Ghetti B, Tagliavini F, Giaccone G, Bugiani O, Frangione B, Farlow M R, Dlouhy S R
Indiana University School of Medicine, Indianapolis.
Mol Neurobiol. 1994 Feb;8(1):41-8. doi: 10.1007/BF02778006.
Patients affected with Gerstmann-Sträussler-Scheinker disease from two families, one from Indiana and one of Swedish origin, have been studied. The patients are clinically characterized by cerebellar ataxia, extrapyramidal signs, and dementia. Accumulation of amyloid deposits and neurofibrillary tangles are the most conspicuous neuropathologic features. In the patients from the Indiana family, the amyloid contains an 11-kDa peptide, an amyloidogenic degradation product of the prion protein. The neurofibrillary tangles are composed of paired helical filaments and immunoreact with antibody to A68, an abnormally phosphorylated form of the microtubule-associated protein tau. In these families, the disease is caused by a point mutation in the PRNP gene. In the Indiana family, the mutation is at codon 198, and in the Swedish family at codon 217.
对来自两个家族的格斯特曼-施特劳斯勒-谢inker病患者进行了研究，其中一个家族来自印第安纳州，另一个家族有瑞典血统。这些患者的临床特征为小脑共济失调、锥体外系体征和痴呆。淀粉样沉积物和神经原纤维缠结的积累是最明显的神经病理学特征。在印第安纳家族的患者中，淀粉样蛋白包含一种11 kDa的肽，它是朊病毒蛋白的一种淀粉样生成降解产物。神经原纤维缠结由双螺旋丝组成，并与针对A68的抗体发生免疫反应，A68是微管相关蛋白tau的一种异常磷酸化形式。在这些家族中，该疾病是由PRNP基因中的一个点突变引起的。在印第安纳家族中，突变位于密码子198，在瑞典家族中位于密码子217。
