗体识别，但确实含有被针对朊病毒蛋白的抗体识别的表位。偶尔观察到海绵状改变，且程度较轻。我们的研究结果表明，这种家族性疾病是格斯特曼-施特劳斯勒-申克病的一种形式或与之相关。大量神经原纤维缠结的持续存在可能对区分家族性格斯特曼-施特劳斯勒-申克病患者的一个独特亚组很重要，并表明细胞骨架紊乱可能是格斯特曼-施特劳斯勒-申克病神经元病理学的一部分。
